{ "id": 4370, "label": "syndromic disease", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0002254", "properties": { "xrefs": [ "DOID:225", "MEDGEN:11688", "MESH:D013577", "NCIT:C28193", "OGMS:0000086", "UMLS:C0039082" ], "synonyms": [ "cluster, symptom", "clusters, symptom", "symptom cluster", "symptom clusters", "syndrome", "syndrome associated with disease or disorder", "syndromes", "syndromic disease", "syndromic disease or disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." }, "isLeaf": false, "isRoot": false, "child_count": 1182, "parents": [ { "id": 29379, "label": "disease by body system or component", "isLeaf": false, "isRoot": false, "parents": [ 24492 ], "type_id": 0, "properties": { "definition": "A grouping class for human diseases classified by the body system or anatomical component primarily affected." }, "child_count": 19, "reference_id": "MONDO:7770006" } ], "children": [ { "id": 2759, "label": "Neu-Laxova syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4198, 4370, 16080, 16087, 16198, 18528 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000102", "ICD9:759.89", "MEDGEN:78537", "MESH:C536405", "OMIMPS:256520", "Orphanet:2671", "SCTID:77817004", "UMLS:C0265218", "icd11.foundation:893358230" ], "synonyms": [ "NLS", "Neu Laxova syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." }, "child_count": 18, "reference_id": "MONDO:0000179" }, { "id": 2960, "label": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16735, 17600 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050881", "GARD:0010899", "MEDGEN:322251", "OMIMPS:167320", "Orphanet:52430", "SCTID:703544004", "UMLS:C1833662", "icd11.foundation:1947548457" ], "synonyms": [ "IBMPFD", "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia", "inclusion body myopathy/Paget disease/frontotemporal dementia", "limb-girdle muscular dystrophy with Paget disease of bone", "pagetoid amyotrophic lateral sclerosis", "pagetoid neuroskeletal syndrome", "inclusion body myopathy with early-onset Paget disease and frontotemporal dementia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure." }, "child_count": 12, "reference_id": "MONDO:0000507" }, { "id": 2961, "label": "syndromic intellectual disability", "isLeaf": false, "isRoot": false, "parents": [ 3324, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050888", "MEDGEN:1842178", "UMLS:C5680525" ], "synonyms": [ "syndrome associated with intellectual disability", "syndromic intellectual disability" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A intellectual disability that is part of a larger syndrome." }, "child_count": 34, "reference_id": "MONDO:0000508" }, { "id": 3144, "label": "abdominal obesity-metabolic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5777, 18954 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060611", "ICD10CM:E88.81", "MEDGEN:419670", "MESH:C535554", "NCIT:C84442", "OMIMPS:605552", "Orphanet:411969", "UMLS:C2930930", "icd11.foundation:1824742930" ], "synonyms": [ "metabolic syndrome", "metabolic syndrome X" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 15, "reference_id": "MONDO:0000816" }, { "id": 3156, "label": "fibrogenesis imperfecta ossium", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080040" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures." }, "child_count": 0, "reference_id": "MONDO:0000849" }, { "id": 3335, "label": "Fanconi renotubular syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 8001, 20667 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1062", "GARD:0009120", "MEDGEN:4653", "MESH:D005198", "NANDO:2100027", "NANDO:2200187", "NCIT:C3034", "SCTID:236466005", "SCTID:40488004", "UMLS:C0015624", "icd11.foundation:788002727" ], "synonyms": [ "De toni-debre-Fanconi syndrome", "Fanconi syndrome", "Fanconi's syndrome", "Fanconi-de toni syndrome", "Lignac-Fanconi syndrome", "adult Fanconi syndrome", "congenital Fanconi syndrome", "infantile nephropathic cystinosis", "toni-debre-Fanconi syndrome" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients." }, "child_count": 12, "reference_id": "MONDO:0001083" }, { "id": 3561, "label": "palindromic rheumatism", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5301, 7203 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1166", "ICD10CM:M12.3", "ICD9:719.3", "ICD9:719.30", "ICD9:719.31", "ICD9:719.32", "ICD9:719.33", "ICD9:719.36", "ICD9:719.38", "MEDGEN:39080", "MESH:C538103", "SCTID:50442003", "UMLS:C0085574", "icd11.foundation:494875651" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms." }, "child_count": 0, "reference_id": "MONDO:0001332" }, { "id": 3604, "label": "hepatorenal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11823", "ICD10CM:K76.7", "ICD9:572.4", "MEDGEN:9224", "MESH:D006530", "NCIT:C113400", "SCTID:51292008", "UMLS:C0019212", "icd11.foundation:1015890899" ], "synonyms": [ "hepato-renal syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant." }, "child_count": 0, "reference_id": "MONDO:0001382" }, { "id": 3763, "label": "Potter sequence", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7487 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12594", "ICD10CM:Q60.6", "MEDGEN:472617", "NANDO:2200157", "NCIT:C40435", "SCTID:41962002", "UMLS:C0178426" ], "synonyms": [ "Potter syndrome", "Potter's sequence", "Potter's syndrome", "oligohydramnios sequence" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure." }, "child_count": 0, "reference_id": "MONDO:0001558" }, { "id": 3827, "label": "vertebral artery insufficiency", "isLeaf": true, "isRoot": false, "parents": [ 2933, 4370, 6964, 20084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13095", "ICD9:435.1", "MEDGEN:22638", "NCIT:C35123", "SCTID:34781003", "UMLS:C0042560", "icd11.foundation:1541569386" ], "synonyms": [ "vertebral artery syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction." }, "child_count": 0, "reference_id": "MONDO:0001631" }, { "id": 4004, "label": "sick sinus syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2930, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13884", "ICD10CM:I49.5", "MEDGEN:20749", "MESH:D012804", "NANDO:2100043", "NANDO:2200212", "NCIT:C62244", "SCTID:36083008", "UMLS:C0037052", "icd11.foundation:1682594333" ], "synonyms": [ "SSS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction." }, "child_count": 2, "reference_id": "MONDO:0001823" }, { "id": 4036, "label": "Tietze syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 8264 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14021", "ICD10CM:M94.0", "ICD9:733.6", "MEDGEN:52753", "MESH:D013991", "NCIT:C168333", "SCTID:30128009", "UMLS:C0040213" ], "synonyms": [ "Costochondritis", "Tietze syndrome", "Tietze's disease", "Tietze's syndrome", "costochondral joint syndromic disease", "syndromic disease of costochondral joint", "Chondropathia tuberosa" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease." }, "child_count": 0, "reference_id": "MONDO:0001858" }, { "id": 4056, "label": "toxic shock syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2838, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14115", "GARD:0009560", "ICD10CM:A48.3", "ICD9:040.82", "MEDGEN:109414", "MESH:D012772", "NCIT:C35498", "NORD:1782", "Orphanet:36234", "SCTID:18504008", "UMLS:C0600327", "icd11.foundation:114886962" ], "synonyms": [ "TSS", "TSS, toxic shock syndrome", "bacterial TSS", "bacterial toxic-shock syndrome", "shock syndrome (TSS), toxic", "syndrome (TSS), toxic shock", "toxic shock syndrome", "toxic shock syndrome, (TSS)", "staphylococcal toxic shock syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria." }, "child_count": 4, "reference_id": "MONDO:0001881" }, { "id": 4123, "label": "capillary leak syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3777, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14400", "EFO:1001284", "GARD:0001084", "ICD9:448.9", "MEDGEN:137987", "MESH:D019559", "MedDRA:10007196", "NCIT:C62578", "Orphanet:188", "SCTID:87730004", "UMLS:C0343084" ], "synonyms": [ "AVLS", "CLS", "Clarkson disease", "SCLS", "Systemic Capillary Leak Syndrome", "acute vascular leak syndrome", "capillary hyperpermeability syndrome", "capillary leak syndrome", "idiopathic capillary leak syndrome", "systemic capillary leak syndrome", "capillary leak syndrome with monoclonal gammopathy", "periodic systemic capillary leak syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure." }, "child_count": 0, "reference_id": "MONDO:0001956" }, { "id": 4140, "label": "dumping syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6364 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14495", "EFO:1001307", "MEDGEN:8501", "MESH:D004377", "NCIT:C2994", "UMLS:C0013288", "icd11.foundation:237191235" ], "synonyms": [ "jejunal syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss." }, "child_count": 0, "reference_id": "MONDO:0001979" }, { "id": 4165, "label": "FG syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14711", "EFO:0009297", "ICD9:759.89", "MEDGEN:113106", "OMIMPS:305450", "Orphanet:323", "SCTID:49984004", "UMLS:C0220769", "icd11.foundation:156523187" ], "synonyms": [ "Keller syndrome", "FGS1", "Opitz-Kaveggia syndrome", "FGS", "intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum", "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential." }, "child_count": 12, "reference_id": "MONDO:0002010" }, { "id": 4366, "label": "basilar artery insufficiency", "isLeaf": true, "isRoot": false, "parents": [ 2933, 4370, 20084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:223", "ICD9:435.0", "MEDGEN:14039", "NCIT:C34413", "SCTID:64009001", "UMLS:C0004812", "icd11.foundation:440367679" ], "synonyms": [ "basilar artery syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function." }, "child_count": 0, "reference_id": "MONDO:0002250" }, { "id": 4527, "label": "long QT syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2843", "GARD:0027044", "ICD10CM:I45.81", "ICD9:426.82", "MEDGEN:44193", "MESH:D008133", "NANDO:2100053", "NANDO:2200228", "NCIT:C34786", "UMLS:C0023976" ], "synonyms": [ "long QT syndrome", "ventricular arrhythmia associated with long QT syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome." }, "child_count": 1, "reference_id": "MONDO:0002442" }, { "id": 4538, "label": "Treacher-Collins syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 16089, 16319 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2908", "GARD:0009124", "MEDGEN:66078", "MedDRA:10051456", "NCIT:C75018", "NORD:1785", "OMIMPS:154500", "Orphanet:861", "SCTID:62767009", "UMLS:C0242387", "icd11.foundation:969026676" ], "synonyms": [ "Franceschetti-Klein syndrome", "Treacher Collins Syndrome", "Treacher Collins syndrome", "Treacher-Collins syndrome", "mandibulofacial dysostosis without limb anomalies", "MFD1", "TCOF", "TCS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." }, "child_count": 16, "reference_id": "MONDO:0002457" }, { "id": 4733, "label": "superior mesenteric artery syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4734, 7210 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3557", "GARD:0007712", "MEDGEN:21404", "MESH:D013478", "NCIT:C85175", "NORD:1955", "Orphanet:622099", "SCTID:197006009", "UMLS:C0038828" ], "synonyms": [ "superior mesenteric artery syndrome", "superior mesenteric artery syndromic disease", "syndromic disease of superior mesenteric artery", "Arteriomesenteric duodenal compression syndrome", "Cast syndrome", "Wilkie syndrome", "vascular compression of the duodenum" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment." }, "child_count": 0, "reference_id": "MONDO:0002687" }, { "id": 5126, "label": "disappearing bone disease", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4837", "ICD9:733.09", "MEDGEN:45247", "NANDO:1200878", "NANDO:1200880", "SCTID:240161003", "UMLS:C0029436" ], "synonyms": [ "Gorham's disease", "massive osteolysis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal." }, "child_count": 2, "reference_id": "MONDO:0003157" }, { "id": 5634, "label": "Brown-Sequard syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5637 ], "type_id": 0, "properties": { "xrefs": [ "DOID:606", "EFO:1001279", "GARD:0027646", "ICD10CM:G83.81", "MEDGEN:69225", "MESH:D018437", "NCIT:C84601", "SCTID:27982003", "UMLS:C0242644" ], "synonyms": [ "Hemicord syndrome", "Hemiparaplegic syndrome", "Hemispinal cord syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause." }, "child_count": 0, "reference_id": "MONDO:0003754" }, { "id": 5819, "label": "Froelich syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4280, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6676", "ICD9:253.8", "MEDGEN:4795", "NCIT:C34625", "SCTID:62999006", "UMLS:C0016724" ], "synonyms": [ "Babinski-Froelich syndrome", "Froehlich's syndrome", "Froelich's syndrome", "Frohlich syndrome", "Frohlich's syndrome", "Frolich's syndrome", "Fröhlich syndrome", "Launois-Cleret syndrome", "dystrophia Adiposogenitalis", "hypothalamic infantilism-obesity", "sexual infantilism", "Adiposodysgenesis", "Froelich's adiposity", "adiposogenital dystrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today." }, "child_count": 0, "reference_id": "MONDO:0003962" }, { "id": 5820, "label": "diffuse infiltrative lymphocytosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6677", "MEDGEN:232428", "NCIT:C35699", "SCTID:449784008", "UMLS:C1333292" ], "synonyms": [ "diffuse infiltra. lymph. sydrome", "diffuse infiltra. lymph. syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs." }, "child_count": 0, "reference_id": "MONDO:0003963" }, { "id": 5822, "label": "Capgras syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6173 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6680", "MEDGEN:2811", "MESH:D002194", "NCIT:C34446", "UMLS:C0006895" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all." }, "child_count": 0, "reference_id": "MONDO:0003965" }, { "id": 5853, "label": "compartment syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:682", "GARD:0006141", "ICD9:958.8", "ICD9:958.90", "MEDGEN:40417", "MESH:D003161", "NCIT:C118422", "SCTID:111245009", "UMLS:C0009492" ], "synonyms": [ "compartment syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space." }, "child_count": 2, "reference_id": "MONDO:0004001" }, { "id": 6507, "label": "central sleep apnea syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6990 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9220", "MEDGEN:854402", "MESH:D020182", "NCIT:C27169", "SCTID:27405005", "UMLS:C3887547" ], "synonyms": [ "central sleep apnea syndrome", "central sleep apnea, primary", "primary central sleep apnea", "secondary central sleep apnea", "Apneas, central", "Apneas, central sleep", "Breathings, central sleep-disordered", "alveolar hypoventilation, central", "alveolar hypoventilations, central", "apnea, central", "apnea, central sleep", "apnea, sleep, central", "breathing, central sleep-disordered", "central Apneas", "central alveolar hypoventilation", "central alveolar hypoventilation syndrome", "central apnea", "central sleep Apneas", "central sleep apnea", "central sleep apnea, secondary", "central sleep disordered breathing", "central sleep-disordered Breathings", "central sleep-disordered breathing", "hypoventilation, central alveolar", "hypoventilations, central alveolar", "ondine syndrome", "sleep Apneas, central", "sleep apnea, lethal central", "sleep disordered breathing, central", "sleep-disordered Breathings, central", "sleep-disordered breathing, central" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health." }, "child_count": 10, "reference_id": "MONDO:0004731" }, { "id": 6783, "label": "irritable bowel syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9778", "EFO:0000555", "ICD10CM:K58", "ICD10WHO:K58", "ICD9:564.1", "MEDGEN:5897", "MESH:D043183", "NCIT:C82343", "SCTID:10743008", "UMLS:C0022104", "icd11.foundation:1158238623" ], "synonyms": [ "IBS", "irritable bowel syndrome", "irritable colon", "mucus colitis", "spastic colon" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterized by abdominal pain or discomfort and disordered bowel habit (diarrhea, constipation, or fluctuation between the two)." }, "child_count": 0, "reference_id": "MONDO:0005052" }, { "id": 7058, "label": "nephrotic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4437 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1184", "EFO:0004255", "GARD:0027721", "ICD10CM:N04", "ICD10WHO:N04", "ICD9:581", "ICD9:581.9", "MEDGEN:10308", "MESH:D009404", "NANDO:2100009", "NCIT:C34845", "SCTID:52254009", "UMLS:C0027726", "icd11.foundation:1184209951" ], "synonyms": [ "nephrotic syndrome", "nephrotic syndromes", "syndrome, nephrotic", "syndromes, nephrotic", "nephrosis" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction." }, "child_count": 8, "reference_id": "MONDO:0005377" }, { "id": 7080, "label": "myalgic encephalomeyelitis/chronic fatigue syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5798, 20334, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8544", "EFO:0004540", "ICD9:780.71", "ICD9:780.79", "MEDGEN:5130", "MESH:D015673", "NCIT:C3037", "Orphanet:1983", "SCTID:51771007", "UMLS:C0015674" ], "synonyms": [ "CFS", "chronic fatigue immune dysfunction syndrome", "chronic fatigue syndrome", "myalgic encephalitis", "myalgic encephalomyelitis", "systemic exertion intolerance disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities." }, "child_count": 0, "reference_id": "MONDO:0005404" }, { "id": 7194, "label": "acute coronary syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20092, 21553 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0005672", "MEDGEN:215295", "MESH:D054058", "NCIT:C53652", "SCTID:394659003", "UMLS:C0948089" ], "synonyms": [ "acute coronary syndrome", "acute coronary syndromes", "coronary syndrome, acute", "coronary syndromes, acute", "syndrome, acute coronary", "syndromes, acute coronary" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." }, "child_count": 0, "reference_id": "MONDO:0005542" }, { "id": 7198, "label": "fibromyalgia", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21350, 24405 ], "type_id": 0, "properties": { "xrefs": [ "DOID:631", "EFO:0005687", "ICD10CM:M79.7", "ICD9:729.1", "MEDGEN:42018", "MESH:D005356", "NCIT:C87497", "Orphanet:41842", "SCTID:203082005", "UMLS:C0016053" ], "synonyms": [ "fibromyalgia", "fibromyalgia syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." }, "child_count": 0, "reference_id": "MONDO:0005546" }, { "id": 7215, "label": "substance withdrawal syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4573 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060001", "EFO:0005800", "ICD9:292.0", "MEDGEN:20990", "MESH:D013375", "NCIT:C35046", "SCTID:363101005", "UMLS:C0038587" ], "synonyms": [ "drug withdrawal", "drug withdrawal syndrome", "substance withdrawal", "substance withdrawal disorder", "substance withdrawal syndrome", "withdrawal syndrome", "withdrawal disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of a substance (including alcohol, prescribed medications and recreational drugs). Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." }, "child_count": 6, "reference_id": "MONDO:0005567" }, { "id": 7271, "label": "acute chest syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6971, 20092 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1584", "EFO:0007129", "ICD9:517.3", "MEDGEN:196643", "MESH:D056586", "NCIT:C138179", "SCTID:372146004", "UMLS:C0742343" ], "synonyms": [ "ACS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia." }, "child_count": 0, "reference_id": "MONDO:0005632" }, { "id": 7298, "label": "Barre-Lieou syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6692", "ICD10CM:M53.0", "ICD9:723.2", "MEDGEN:87688", "MESH:D055010", "NCIT:C34411", "SCTID:17300000", "UMLS:C0376378" ], "synonyms": [ "Cervicocranial syndrome", "posterior cervical sympathetic syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo." }, "child_count": 0, "reference_id": "MONDO:0005663" }, { "id": 7324, "label": "cauda equina syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5512 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11577", "EFO:0007196", "ICD10CM:G83.4", "ICD9:344.6", "MEDGEN:98229", "MESH:D000077684", "NCIT:C35436", "SCTID:192970008", "UMLS:C0392548", "icd11.foundation:1490265028" ], "synonyms": [ "cauda equina syndromic disease", "syndromic disease of cauda equina" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery." }, "child_count": 2, "reference_id": "MONDO:0005693" }, { "id": 7432, "label": "Kluver-Bucy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3406, 4370, 19721 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2510", "EFO:0007335", "GARD:0006840", "MEDGEN:124361", "MESH:D020232", "MedDRA:10066431", "NCIT:C84802", "NORD:1338", "Orphanet:157823", "SCTID:10651001", "UMLS:C0270707" ], "synonyms": [ "KLüver-Bucy syndrome", "KLuever-Bucy syndrome", "Kluver Bucy syndrome", "bilateral temporal lobe disorder", "memory loss, extreme sexual behavior, placidity, and visual distractibility", "post-encephalitic Kluver Bucy syndrome (type)", "post-traumatic Kluver Bucy syndrome (type)", "syndrome, Kluver-Bucy", "temporal lobectomy behavior syndrome", "temporal lobectomy behaviour syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms include diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications." }, "child_count": 0, "reference_id": "MONDO:0005817" }, { "id": 7462, "label": "Miller Fisher syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2996, 4370, 4515 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12889", "EFO:0007371", "GARD:0003668", "MEDGEN:95994", "MESH:D019846", "MedDRA:10049567", "NCIT:C116958", "Orphanet:98919", "SCTID:1767005", "UMLS:C0393799", "icd11.foundation:134795253" ], "synonyms": [ "Fisher syndrome", "Guillain Barre syndrome, Miller Fisher variant", "Guillain-Barre syndrome, Miller Fisher variant", "Miller Fisher variant of Guillain Barre syndrome", "Miller-Fisher syndrome", "cranial variant of GBS", "cranial variant of Guillain-Barre syndrome", "cranial variant of Guillain-Barré syndrome", "ophthalmoplegia, ataxia and areflexia syndrome", "syndrome, Fisher", "syndrome, Miller Fisher", "syndrome, Miller-Fisher" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia." }, "child_count": 0, "reference_id": "MONDO:0005851" }, { "id": 7509, "label": "persian gulf syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4491", "EFO:0007430", "ICD9:300.89", "MEDGEN:84396", "MESH:D018923", "SCTID:95877004", "UMLS:C0282550" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)" }, "child_count": 0, "reference_id": "MONDO:0005907" }, { "id": 7538, "label": "Reye syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7203, 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14525", "EFO:0007467", "GARD:0007570", "ICD10CM:G93.7", "ICD9:331.81", "MEDGEN:19772", "MESH:D012202", "MedDRA:10039012", "NCIT:C34983", "Orphanet:3096", "SCTID:74351001", "UMLS:C0035400", "icd11.foundation:649014905" ], "synonyms": [ "Reye's syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use." }, "child_count": 0, "reference_id": "MONDO:0005942" }, { "id": 7571, "label": "thoracic outlet syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3103", "EFO:0007507", "MEDGEN:21158", "MESH:D013901", "MedDRA:10048627", "NCIT:C85188", "NORD:1766", "Orphanet:97330", "SCTID:128210009", "UMLS:C0039984", "icd11.foundation:909280105" ], "synonyms": [ "TOS", "thoracic outlet compression syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip." }, "child_count": 6, "reference_id": "MONDO:0005979" }, { "id": 7606, "label": "Waterhouse-Friderichsen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19542 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9931", "EFO:0007544", "GARD:0009449", "ICD10CM:A39.1", "ICD9:036.3", "MEDGEN:234675", "MESH:D014884", "MedDRA:10047847", "NCIT:C85225", "Orphanet:100067", "SCTID:36102002", "UMLS:C1403891", "icd11.foundation:2072098125" ], "synonyms": [ "WFS", "meningococcal hemorrhagic adrenalitis", "Waterhouse–Friderichsen syndrome", "fatal pneumococcal Waterhouse-Friderichsen syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency." }, "child_count": 0, "reference_id": "MONDO:0006015" }, { "id": 7607, "label": "Wissler syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7203 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3047", "MEDGEN:53087", "MESH:D014924", "UMLS:C0043195" ], "synonyms": [ "Wissler syndrome", "Wissler's syndrome", "Wissler-Fanconi syndrome (finding)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate." }, "child_count": 0, "reference_id": "MONDO:0006018" }, { "id": 7995, "label": "acute respiratory distress syndrome", "isLeaf": false, "isRoot": false, "parents": [ 3448, 4370 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000637", "ICD10CM:J80", "MEDGEN:1812214", "MedDRA:10001052", "NCIT:C3353", "UMLS:C2887484", "icd11.foundation:1189702844" ], "synonyms": [ "ARDS", "acute respiratory distress syndrome", "shock lung", "ALI", "Stiff lung", "acute lung injury", "increased-permeability pulmonary edema", "increased-permeability pulmonary oedema", "non-cardiogenic pulmonary edema", "non-cardiogenic pulmonary oedema" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." }, "child_count": 4, "reference_id": "MONDO:0006502" }, { "id": 8007, "label": "Achenbach syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6687", "EFO:1000661", "GARD:0027759", "MEDGEN:99176", "NCIT:C35467", "PMID:22915534", "SCTID:238824006", "UMLS:C0473563" ], "synonyms": [ "Achenbach syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days." }, "child_count": 0, "reference_id": "MONDO:0006520" }, { "id": 8059, "label": "miliaria", "isLeaf": false, "isRoot": false, "parents": [ 4370, 8090 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1382", "MEDGEN:44443", "MESH:D008883", "NCIT:C34820", "SCTID:63951004", "UMLS:C0026113", "Wikipedia:Miliaria", "icd11.foundation:204420062" ], "synonyms": [ "heat rash", "prickly heat" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands." }, "child_count": 16, "reference_id": "MONDO:0006580" }, { "id": 8122, "label": "anterior spinal artery syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2933, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6712", "EFO:1000810", "ICD9:433.80", "MEDGEN:65125", "MESH:D020759", "MedDRA:10002703", "SCTID:2972007", "UMLS:C0221069" ], "synonyms": [ "anterior spinal artery syndromic disease", "syndromic disease of anterior spinal artery" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" }, "child_count": 0, "reference_id": "MONDO:0006650" }, { "id": 8154, "label": "burning mouth syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 8301 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4331", "EFO:1000850", "GARD:0005974", "MEDGEN:14254", "MESH:D002054", "MedDRA:10068065", "NCIT:C62545", "Orphanet:353253", "SCTID:399165002", "UMLS:C0006430", "icd11.foundation:618998878" ], "synonyms": [ "BMS", "Orodynia", "Stomatopyrosis", "oral dysesthesia", "stomatodynia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0006858", "name": "mouth disorder" } ], "definition": "A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth." }, "child_count": 2, "reference_id": "MONDO:0006687" }, { "id": 8190, "label": "dry eye syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4032, 4370, 6538 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10140", "DOID:12895", "EFO:1000906", "ICD10CM:H04.12", "ICD9:375.15", "MEDGEN:4411", "MESH:D007638", "MESH:D015352", "MedDRA:10013777", "MedDRA:100233350", "NCIT:C34553", "SCTID:302896008", "SCTID:46152009", "UMLS:C0013238" ], "synonyms": [ "dry eye", "dry eye syndrome", "dry eye(s)", "eye(s), dry", "keratoconjunctivitis sicca", "sicca, keratoconjunctivitis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye." }, "child_count": 3, "reference_id": "MONDO:0006733" }, { "id": 8197, "label": "empty sella syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5314 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3642", "EFO:1000914", "GARD:0027764", "ICD9:253.8", "MEDGEN:41766", "MESH:D004652", "MedDRA:10014567", "NCIT:C84686", "SCTID:237722004", "UMLS:C0014008", "icd11.foundation:49112094" ], "synonyms": [ "empty sella", "empty sella syndrome", "empty sella turcica" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person." }, "child_count": 0, "reference_id": "MONDO:0006740" }, { "id": 8210, "label": "euthyroid sick syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5187 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2856", "EFO:1000931", "ICD10CM:E07.81", "ICD9:790.94", "MEDGEN:41908", "MESH:D005067", "MedDRA:10015549", "NCIT:C113170", "SCTID:237542005", "UMLS:C0015190" ], "synonyms": [ "euthyroid sick syndrome", "sick euthyroid syndrome", "sick-euthyroid syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness." }, "child_count": 0, "reference_id": "MONDO:0006755" }, { "id": 8272, "label": "lateral medullary syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 8153 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3522", "EFO:1001011", "GARD:0027766", "ICD9:437.1", "MEDGEN:53057", "MESH:D014854", "MedDRA:10024033", "NCIT:C84807", "SCTID:78569004", "UMLS:C0043019", "icd11.foundation:1569228344", "icd11.foundation:1606151456" ], "synonyms": [ "Posterior inferior cerebellar artery syndrome", "Wallenberg syndrome", "Wallenberg's syndrome", "Lateral medullary syndrome", "PICA syndrome", "Vertebral artery syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking." }, "child_count": 0, "reference_id": "MONDO:0006827" }, { "id": 8408, "label": "subclavian steal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 12183 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13002", "ICD9:435.2", "MEDGEN:20983", "MESH:D013349", "MedDRA:10042335", "NCIT:C35044", "SCTID:15258001", "UMLS:C0038531", "icd11.foundation:2123391417" ], "synonyms": [ "subclavian artery stenosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention." }, "child_count": 0, "reference_id": "MONDO:0006983" }, { "id": 8417, "label": "tarsal tunnel syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 8420 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12526", "EFO:1001208", "GARD:0007733", "ICD10CM:G57.5", "ICD9:355.5", "MEDGEN:52646", "MESH:D013641", "MedDRA:10043121", "NCIT:C85183", "SCTID:47374004", "UMLS:C0039319", "icd11.foundation:854657246" ], "synonyms": [ "neuropathy of the posterior tibial nerve and its branches", "posterior tibial nerve neuralgia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome." }, "child_count": 0, "reference_id": "MONDO:0006994" }, { "id": 8418, "label": "tethered spinal cord syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4611 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1089", "EFO:1001210", "ICD9:741", "ICD9:756.19", "MEDGEN:36387", "NCIT:C99080", "SCTID:249491000119100", "UMLS:C0080218" ], "synonyms": [ "spinal cord syndrome", "tethered cord" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence." }, "child_count": 0, "reference_id": "MONDO:0006995" }, { "id": 8448, "label": "branchio-oto-renal syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14702", "GARD:0010147", "ICD9:759.89", "MEDGEN:82693", "MESH:D019280", "MedDRA:10071135", "NANDO:1200675", "NCIT:C98983", "OMIMPS:113650", "Orphanet:107", "SCTID:290006", "UMLS:C0265234", "Wikipedia:Branchio-oto-renal_syndrome", "icd11.foundation:504227287" ], "synonyms": [ "Branchio-Oto-renal syndrome", "Melnick-Fraser syndrome", "branchio-oto-renal syndrome", "branchiootorenal syndrome", "Branchio oto renal syndrome", "bor syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)." }, "child_count": 6, "reference_id": "MONDO:0007029" }, { "id": 8451, "label": "prune belly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18571, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060889", "GARD:0007479", "ICD10CM:Q79.4", "ICD9:756.71", "MEDGEN:18718", "MESH:D011535", "MedDRA:10051025", "NANDO:2200185", "NCIT:C85033", "NORD:1623", "OMIM:100100", "Orphanet:2970", "SCTID:5187006", "UMLS:C0033770", "icd11.foundation:1393408621" ], "synonyms": [ "Obrinsky syndrome", "Obrisnksy syndrome", "abdominal muscle deficiency syndrome", "eagle-Barret syndrome", "prune belly syndrome", "syndrome of agenesis of abdominal muscles", "triad syndrome", "PBS", "abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism", "eagle-Barrett syndrome" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes." }, "child_count": 0, "reference_id": "MONDO:0007032" }, { "id": 8455, "label": "Achard syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6686", "GARD:0027772", "MEDGEN:272277", "MESH:C536012", "NCIT:C35809", "OMIM:100700", "UMLS:C1332135" ], "synonyms": [ "Achard syndrome", "arachnodactyly, receding lower jaw and joint laxity of hands/feet" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet." }, "child_count": 0, "reference_id": "MONDO:0007036" }, { "id": 8498, "label": "alopecia-epilepsy-pyorrhea-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000607", "MEDGEN:350833", "MESH:C537057", "OMIM:104130", "Orphanet:1008", "SCTID:720980004", "UMLS:C1863090" ], "synonyms": [ "Shokeir syndrome", "alopecia, epilepsy, pyorrhea, mental subnormality", "alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality", "congenital universal alopecia, epilepsy, mental subnormality and pyorrhea" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007085" }, { "id": 8510, "label": "Finnish type amyloidosis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18261, 18631, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050637", "GARD:0002339", "ICD9:277.39", "MEDGEN:301243", "MESH:C537459", "NANDO:1201063", "OMIM:105120", "Orphanet:85448", "SCTID:419398009", "UMLS:C1622345" ], "synonyms": [ "amyloidosis, MERETOJA type", "familial amyloid polyneuropathy type IV", "familial amyloidosis, Finnish type", "gelsolin amyloidosis", "hereditary amyloidosis, Finnish type", "meretoja syndrome", "AGel amyloidosis", "amyloid cranial neuropathy with lattice corneal dystrophy", "amyloidosis 5", "amyloidosis V", "amyloidosis due to mutant gelsolin", "amyloidosis, Finnish type", "amyloidosis, Meretoja type", "cerebral amyloid angiopathy, Gsn-related", "corneal dystrophy, lattice type 2", "hereditary gelsolin amyloidosis", "lattice corneal dystrophy type II Finnish", "lattice corneal dystrophy, type 2", "meretoja type amyloidosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0007097" }, { "id": 8526, "label": "Angelman syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:4", "DECIPHER:54", "DOID:1932", "GARD:0005810", "ICD10CM:Q93.51", "ICD9:759.89", "MEDGEN:58144", "MESH:C531619", "MESH:D017204", "MedDRA:10049004", "NANDO:1200686", "NANDO:2200960", "NCIT:C75462", "NORD:782", "OMIM:105830", "Orphanet:72", "SCTID:76880004", "UMLS:C0162635", "icd11.foundation:1106558408" ], "synonyms": [ "Angelman syndrome", "Angelman’s syndrome", "Angelman syndrome (Type 1)", "Angelman syndrome (Type 2)", "AS", "Angelman syndrome chromosome region", "happy puppet syndrome (formerly)", "happy puppet syndrome, formerly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." }, "child_count": 8, "reference_id": "MONDO:0007113" }, { "id": 8532, "label": "aniridia-absent patella syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000685", "MEDGEN:400149", "MESH:C566281", "OMIM:106220", "Orphanet:1069", "UMLS:C1862868" ], "synonyms": [ "aniridia absent patella", "aniridia and absent patella", "familial syndrome of aniridia and absence of the patella" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." }, "child_count": 0, "reference_id": "MONDO:0007120" }, { "id": 8535, "label": "ankyloblepharon filiforme adnatum-cleft palate syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000696", "MEDGEN:400148", "MESH:C536373", "OMIM:106250", "Orphanet:1072", "SCTID:400952003", "UMLS:C1862866" ], "synonyms": [ "ankyloblepharon filiforme adnatum", "AFA", "ankyloblepharon filiforme adnatum and cleft palate", "ankyloblepharon filiforme adnatum cleft palate", "ankyloblepharon filiforme congenitum", "congenital filiform fusion of the eyelids with cleft palate and/or cleft lip" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0007123" }, { "id": 8551, "label": "Townes-Brocks syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 16089, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050887", "GARD:0007784", "ICD9:759.89", "MEDGEN:75555", "MESH:C536974", "NCIT:C99085", "NORD:1780", "OMIMPS:107480", "Orphanet:857", "SCTID:24750000", "UMLS:C0265246", "icd11.foundation:66554749" ], "synonyms": [ "TBS", "Townes syndrome", "Townes-Brocks syndrome", "imperforate anus with hand, foot and ear anomalies", "rear syndrome", "renal-ear-anal-radial syndrome", "sensorineural deafness with imperforate anus and hypoplastic thumbs", "TBS1", "Townes-Brocks syndrome 1", "Townes-Brocks-branchiootorenal-like syndrome", "anus, imperforate, with hand, foot and ear anomalies", "anus, imperforate, with hand, foot, and Ear anomalies", "deafness, sensorineural, with imperforate anus and hypoplastic thumbs", "deafness, sensorineural, with imperforate anus and thumb anomalies", "renal-Ear-anal-radial syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." }, "child_count": 8, "reference_id": "MONDO:0007142" }, { "id": 8555, "label": "obstructive sleep apnea syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6990 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050848", "EFO:0003918", "HP:0002870", "ICD10CM:G47.33", "ICD9:327.23", "MEDGEN:101045", "MESH:D020181", "NCIT:C27168", "OMIM:107650", "SCTID:78275009", "UMLS:C0520679" ], "synonyms": [ "obstructive sleep apnea", "obstructive sleep apnea syndrome", "Apneas, obstructive sleep", "OSAHS", "Osa", "apnea, obstructive sleep", "obstructive sleep Apneas", "sleep Apneas, obstructive", "sleep apnea hypopnea syndrome", "sleep apnea syndrome, obstructive", "sleep apnea/hypopnea syndrome", "syndrome, obstructive sleep apnea", "syndrome, sleep apnea, obstructive", "syndrome, upper airway resistance, sleep apnea", "upper airway resistance sleep apnea syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Cessation of air flow during sleep due to upper airway obstruction." }, "child_count": 2, "reference_id": "MONDO:0007147" }, { "id": 8581, "label": "Lown-Ganong-Levine syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13087", "GARD:0016550", "ICD9:426.81", "MEDGEN:354734", "MESH:D008151", "MedDRA:10024984", "OMIM:108950", "Orphanet:844", "SCTID:55475008", "UMLS:C1862387", "icd11.foundation:414532162" ], "synonyms": [ "LGL syndrome", "Lown-Ganong-Levine syndrome", "atrial tachyarrhythmia with short PR interval" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." }, "child_count": 0, "reference_id": "MONDO:0007174" }, { "id": 8597, "label": "Behcet disease", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19142 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13241", "EFO:0003780", "GARD:0000848", "ICD9:136.1", "MEDGEN:2568", "MESH:D001528", "MedDRA:10004213", "NANDO:1200284", "NANDO:2200422", "NCIT:C34416", "OMIM:109650", "Orphanet:117", "SCTID:310701003", "UMLS:C0004943", "icd11.foundation:1668927157" ], "synonyms": [ "Bechet syndrome", "Behcet disease", "Behcet syndrome", "Behcet's syndrome", "Behçet disease", "Behçet syndrome", "Behçet's syndrome", "Behçet-Adamantiades syndrome", "Morbus Behçet's syndrome", "silk road disease", "BD", "Behcet's disease", "Behçet's disease", "Behçet’s disease" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." }, "child_count": 0, "reference_id": "MONDO:0007191" }, { "id": 8616, "label": "brachydactyly-arterial hypertension syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18362, 18956, 20260 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111247", "GARD:0000967", "MEDGEN:349445", "MESH:C537095", "OMIM:112410", "Orphanet:1276", "SCTID:720568003", "UMLS:C1862170" ], "synonyms": [ "Bilginturan brachydactyly", "Bilginturan syndrome", "brachydactyly type E, with short stature and hypertension", "HTNB", "brachydactyly type E with short stature and hypertension", "brachydactyly with hypertension", "brachydactyly, type E, with short stature and hypertension", "hypertension and brachydactyly syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." }, "child_count": 0, "reference_id": "MONDO:0007211" }, { "id": 8621, "label": "brachydactyly type A2", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20260 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110965", "GARD:0000979", "MEDGEN:318690", "MESH:C537089", "OMIM:112600", "Orphanet:93396", "SCTID:720569006", "UMLS:C1832702", "icd11.foundation:594491464" ], "synonyms": [ "BDA2", "Mohr-Wriedt type brachydactyly", "brachydactyly, Mohr-Wriedt type", "Brachymesophalangy 2", "Brachymesophalangy type 2", "brachydactyly, type A2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." }, "child_count": 0, "reference_id": "MONDO:0007216" }, { "id": 8630, "label": "fibular aplasia-ectrodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002331", "MEDGEN:396290", "MESH:C537930", "OMIM:113310", "Orphanet:1118", "UMLS:C1862100" ], "synonyms": [ "brachydactyly-ectrodactyly with fibular aplasia or hypoplasia", "fibular aplasia ectrodactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females." }, "child_count": 0, "reference_id": "MONDO:0007225" }, { "id": 8631, "label": "brachydactyly-nystagmus-cerebellar ataxia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000971", "ICD9:759.89", "MEDGEN:350589", "MESH:C566192", "OMIM:113400", "Orphanet:1246", "SCTID:205828009", "UMLS:C1862099" ], "synonyms": [ "Biemond syndrome", "Biemond syndrome type 1", "brachydactyly - nystagmus - cerebellar ataxia", "brachydactyly, nystagmus and cerebellar ataxia", "brachydactyly-NYSTAGMUS-cerebellar ataxia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients." }, "child_count": 0, "reference_id": "MONDO:0007226" }, { "id": 8632, "label": "Sillence syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004869", "MEDGEN:354659", "MESH:C537338", "OMIM:113450", "Orphanet:3168", "SCTID:732956000", "UMLS:C1862092" ], "synonyms": [ "brachydactyly-symphalangism syndrome", "brachydactyly-distal symphalangism syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic." }, "child_count": 0, "reference_id": "MONDO:0007227" }, { "id": 8635, "label": "Brachymorphism-onychodysplasia-dysphalangism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6893, 16088, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000918", "MEDGEN:350585", "MESH:C536242", "OMIM:113477", "Orphanet:1292", "SCTID:720573009", "UMLS:C1862082" ], "synonyms": [ "Brachymorphism-onychodysplasia-dysphalangism syndrome", "Senior syndrome", "bod syndrome", "Brachymorphism onychodysplasia dysphalangism syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants." }, "child_count": 0, "reference_id": "MONDO:0007230" }, { "id": 8636, "label": "brachytelephalangy-dysmorphism-Kallmann syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 16526, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016562", "MEDGEN:444052", "MESH:C537101", "OMIM:113480", "Orphanet:1295", "UMLS:C2931421" ], "synonyms": [ "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." }, "child_count": 0, "reference_id": "MONDO:0007231" }, { "id": 8671, "label": "dilated cardiomyopathy 1A", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24709 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110425", "GARD:0018615", "MEDGEN:1875382", "OMIM:115200", "Orphanet:300751", "SCTID:766883006", "UMLS:C5979868", "icd11.foundation:884022112" ], "synonyms": [ "CDCD1", "LMNA familial isolated dilated cardiomyopathy", "cardiomyopathy dilated with conduction defect type 1", "cardiomyopathy, dilated, type 1A", "dilated cardiomyopathy 1A", "dilated cardiomyopathy type 1A", "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "cardiomyopathy, congestive", "cardiomyopathy, dilated, 1A", "cardiomyopathy, dilated, with conduction defect 1", "cardiomyopathy, familial idiopathic", "cardiomyopathy, idiopathic dilated" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, "child_count": 0, "reference_id": "MONDO:0007269" }, { "id": 8678, "label": "cat-eye syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:42", "GARD:0000026", "MEDGEN:120543", "MESH:C535918", "NCIT:C75477", "NORD:899", "OMIM:115470", "Orphanet:195", "SCTID:26445008", "UMLS:C0265493", "icd11.foundation:1813923633" ], "synonyms": [ "CAT eye syndrome", "CES", "Cat Eye Syndrome", "cat-eye syndrome (Type I)", "Inv dup(22)(q11)", "Schmid-Fraccaro syndrome", "chromosome 22 partial tetrasomy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." }, "child_count": 0, "reference_id": "MONDO:0007276" }, { "id": 8700, "label": "cerebrocostomandibular syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111248", "GARD:0006026", "ICD9:759.89", "MEDGEN:120537", "MESH:C562538", "NORD:914", "OMIM:117650", "Orphanet:1393", "SCTID:51780007", "UMLS:C0265342", "icd11.foundation:1475063064" ], "synonyms": [ "cerebrocostomandibular syndrome", "CCM syndrome", "CCMS", "CEREBROCOSTOMANDIBULAR syndrome", "cerebro-costo-mandibular syndrome", "rib Gap defects with micrognathia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." }, "child_count": 0, "reference_id": "MONDO:0007301" }, { "id": 8716, "label": "Alagille syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6624, 7019, 16089, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9245", "GARD:0000804", "ICD9:759.89", "MEDGEN:39014", "MESH:D016738", "MedDRA:10053870", "NANDO:1200918", "NANDO:1200919", "NANDO:2200931", "NCIT:C35139", "NORD:748", "OMIMPS:118450", "Orphanet:52", "SCTID:31742004", "UMLS:C0085280", "icd11.foundation:1249656206" ], "synonyms": [ "Alagille syndrome", "Alagille-Watson syndrome", "Arteriohepatic dysplasia", "syndromic bile duct paucity", "Cardiovertebral syndrome", "Hepatofacioneurocardiovertebral syndrome", "Watson Alagille syndrome", "Watson-Miller syndrome", "hepatic ductular hypoplasia", "paucity of interlobular bile ducts" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys." }, "child_count": 15, "reference_id": "MONDO:0007318" }, { "id": 8719, "label": "autosomal dominant chondrodysplasia punctata", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 16531 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060293", "GARD:0001298", "MEDGEN:303176", "MESH:C563248", "OMIM:118650", "Orphanet:79344", "UMLS:C1442935" ], "synonyms": [ "chondrodysplasia punctata Sheffield type", "chondrodysplasia punctata, Sheffield type", "chondrodysplasia punctata, autosomal dominant", "chondrodysplasia punctata due to vitamin K deficiency", "chondrodysplasia punctata due to warfarin teratogenicity" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Autosomal dominant form of chondrodysplasia punctata." }, "child_count": 6, "reference_id": "MONDO:0007321" }, { "id": 8735, "label": "cleidocranial dysplasia 1", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13994", "GARD:0006118", "ICD9:755.59", "MEDGEN:3486", "MESH:D002973", "NCIT:C75020", "NORD:978", "OMIM:119600", "Orphanet:1452", "SCTID:65976001", "UMLS:C0008928" ], "synonyms": [ "Cleidocranial Dysplasia", "cleidocranial dysostosis", "cleidocranial dysplasia", "CCD", "CLCD", "cleidocranial dysplasia, forme fruste, dental anomalies only", "cleidocranial dysplasia, forme fruste, with brachydactyly", "dysplasia cleidocranial" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems." }, "child_count": 0, "reference_id": "MONDO:0007340" }, { "id": 8736, "label": "cleidorhizomelic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005532", "MEDGEN:350042", "MESH:C536428", "OMIM:119650", "Orphanet:1453", "SCTID:719471002", "UMLS:C1861515" ], "synonyms": [ "Wallis-Zieff-Goldblatt syndrome", "cleidorhizomelic syndrome", "rhizomelic shortness with clavicular defect", "Wallis Zieff Goldblatt syndrome", "brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle", "cleido rhizomelic syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." }, "child_count": 0, "reference_id": "MONDO:0007341" }, { "id": 8741, "label": "cochleosaccular degeneration-cataract syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009418", "MEDGEN:348378", "MESH:C536432", "OMIM:120040", "Orphanet:3233", "SCTID:715528001", "UMLS:C1861512" ], "synonyms": [ "COCHLEOSACCULAR degeneration with progressive cataracts", "Cochleosaccular Degeneration", "Cochleosaccular Degeneration of the inner Ear with progressive cataracts", "Cochleosaccular degeneration of the inner ear and progressive cataracts" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007346" }, { "id": 8745, "label": "renal coloboma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090006", "GARD:0004106", "ICD9:759.89", "MEDGEN:339002", "MESH:C537168", "NCIT:C123230", "OMIM:120330", "Orphanet:1475", "SCTID:446449009", "UMLS:C1852759" ], "synonyms": [ "CAKUT with or without ocular abnormalities", "Papillo-renal syndrome", "coloboma of optic nerve with renal disease", "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities", "papillorenal syndrome", "renal-coloboma syndrome with macular abnormalities", "PAPILLORENAL syndrome", "PAPRS", "optic coloboma, vesicoureteral reflux, and renal anomalies", "optic nerve coloboma with renal disease", "renal-coloboma syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." }, "child_count": 0, "reference_id": "MONDO:0007352" }, { "id": 8795, "label": "Cri-du-chat syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17311 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:2", "DOID:12580", "GARD:0006213", "ICD9:758.31", "ICD9:758.39", "MEDGEN:41345", "MESH:D003410", "MedDRA:10011385", "NANDO:1200684", "NANDO:2200961", "NCIT:C34518", "NORD:1015", "OMIM:123450", "Orphanet:281", "SCTID:70173007", "UMLS:C0010314", "icd11.foundation:620584190" ], "synonyms": [ "5p deletion syndrome", "5p partial monosomy syndrome", "Cat-Cry syndrome", "Cri du Chat Syndrome", "Cri du chat syndrome", "Cri-du-chat syndrome", "chromosome 5p deletion syndrome", "deletion 5p", "monosomy type 5p", "5p minus syndrome", "5p- syndrome", "Cat Cry syndrome", "chromosome 5P deletion syndrome", "chromosome 5p- syndrome", "monosomy 5p" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0007404" }, { "id": 8810, "label": "autosomal dominant deafness - onychodystrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080720", "GARD:0004732", "MEDGEN:382676", "OMIM:124480", "Orphanet:79499", "UMLS:C2675730" ], "synonyms": [ "DDOD syndrome", "autosomal dominant deafness-onychodystrophy syndrome", "deafness-onychodystrophy syndrome, autosomal dominant", "DDOD", "Ddod syndrome", "Robinson Miller Bensimon syndrome", "Robinson-Miller-Bensimon syndrome", "deafness and onychodystrophy, dominant form", "deafness, congenital, and onychodystrophy, autosomal dominant", "deafness, congenital, with onychodystrophy, autosomal dominant", "familial ectodermal dysplasia with sensori-neural deafness and other anomalies" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." }, "child_count": 0, "reference_id": "MONDO:0007420" }, { "id": 8822, "label": "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13945", "GARD:0024558", "ICD9:323.9", "ICD9:447.8", "MEDGEN:199687", "NANDO:1200545", "OMIMPS:125310", "UMLS:C0751587" ], "synonyms": [ "CADASIL", "cerebral arteriopathy with subcortical infaracts and leukoencephalopathy", "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy", "Casil", "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy", "dementia, hereditary multi-infarct type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 9, "reference_id": "MONDO:0007432" }, { "id": 8860, "label": "Duane retraction syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16052, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12557", "GARD:0006288", "ICD10CM:H50.81", "ICD9:378.71", "MEDGEN:4413", "MESH:D004370", "MedDRA:10013799", "NCIT:C84678", "NORD:1062", "OMIMPS:126800", "Orphanet:233", "SCTID:60318001", "UMLS:C0013261" ], "synonyms": [ "DRS", "DURS", "Duane retraction syndrome", "Duane syndrome", "Duane's syndrome", "Stilling-Turk-Duane syndrome", "Duane anomaly", "retraction syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." }, "child_count": 12, "reference_id": "MONDO:0007473" }, { "id": 8864, "label": "3-M syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060241", "GARD:0005667", "ICD9:756.59", "MEDGEN:336440", "MESH:C535314", "NORD:1767", "OMIMPS:273750", "Orphanet:2616", "SCTID:702342007", "UMLS:C1848862" ], "synonyms": [ "3-M syndrome", "Three M Syndrome", "Yakut short stature syndrome", "three M syndrome", "3M1", "three M syndrome 1", "3-MSBN", "3M syndrome", "dwarfism with tall vertebrae", "gloomy face syndrome Yakut short stature syndrome, included", "three-M slender-boned nanism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." }, "child_count": 9, "reference_id": "MONDO:0007477" }, { "id": 8869, "label": "dyschondrosteosis-nephritis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001994", "MEDGEN:342135", "MESH:C565080", "OMIM:127350", "Orphanet:1765", "UMLS:C1851986" ], "synonyms": [ "dyschondrosteosis and nephritis", "dyschondrosteosis nephritis", "mesomelic shortening and hereditary nephritis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis." }, "child_count": 0, "reference_id": "MONDO:0007482" }, { "id": 8872, "label": "hereditary benign intraepithelial dyskeratosis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19762 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017524", "MEDGEN:75588", "MESH:C562551", "NCIT:C3940", "OMIM:127600", "Orphanet:352657", "SCTID:400014002", "UMLS:C0265966", "icd11.foundation:2059594980" ], "synonyms": [ "HBID", "Witkop-Von Sallmann disease", "hereditary benign corneal intraepithelial dyskeratosis", "Dkbi", "dyskeratosis, hereditary benign intraepithelial" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported." }, "child_count": 0, "reference_id": "MONDO:0007486" }, { "id": 8920, "label": "encephalopathy, recurrent, of childhood", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7209, 23939, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003949", "MEDGEN:342069", "MESH:C536407", "OMIM:130950", "Orphanet:2672", "UMLS:C1851708" ], "synonyms": [ "encephalopathy recurrent of childhood", "encephalopathy, recurrent, of childhood", "Neuhauser Eichner Opitz syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007539" }, { "id": 8923, "label": "Camurati-Engelmann disease", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4997", "GARD:0001072", "ICD10CM:Q78.3", "ICD9:756.59", "MEDGEN:4268", "NANDO:2200970", "NCIT:C84610", "NORD:885", "OMIMPS:131300", "Orphanet:1328", "SCTID:318761000119105", "UMLS:C0011989" ], "synonyms": [ "Camurati-Engelmann disease", "Camurati-Engelmann syndrome", "Camurati-Englemann disease", "progressive diaphyseal dysplasia", "CAEND", "CED", "DPD1", "Engelmann disease", "diaphyseal dysplasia 1, progressive" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." }, "child_count": 4, "reference_id": "MONDO:0007542" }, { "id": 8972, "label": "Felty syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 9682 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11042", "EFO:0007269", "GARD:0008234", "ICD10CM:M05.0", "ICD9:714.1", "MEDGEN:4674", "MESH:D005258", "MedDRA:10016386", "NCIT:C84712", "NORD:1135", "OMIM:134750", "Orphanet:47612", "SCTID:57160007", "UMLS:C0015773" ], "synonyms": [ "Felty syndrome", "Felty's syndrome", "rheumatoid arthritis with splenoadenomegaly and leukopenia", "splenomegaly-neutropenia-rheumatoid arthritis syndrome", "familial Felty's syndrome", "rheumatoid arthritis, splenomegaly and neutropenia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections." }, "child_count": 0, "reference_id": "MONDO:0007603" }, { "id": 8996, "label": "chromosome 16p12.1 deletion syndrome, 520kb", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17317 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:92", "DOID:0060399", "GARD:0024567", "MEDGEN:460626", "MESH:C565001", "NCIT:C129875", "OMIM:136570", "UMLS:C3149276" ], "synonyms": [ "Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)", "chromosome 16p12.1 deletion syndrome", "chromosome 16p12.1 deletion syndrome, type 520kb", "chromosome 16p12.1 deletion syndrome, 520-KB", "fragile site 16P12", "fragile site, Distamycin a type, Rare, fra(16)(p12.1)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects." }, "child_count": 0, "reference_id": "MONDO:0007631" }, { "id": 8999, "label": "Frasier syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050438", "GARD:0002375", "ICD9:759.89", "MEDGEN:215533", "MESH:D052159", "NCIT:C122805", "OMIM:136680", "Orphanet:347", "SCTID:445431000", "UMLS:C0950122", "icd11.foundation:1659542949" ], "synonyms": [ "Frasier syndrome", "Frasier syndrome, autosomal dominant, somatic mutation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma." }, "child_count": 0, "reference_id": "MONDO:0007635" }, { "id": 9008, "label": "Gamstorp-Wohlfart syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050526", "GARD:0012353", "MEDGEN:1814513", "OMIM:137200", "Orphanet:324442", "SCTID:711406009", "UMLS:C5700127", "icd11.foundation:1738677442" ], "synonyms": [ "ARAN-NM", "ARCMT2-NM", "Gamstorp-Wohlfart syndrome", "autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia", "NMAN", "autosomal recessive axonal neuropathy with neuromyotonia", "myokymia, myotonia, and muscle wasting", "neuromyotonia and axonal neuropathy, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment." }, "child_count": 0, "reference_id": "MONDO:0007646" }, { "id": 9020, "label": "Tourette syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4509, 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11119", "EFO:0004895", "ICD10CM:F95.2", "ICD9:307.23", "MEDGEN:21219", "MESH:D005879", "NCIT:C35078", "OMIM:137580", "Orphanet:856", "SCTID:5158005", "UMLS:C0040517", "icd11.foundation:119340957" ], "synonyms": [ "Tourette disease", "Tourette syndrome", "Tourette's syndrome", "motor-verbal tic disorder", "GTS", "Gilles De 50A Tourette syndrome", "Gilles de la Tourette syndrome", "Tourette disorder", "chronic motor tics" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." }, "child_count": 0, "reference_id": "MONDO:0007661" }, { "id": 9024, "label": "glaucoma-sleep apnea syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002483", "MEDGEN:330749", "MESH:C564232", "OMIM:137763", "Orphanet:2085", "UMLS:C1842025" ], "synonyms": [ "glaucoma and sleep apnea", "glaucoma sleep apnea" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children)." }, "child_count": 0, "reference_id": "MONDO:0007666" }, { "id": 9027, "label": "renal cysts and diabetes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18838 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:47", "DOID:0111101", "GARD:0010221", "MEDGEN:96569", "MESH:C535520", "NANDO:2201073", "NCIT:C123018", "OMIM:137920", "Orphanet:93111", "SCTID:446641003", "UMLS:C0431693" ], "synonyms": [ "CAKUT with diabetes", "HNF1B-MODY", "HNF1B-related renal cysts and diabetes syndrome", "MODY5", "RCAD", "RCAD syndrome", "congenital anomalies of the kidney and urinary tract with diabetes", "hepatocyte nuclear Factor 1-beta-associated monogenic diabetes", "maturity onset diabetes of the Young, type 5", "renal cysts and diabetes syndrome", "renal cysts-maturity-onset diabetes of the young syndrome", "renal dysfunction-early-onset diabetes syndrome", "FJHN atypical", "FJHN, atypical", "MODY type 5", "glomerulocystic kidney disease, hypoplastic type", "glomerulocystic kidney, familial hypoplastic", "hyperuricemic nephropathy, familial juvenile, atypical", "maturity-onset diabetes of the Young, type 5", "maturity-onset diabetes of the young type 5" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." }, "child_count": 0, "reference_id": "MONDO:0007669" }, { "id": 9028, "label": "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012827", "Orphanet:69735" ], "synonyms": [ "hypotrichosis lymphedema telangiectasia syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." }, "child_count": 4, "reference_id": "MONDO:0007670" }, { "id": 9036, "label": "GMS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002523", "MEDGEN:374804", "MESH:C564214", "OMIM:138770", "Orphanet:2090", "SCTID:716024001", "UMLS:C1841854" ], "synonyms": [ "GMS syndrome", "Goniodysgenesis-intellectual disability-short stature syndrome", "Goniodysgenesis--intellectual disability--short stature syndrome", "Goniodysgenesis--mental retardation--short stature syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992." }, "child_count": 0, "reference_id": "MONDO:0007679" }, { "id": 9042, "label": "gray platelet syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2702, 4370, 19741 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111044", "GARD:0002562", "MEDGEN:82900", "MESH:D055652", "NCIT:C84741", "OMIM:139090", "Orphanet:721", "SCTID:51720005", "UMLS:C0272302", "icd11.foundation:1818085572" ], "synonyms": [ "Alpha storage pool deficiency", "BDPLT4", "GPS", "gray platelet syndrome", "platelet alpha-granule deficiency", "bleeding disorder, Platelet-type, 4", "marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." }, "child_count": 0, "reference_id": "MONDO:0007686" }, { "id": 9053, "label": "hand-foot-genital syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 6772, 16089, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060739", "GARD:0002594", "ICD9:759.89", "MEDGEN:331103", "MESH:C535627", "MedDRA:10072361", "OMIM:140000", "Orphanet:2438", "SCTID:702425002", "UMLS:C1841679" ], "synonyms": [ "HFGS", "hand-foot-genital syndrome", "hand-foot-uterus syndrome", "HFG", "HFG syndrome", "HFU syndrome", "hand foot genital syndrome", "hand foot uterus syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." }, "child_count": 0, "reference_id": "MONDO:0007698" }, { "id": 9064, "label": "facial hemiatrophy", "isLeaf": true, "isRoot": false, "parents": [ 4235, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1757", "GARD:0007338", "MEDGEN:8761", "MESH:D005150", "NCIT:C116916", "OMIM:141300", "Orphanet:1214", "SCTID:718224004", "UMLS:C0015458" ], "synonyms": [ "Romberg syndrome", "hemifacial atrophy", "parry-Romberg syndrome", "progressive facial hemiatrophy", "progressive hemifacial atrophy", "HFA", "PHA", "Romberg hemi-facial atrophy", "hemifacial atrophy, progressive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved." }, "child_count": 0, "reference_id": "MONDO:0007710" }, { "id": 9065, "label": "Bencze syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002633", "MEDGEN:330655", "MESH:C564199", "OMIM:141350", "Orphanet:1241", "SCTID:733046006", "UMLS:C1841640" ], "synonyms": [ "Bencze syndrome", "hemifacial hyperplasia-strabismus syndrome", "hemifacial hyperplasia strabismus", "hemifacial hyperplasia with strabismus" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." }, "child_count": 0, "reference_id": "MONDO:0007711" }, { "id": 9069, "label": "alpha thalassemia-intellectual disability syndrome type 1", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7217, 17317 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:65", "DOID:0110029", "GARD:0016862", "ICD9:282.49", "MEDGEN:162892", "MESH:C563050", "NORD:1879", "OMIM:141750", "Orphanet:98791", "SCTID:277918006", "UMLS:C0795917" ], "synonyms": [ "ATR syndrome linked to chromosome 16", "ATR syndrome, deletion type", "ATR-16 Syndrome", "ATR-16 syndrome", "Alpha thalassemia-intellectual disability syndrome", "Alpha thalassemia-intellectual disability syndrome, deletion type", "Alpha thalassemia-mental retardation syndrome", "Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16", "alpha thalassemia-intellectual disability syndrome, deletion type", "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16", "alpha-thalassemia/intellectual disability syndrome, deletion-type", "alpha-thalassemia/intellectual disability syndrome, type 1", "alpha-thalassemia/mental retardation syndrome, deletion-type", "ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related", "ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related", "ATR, deletion-type", "Alpha-thalassemia/intellectual disability syndrome, deletion-type", "Alpha-thalassemia/mental retardation syndrome, deletion-type", "Haemoglobin H-related intellectual disability", "Haemoglobin H-related mental retardation", "Hemoglobin H-related intellectual disability", "Hemoglobin H-related mental retardation", "chromosome 16P deletion syndrome", "intellectual disability with Haemoglobin H", "intellectual disability with Hemoglobin H", "mental retardation with Haemoglobin H", "mental retardation with Hemoglobin H" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." }, "child_count": 0, "reference_id": "MONDO:0007716" }, { "id": 9096, "label": "Gilbert syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4498 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2739", "EFO:0005556", "ICD10CM:E80.4", "MEDGEN:4891", "MESH:D005878", "NCIT:C84729", "OMIM:143500", "Orphanet:357", "SCTID:27503000", "UMLS:C0017551", "icd11.foundation:1947520963" ], "synonyms": [ "Gilbert disease", "Gilbert syndrome", "Gilbert's syndrome", "familial cholemia", "hyperbilirubinemia type 1", "hyperbilirubinemia 1", "hyperbilirubinemia, Arias type", "hyperbilirubinemia, Gilbert type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice." }, "child_count": 0, "reference_id": "MONDO:0007745" }, { "id": 9140, "label": "mullerian duct anomalies-limb anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002908", "MEDGEN:327078", "MESH:C537155", "OMIM:146160", "Orphanet:2491", "UMLS:C1840335" ], "synonyms": [ "Müllerian duct anomalies-limb anomalies syndrome", "hypomelia mullerian duct anomalies", "hypomelia with mullerian duct anomalies", "limb uterus syndrome", "limb-uterus syndrome", "severe upper limb hypoplasia and Mullerian duct anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007795" }, { "id": 9142, "label": "hypoparathyroidism-deafness-renal disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 17315 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060878", "GARD:0002911", "MEDGEN:374443", "MESH:C537907", "NCIT:C130983", "NORD:837", "OMIM:146255", "Orphanet:2237", "SCTID:724282009", "UMLS:C1840333" ], "synonyms": [ "Barakat Syndrome", "Barakat syndrome", "HDR syndrome", "hypoparathyroidism, deafness, and renal anomalies syndrome", "hypoparathyroidism, sensorineural deafness, and renal disease", "hypoparathyroidism-deafness-renal disease syndrome", "HDR", "hypoparathyroidism, sensorineural deafness, and renal dysplasia", "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome", "nephrosis, nerve deafness, and hypoparathyroidism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease." }, "child_count": 0, "reference_id": "MONDO:0007797" }, { "id": 9144, "label": "chromosome 18p deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17305 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060406", "GARD:0020818", "ICD9:758.39", "MEDGEN:96604", "MESH:C538309", "NCIT:C84521", "OMIM:146390", "Orphanet:1598", "Orphanet:261974", "SCTID:270890001", "UMLS:C0432442", "icd11.foundation:121037615" ], "synonyms": [ "18p syndrome", "18p-", "chromosome 18p deletion", "chromosome 18p deletion syndrome", "deletion 18p syndrome", "monosomy type 18p", "partial deletion of chromosome 18p", "partial deletion of the short arm of chromosome 18", "partial deletion of the short arm of chromosome type 18", "partial monosomy of chromosome 18p", "partial monosomy of the short arm of chromosome 18" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18." }, "child_count": 0, "reference_id": "MONDO:0007800" }, { "id": 9147, "label": "Pallister-Hall syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16088, 18727, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9248", "GARD:0007305", "ICD9:759.89", "MEDGEN:120514", "MESH:D054975", "NCIT:C84987", "NORD:1545", "OMIM:146510", "Orphanet:672", "SCTID:56677004", "UMLS:C0265220", "icd11.foundation:1845613381" ], "synonyms": [ "PHS", "Pallister Hall syndrome", "Pallister-Hall syndrome", "ano-cerebro-digital syndrome", "hypothalamic hamartoblastoma syndrome", "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." }, "child_count": 4, "reference_id": "MONDO:0007804" }, { "id": 9153, "label": "ichthyosis-cheek-eyebrow syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:326697", "MESH:C536084", "OMIM:146720", "Orphanet:2267", "SCTID:716097001", "UMLS:C1840283" ], "synonyms": [ "Sidransky-Feinstein-Goodman syndrome", "Ice syndrome", "Sidransky Feinstein Goodman syndrome", "ichthyosis cheek eyebrow syndrome", "ichthyosis--cheek--eyebrow syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007811" }, { "id": 9174, "label": "Jacobsen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17329, 18746 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111723", "GARD:0000307", "MEDGEN:162878", "NCIT:C75457", "OMIM:147791", "Orphanet:2308", "SCTID:715438008", "UMLS:C0795841", "icd11.foundation:27788176" ], "synonyms": [ "11q terminal deletion disorder", "Del(11)(q23.3)", "Del(11)(qter)", "Jacobsen syndrome", "Jacobsen syndrome, Isolated cases", "distal deletion 11q", "distal monosomy 11q", "monosomy 11qter", "telomeric deletion 11q", "JBS", "chromosome 11q deletion syndrome", "partial 11q monosomy syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." }, "child_count": 0, "reference_id": "MONDO:0007838" }, { "id": 9189, "label": "palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 17917 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017977", "MEDGEN:322722", "MESH:C536153", "OMIM:148360", "Orphanet:538574", "UMLS:C1835671" ], "synonyms": [ "keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy", "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy", "axonal neuropathy with palmoplantar keratoderma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 2, "reference_id": "MONDO:0007853" }, { "id": 9192, "label": "palmoplantar keratoderma-esophageal carcinoma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17919 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111506", "GARD:0003102", "MEDGEN:324338", "MESH:C536164", "OMIM:148500", "Orphanet:2198", "SCTID:111030006", "UMLS:C1835664" ], "synonyms": [ "Bennion-Patterson syndrome", "Howell-Evans syndrome", "keratosis palmoplantaris-esophageal carcinoma syndrome", "palmoplantar hyperkeratosis-esophageal carcinoma syndrome", "palmoplantar keratoderma-esophageal carcinoma syndrome", "tylosis-oesophageal carcinoma syndrome", "Toc", "howel-Evans syndrome", "keratosis palmaris Et plantaris with esophageal cancer", "keratosis palmaris et plantaris with esophageal cancer", "keratosis palmoplantaris with esophageal cancer", "palmoplantar keratoderma with esophageal cancer", "tylosis - oesophageal carcinoma", "tylosis with esophageal cancer" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern." }, "child_count": 0, "reference_id": "MONDO:0007856" }, { "id": 9199, "label": "Kleine-Levin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6406 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060165", "EFO:1001354", "GARD:0003117", "MEDGEN:61511", "MESH:D017593", "MedDRA:10053712", "NCIT:C84800", "NORD:1334", "OMIM:148840", "Orphanet:33543", "SCTID:111488004", "UMLS:C0206085", "icd11.foundation:1180849398" ], "synonyms": [ "Kleine-Levin syndrome", "Kleine Levin syndrome", "Kleine-LEVIN hibernation syndrome", "familial Kleine-Levin syndrome", "familial hibernation syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances." }, "child_count": 0, "reference_id": "MONDO:0007863" }, { "id": 9200, "label": "angioosteohypertrophic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 7065, 19480, 19507 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2926", "GARD:0003122", "MEDGEN:9646", "MESH:D007715", "MedDRA:10051452", "NANDO:1200884", "NANDO:2201030", "NCIT:C84801", "NORD:1337", "OMIM:149000", "Orphanet:2346", "Orphanet:90308", "SCTID:721105004", "UMLS:C0022739", "icd11.foundation:1561120378" ], "synonyms": [ "Klippel Trenaunay syndrome", "Klippel-Trenaunay Syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenaunay-Weber syndrome", "Klippel-Trenaunay-Weber syndrome, Isolated cases", "Klippel-Trénaunay syndrome", "Klippel-Trénaunay-Weber syndrome", "Weber-Klippel-Trenaunay", "angioosteohypertrophy syndrome", "haemangiectatic hypertrophy", "KTS", "Ktw syndrome", "angio-osteohypertrophy syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb." }, "child_count": 0, "reference_id": "MONDO:0007864" }, { "id": 9216, "label": "congenital laryngeal web", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6195 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016596", "MEDGEN:372058", "MESH:C537676", "MESH:C563636", "MedDRA:10023871", "NCIT:C98970", "OMIM:150360", "Orphanet:2374", "SCTID:444921008", "UMLS:C1835494", "icd11.foundation:1641764672" ], "synonyms": [ "Laryngeal web", "gay Feinmesser Cohen syndrome", "glottic web, congenital anterior", "laryngeal web, congenital heart disease and low stature", "laryngeal web, familial", "subglottic Bar", "subglottic bar, congenital heart disease and low stature", "subglottic web" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." }, "child_count": 0, "reference_id": "MONDO:0007880" }, { "id": 9227, "label": "Lenz-Majewski hyperostotic dwarfism", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111507", "GARD:0003223", "MEDGEN:98483", "MESH:C537115", "OMIM:151050", "Orphanet:2658", "UMLS:C0432269", "icd11.foundation:1509425242" ], "synonyms": [ "Lenz-Majewski hyperostotic dwarfism", "LMHD", "Lenz Majewski hyperostotic dwarfism", "Lenz-Majewski hyperostotic dysplasia", "Lenz-Majewski syndrome", "hyperostotic dwarfism Lenz-Majewski type", "multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis", "multiple congenital anomalies, mental retardation and progressive skeletal sclerosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." }, "child_count": 0, "reference_id": "MONDO:0007892" }, { "id": 9228, "label": "Noonan syndrome with multiple lentigines", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 16089, 19780 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14291", "GARD:0001100", "ICD9:709.09", "MEDGEN:104494", "MESH:D044542", "MedDRA:10062901", "NCIT:C84820", "NORD:1360", "OMIMPS:151100", "Orphanet:500", "SCTID:111306001", "UMLS:C0175704", "icd11.foundation:939197023" ], "synonyms": [ "Cardiomyopathic lentiginosis", "LEOPARD syndrome", "Noonan syndrome with multiple lentigines", "familial multiple lentigines syndrome", "generalised lentiginosis", "lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness", "Moynahan syndrome", "lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features." }, "child_count": 12, "reference_id": "MONDO:0007893" }, { "id": 9250, "label": "lymphedema-cerebral arteriovenous anomaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009217", "MEDGEN:322617", "MESH:C563612", "OMIM:152900", "Orphanet:86914", "UMLS:C1835272" ], "synonyms": [ "lymphedema and cerebral arteriovenous anomaly", "primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children." }, "child_count": 0, "reference_id": "MONDO:0007917" }, { "id": 9251, "label": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 2903, 3394, 4370, 19000, 19154, 23165, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060349", "GARD:0003622", "MEDGEN:320559", "MESH:C537711", "OMIM:152950", "Orphanet:2526", "UMLS:C1835265" ], "synonyms": [ "KIF11-associated disorder", "MCLMR", "MLCRD", "MLCRD syndrome", "lymphedema, microcephaly and chorioretinopathy syndrome", "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", "microcephaly, lymphedema, chorioretinal dysplasia syndrome", "KIF11 disease", "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0007918" }, { "id": 9254, "label": "yellow nail syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050468", "EFO:1001452", "GARD:0000184", "ICD10CM:L60.5", "ICD9:703.8", "ICD9:757.0", "MEDGEN:113164", "MESH:D056684", "MedDRA:10048244", "NCIT:C85238", "NORD:1874", "OMIM:153300", "Orphanet:662", "SCTID:400211001", "UMLS:C0221348", "icd11.foundation:47812081" ], "synonyms": [ "YNS", "lymphedema with yellow nails", "yellow nail syndrome", "Yns", "lymphedema and Yellow nails" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." }, "child_count": 0, "reference_id": "MONDO:0007921" }, { "id": 9255, "label": "lymphedema-distichiasis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111509", "GARD:0000333", "ICD9:743.63", "MEDGEN:75566", "MESH:C537710", "NCIT:C128191", "NORD:1383", "OMIM:153400", "Orphanet:33001", "SCTID:8634009", "UMLS:C0265345" ], "synonyms": [ "lymphedema-distichiasis syndrome", "hereditary lymphedema-distichiasis syndrome (subtype)", "lymphedema with distichiasis", "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." }, "child_count": 0, "reference_id": "MONDO:0007922" }, { "id": 9273, "label": "Nager acrofacial dysostosis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 25067 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5768", "GARD:0000498", "MEDGEN:120519", "MESH:C538184", "NORD:1487", "OMIM:154400", "Orphanet:245", "SCTID:35520007", "UMLS:C0265245" ], "synonyms": [ "NAFD", "Nager Syndrome", "Nager acrofacial dysostosis", "Nager acrofacial dysostosis syndrome", "Nager syndrome", "acrofacial dysostosis 1, Nager type", "mandibulofacial dysostosis with preaxial limb anomalies", "preaxial acrodysostosis", "AFD", "AFD, Nager type", "AFD1", "mandibulofacial dysostosis, Treacher Collins type, with limb anomalies", "preaxial acrofacial dysostosis", "preaxial manibulofacial dysostosis", "split hand deformity-mandibulofacial dysostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." }, "child_count": 0, "reference_id": "MONDO:0007943" }, { "id": 9276, "label": "jaw-winking syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5469, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:560", "GARD:0006972", "ICD9:374.43", "ICD9:742.8", "MEDGEN:120582", "MESH:C535908", "MedDRA:10064583", "NORD:1401", "OMIM:154600", "Orphanet:91412", "SCTID:5127009", "UMLS:C0266521", "icd11.foundation:590216180" ], "synonyms": [ "Marcus Gunn Phenomenon", "Marcus Gunn phenomenon", "Marcus Gunn syndrome", "Marcus-Gunn phenomenon", "Marcus-Gunn syndrome", "Maxillopalpebral synkinesis", "jaw-winking", "jaw-winking syndrome", "mandibulo-palpebral synkinesis-ptosis syndrome", "abnormal innervation syndrome of eyelid", "familial Marcus Gunn phenomenon (subtype)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Marcus-Gunn syndrome is characterized by ptosis associated with maxillopalpebral synkinesis." }, "child_count": 6, "reference_id": "MONDO:0007946" }, { "id": 9277, "label": "Marfan syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 6893, 17630 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14323", "GARD:0016535", "ICD10CM:Q87.4", "ICD9:759.82", "MEDGEN:44287", "MESH:D008382", "MedDRA:10026829", "NANDO:1200644", "NANDO:2200968", "NCIT:C34807", "NORD:1403", "OMIM:154700", "Orphanet:284963", "Orphanet:558", "SCTID:19346006", "UMLS:C0024796", "icd11.foundation:236564145" ], "synonyms": [ "MFS", "MFS1", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, type 1", "Marfan's syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person." }, "child_count": 4, "reference_id": "MONDO:0007947" }, { "id": 9297, "label": "Melkersson-Rosenthal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4235, 4239, 4370, 7148 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1761", "EFO:1001039", "GARD:0007010", "ICD10CM:G51.2", "MEDGEN:6291", "MESH:D008556", "MedDRA:10027166", "NCIT:C84886", "NORD:1429", "OMIM:155900", "Orphanet:2483", "UMLS:C0025235" ], "synonyms": [ "Melkersson's syndrome", "Melkersson-Rosenthal syndrome", "MRS", "Melkersson syndrome", "Mros", "cheilitis Granulomatosa" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0006858", "name": "mouth disorder" } ], "definition": "The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected." }, "child_count": 0, "reference_id": "MONDO:0007969" }, { "id": 9308, "label": "metaphyseal chondrodysplasia, Jansen type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080020", "GARD:0000079", "MEDGEN:120529", "MESH:C537564", "NCIT:C131868", "NORD:1307", "OMIM:156400", "Orphanet:33067", "SCTID:24629003", "UMLS:C0265295", "icd11.foundation:1652660420" ], "synonyms": [ "Jansen Type Metaphyseal Chondrodysplasia", "Jansen type metaphyseal chondrodysplasia", "metaphyseal chondrodysplasia murk Jansen type", "metaphyseal chondrodysplasia, Jansen type", "metaphyseal chondrodysplasia, murk Jansen type", "murk Jansen type metaphyseal chondrodysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia." }, "child_count": 0, "reference_id": "MONDO:0007982" }, { "id": 9309, "label": "Schmid metaphyseal chondrodysplasia", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080021", "GARD:0007029", "MEDGEN:78550", "MESH:C537352", "NORD:1444", "OMIM:156500", "Orphanet:174", "SCTID:29248006", "UMLS:C0265289" ], "synonyms": [ "MCDS", "Metaphyseal Chondrodysplasia, Schmid Type", "metaphyseal chondrodysplasia Schmid type", "metaphyseal chondrodysplasia, Schmid type", "spondylometaphyseal dysplasia, Japanese type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare skeletal disorder caused by a variation in COL10A1 gene and is characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait." }, "child_count": 0, "reference_id": "MONDO:0007983" }, { "id": 9310, "label": "metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111513", "GARD:0003568", "MEDGEN:762788", "OMIM:156510", "Orphanet:2504", "UMLS:C3549874" ], "synonyms": [ "MDMHB", "metaphyseal dysplasia maxillary hypoplasia brachydactyly", "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait." }, "child_count": 0, "reference_id": "MONDO:0007984" }, { "id": 9319, "label": "microgastria-limb reduction defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003640", "MEDGEN:322532", "MESH:C537554", "OMIM:156810", "Orphanet:2538", "UMLS:C1834929" ], "synonyms": [ "MLRD", "congenital microgastria and limb reduction defects", "microgastria limb reduction defect", "microgastria-limb reduction defects association" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the association of microgastria with a limb reduction defect." }, "child_count": 0, "reference_id": "MONDO:0007993" }, { "id": 9332, "label": "Mobius syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4235, 4370, 4427, 16052, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13501", "GARD:0008549", "ICD9:759.89", "MEDGEN:66357", "MESH:D020331", "MedDRA:10027789", "MedDRA:10030069", "NANDO:1200559", "NANDO:2200980", "NCIT:C84893", "NORD:1453", "OMIM:157900", "Orphanet:570", "SCTID:89444000", "UMLS:C0221060" ], "synonyms": [ "MBS", "Mobius syndrome", "Moebius Syndrome", "Moebius sequence", "Moebius syndrome", "Moebius syndrome, Isolated cases", "Möbius syndrome", "congenital facial diplegia", "oromandibular-limb hypogenesis spectrum", "absence or underdevelopment of the 6th and 7th cranial nerves", "congenital facial diplegia syndrome", "congenital oculofacial paralysis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies." }, "child_count": 5, "reference_id": "MONDO:0008006" }, { "id": 9349, "label": "muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6639, 24045 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002417", "ICD9:728.2", "MEDGEN:137966", "OMIM:158500", "Orphanet:2579", "SCTID:237611007", "UMLS:C0342281" ], "synonyms": [ "Furukawa-Takagi-Nakao syndrome", "muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus", "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus." }, "child_count": 0, "reference_id": "MONDO:0008023" }, { "id": 9384, "label": "nail-patella syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 7019, 18362 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9467", "GARD:0007160", "ICD9:759.89", "MEDGEN:10257", "MESH:D009261", "MedDRA:10063431", "NANDO:1200967", "NANDO:2200132", "NCIT:C75120", "NORD:1488", "OMIM:161200", "Orphanet:2614", "SCTID:22199006", "UMLS:C0027341", "icd11.foundation:1121867410" ], "synonyms": [ "Fong disease", "NPS 1", "NPS1", "Nail Patella Syndrome", "Turner-Kieser syndrome", "hereditary Osteo-onychodysplasia", "nail-patella syndrome", "onychoosteodysplasia", "osteo-onychodysplasia", "NPS", "arthro-onychodysplasia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies." }, "child_count": 0, "reference_id": "MONDO:0008061" }, { "id": 9429, "label": "Schilbach-Rott syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002930", "MEDGEN:371716", "MESH:C563509", "OMIM:164220", "Orphanet:2353", "SCTID:721902002", "UMLS:C1834038" ], "synonyms": [ "BRSS", "Schilbach-Rott syndrome", "hypotelorism-cleft palate-hypospadias syndrome", "blepharofacioskeletal syndrome", "cleft palate, hypotelorism, and hypospadias", "hypotelorism cleft palate hypospadias", "ocular hypotelorism, submucosal cleft palate, and hypospadias" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." }, "child_count": 0, "reference_id": "MONDO:0008113" }, { "id": 9450, "label": "syndromic orbital border hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016858", "MEDGEN:318965", "MESH:C563490", "OMIM:165600", "Orphanet:98606", "SCTID:717337001", "UMLS:C1833795" ], "synonyms": [ "Urrets-Zavalia syndrome", "orbital margin, hypoplasia OF" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." }, "child_count": 0, "reference_id": "MONDO:0008138" }, { "id": 9468, "label": "Buschke-Ollendorff syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6893, 20345 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111536", "GARD:0027355", "MEDGEN:120545", "MESH:C537415", "OMIM:166700", "Orphanet:1306", "UMLS:C0265514", "icd11.foundation:1556522143" ], "synonyms": [ "Buschke-Ollendorff syndrome", "osteopoikilosis with or without melorheostosis", "Bos", "Buschke Ollendorff syndrome", "Dermatoosteopoikilosis", "dermatofibrosis lenticularis disseminata with osteopoikilosis", "dermatofibrosis lenticularis disseminata, isolated", "dermatofibrosis, disseminated with osteopoikilosis", "dermatofibrosis, disseminated, with osteopoikilosis", "osteopathia condensans disseminata", "osteopoikilosis with melorheostosis", "osteopoikilosis, isolated" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin." }, "child_count": 0, "reference_id": "MONDO:0008157" }, { "id": 9493, "label": "nasopalpebral lipoma-coloboma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003927", "MEDGEN:358378", "MESH:C538338", "OMIM:167730", "Orphanet:2399", "SCTID:723411003", "UMLS:C1868660" ], "synonyms": [ "nasopalpebral lipoma-coloboma syndrome", "NASOPALPEBRAL lipoma-coloboma syndrome", "NPLCS", "Nasopalpebral lipoma coloboma syndrome", "palpebral coloboma lipoma syndrome", "palpebral coloboma-lipoma syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus." }, "child_count": 0, "reference_id": "MONDO:0008182" }, { "id": 9510, "label": "Perry syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20335, 24343 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060486", "GARD:0010453", "ICD9:348.89", "MEDGEN:357007", "MESH:C566822", "NANDO:1200547", "OMIM:168605", "Orphanet:178509", "SCTID:699184009", "UMLS:C1868594", "icd11.foundation:1441227658" ], "synonyms": [ "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome", "parkinsonism with alveolar hypoventilation and mental depression" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." }, "child_count": 0, "reference_id": "MONDO:0008201" }, { "id": 9569, "label": "Poland syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16594, 18956, 19479, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12961", "GARD:0007412", "ICD9:756.89", "MEDGEN:10822", "MESH:D011045", "MedDRA:10036007", "NCIT:C85017", "NORD:1587", "OMIM:173800", "Orphanet:2911", "SCTID:38371006", "UMLS:C0032357", "icd11.foundation:1364451323" ], "synonyms": [ "Poland anomaly", "Poland sequence", "Poland syndrome", "Poland syndactyly", "Poland's syndrome", "pectoralis muscle, absence of", "unilateral defect of pectoralis muscle and syndactyly of the hand" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0002657", "name": "breast disorder" } ], "definition": "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly." }, "child_count": 0, "reference_id": "MONDO:0008262" }, { "id": 9575, "label": "polydactyly-myopia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004413", "ICD9:625.4", "MEDGEN:357424", "MESH:C536331", "OMIM:174310", "Orphanet:2917", "SCTID:82639001", "UMLS:C1868117" ], "synonyms": [ "Czeizel-Brooser syndrome", "polydactyly-myopia syndrome", "Czeizel Brooser syndrome", "PMS", "polydactyly myopia syndrome", "polydactyly, postaxial, with progressive myopia", "postaxial polydactyly with progressive myopia", "postaxial polydactyly-progressive myopia syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986." }, "child_count": 0, "reference_id": "MONDO:0008268" }, { "id": 9593, "label": "Greig cephalopolysyndactyly syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14761", "GARD:0006550", "MEDGEN:120531", "MESH:C537300", "MedDRA:10053878", "NCIT:C35255", "NORD:1206", "OMIM:175700", "Orphanet:380", "SCTID:32985001", "UMLS:C0265306", "icd11.foundation:606500237" ], "synonyms": [ "GCPS", "Greig cephalopolysyndactyly syndrome", "Greig cephalosyndactyly syndrome", "Greig's syndrome", "Greig syndrome", "polysyndactyly with peculiar skull Shape" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." }, "child_count": 2, "reference_id": "MONDO:0008287" }, { "id": 9606, "label": "Prader-Willi syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4427, 16088, 16526, 18950, 23791, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11983", "GARD:0005575", "ICD10CM:Q87.11", "ICD9:759.81", "MEDGEN:46057", "MESH:D011218", "MedDRA:10036476", "NANDO:1200678", "NANDO:2200411", "NCIT:C75463", "NORD:1602", "OMIM:176270", "Orphanet:739", "SCTID:89392001", "UMLS:C0032897", "icd11.foundation:393773440" ], "synonyms": [ "Prader-Labhart-Willi syndrome", "Prader-Willi syndrome", "Prader-Willi-Labhart syndrome", "Willi-Prader syndrome", "PWS", "Prader-Willi syndrome chromosome region", "Prader-Willi-like syndrome associated with chromosome 6", "obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet", "obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems." }, "child_count": 35, "reference_id": "MONDO:0008300" }, { "id": 9607, "label": "Guttmacher syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111544", "GARD:0004470", "MEDGEN:401304", "MESH:C538278", "OMIM:176305", "Orphanet:2957", "SCTID:722452004", "UMLS:C1867801" ], "synonyms": [ "Guttmacher syndrome", "preaxial deficiency-postaxial polydactyly-hypospadias syndrome", "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias", "preaxial deficiency, postaxial polydactyly and hypospadias", "preaxial deficiency, postaxial polydactyly, and hypospadias" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." }, "child_count": 0, "reference_id": "MONDO:0008301" }, { "id": 9611, "label": "Currarino triad", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111546", "GARD:0001626", "ICD9:759.89", "MEDGEN:323460", "MESH:C536221", "OMIM:176450", "Orphanet:1552", "SCTID:413936007", "UMLS:C1531773", "icd11.foundation:1532133816" ], "synonyms": [ "Currarino syndrome", "Currarino triad", "CURRARINO syndrome", "Scra1", "partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation", "sacral agenesis syndrome", "sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)." }, "child_count": 0, "reference_id": "MONDO:0008305" }, { "id": 9616, "label": "Hutchinson-Gilford progeria syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 16199, 19478, 20345 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3911", "GARD:0007467", "ICD9:259.8", "MEDGEN:46123", "MedDRA:10036794", "NANDO:1201007", "NANDO:2200833", "NCIT:C34951", "NORD:1257", "OMIM:176670", "Orphanet:740", "SCTID:238870004", "UMLS:C0033300" ], "synonyms": [ "progeria", "HGPS", "Hutchinson-Gilford disease", "Hutchinson-Gilford progeria", "Hutchinson-Gilford progeria syndrome", "premature senility syndrome", "Hutchinson Gilford progeria syndrome", "progeria syndrome, childhood-onset" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, "child_count": 0, "reference_id": "MONDO:0008310" }, { "id": 9617, "label": "progeria-short stature-pigmented nevi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061154", "GARD:0004494", "ICD9:759.89", "MEDGEN:224702", "MESH:C536422", "NORD:1473", "OMIM:176690", "Orphanet:2959", "SCTID:399947002", "UMLS:C1261128" ], "synonyms": [ "Mulvihill-Smith Syndrome", "Mulvihill-Smith syndrome", "progeroid short stature with pigmented nevi" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Progeria-short stature-pigmented nevi is a progeroid disorder characterized by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat." }, "child_count": 0, "reference_id": "MONDO:0008311" }, { "id": 9629, "label": "Liddle syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 8001, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050477", "GARD:0007381", "MEDGEN:67439", "MESH:D056929", "MedDRA:10037113", "MedDRA:10052313", "NANDO:2100131", "NANDO:2200363", "NCIT:C84827", "NORD:2034", "OMIMPS:177200", "Orphanet:526", "SCTID:707747007", "UMLS:C0221043" ], "synonyms": [ "Liddle syndrome", "pseudoaldosteronism", "pseudohyperaldosteronism type 1", "LIDLS" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone." }, "child_count": 9, "reference_id": "MONDO:0008323" }, { "id": 9632, "label": "exfoliation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3759, 4370, 4401, 18318 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13641", "EFO:0004235", "GARD:0027786", "ICD9:365.52", "MEDGEN:60133", "MESH:D017889", "NCIT:C129025", "Orphanet:529819", "SCTID:111514006", "UMLS:C0206368" ], "synonyms": [ "XFG", "XFS", "pseudoexfoliation glaucoma" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma." }, "child_count": 0, "reference_id": "MONDO:0008327" }, { "id": 9645, "label": "ptosis-strabismus-ectopic pupils syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004577", "MEDGEN:356778", "MESH:C566736", "OMIM:178330", "Orphanet:2999", "UMLS:C1867437" ], "synonyms": [ "McPherson-Hall syndrome", "ptosis strabismus ectopic pupils", "ptosis, strabismus, and ectopic pupils" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ptosis-strabismus-ectopic pupils syndrome is characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0008341" }, { "id": 9658, "label": "radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000258", "MEDGEN:357271", "MESH:C536262", "OMIM:179250", "Orphanet:2252", "SCTID:716092007", "UMLS:C1867397" ], "synonyms": [ "Schmitt Gillenwater Kelly syndrome", "Schmitt-Gillenwater-Kelly syndrome", "radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema", "radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema", "radial hypoplasia, triphalangeal thumbs and hypospadias" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait." }, "child_count": 0, "reference_id": "MONDO:0008357" }, { "id": 9659, "label": "radial ray hypoplasia-choanal atresia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004627", "MEDGEN:419083", "OMIM:179270", "Orphanet:3026", "SCTID:232373003", "UMLS:C2931464" ], "synonyms": [ "Goldblatt-Viljoen syndrome", "radial RAY hypoplasia with choanal atresia", "radial ray hypoplasia and choanal atresia", "radial ray hypoplasia choanal atresia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus." }, "child_count": 0, "reference_id": "MONDO:0008358" }, { "id": 9691, "label": "Roussy-Levy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004741", "ICD9:334.3", "MEDGEN:64430", "NORD:1679", "OMIM:180800", "Orphanet:3115", "SCTID:45853006", "UMLS:C0205713", "icd11.foundation:1790389383" ], "synonyms": [ "Roussy Lévy Syndrome", "Roussy levy syndrome", "Roussy-Lévy syndrome", "Roussy-levy disease", "Roussy-levy syndrome", "hereditary areflexic dystasia, Roussy-Lévy type", "hereditary areflexic dystasia, Roussy-levy type", "Charcot-Marie-Tooth disease (variant)", "Charcot-Marie-Tooth-Roussy-levy disease", "HMSN I", "Roussy levy hereditary areflexic dystasia", "Roussy-levy hereditary areflexic dystasia", "hereditary areflexic dystasia", "hereditary motor sensory neuropathy I" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0008392" }, { "id": 9693, "label": "Silver-Russell syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 16088, 18950 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14681", "GARD:0004870", "ICD9:759.89", "MEDGEN:104492", "MESH:D056730", "MedDRA:10062282", "NCIT:C85068", "NORD:1683", "OMIMPS:180860", "Orphanet:813", "SCTID:15069006", "UMLS:C0175693", "icd11.foundation:735297495" ], "synonyms": [ "Russell Silver syndrome", "Russell-Silver Syndrome", "Russell-Silver dwarfism", "Russell-Silver syndrome", "SRS", "Silver Russell syndrome", "Silver-Russell dwarfism", "Silver-Russell syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry." }, "child_count": 44, "reference_id": "MONDO:0008394" }, { "id": 9694, "label": "Ruvalcaba syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004748", "ICD9:759.89", "MEDGEN:120520", "MESH:C579395", "OMIM:180870", "Orphanet:3121", "SCTID:3073006", "UMLS:C0265248" ], "synonyms": [ "Ruvalcaba syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay." }, "child_count": 0, "reference_id": "MONDO:0008395" }, { "id": 9695, "label": "oculodental syndrome, Rutherfurd type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000212", "ICD9:759.89", "MEDGEN:163222", "MESH:C537732", "OMIM:180900", "Orphanet:2709", "SCTID:699754008", "UMLS:C0796140", "icd11.foundation:183543626" ], "synonyms": [ "Rutherfurd syndrome", "corneal dystrophy with gum Hypertrophy", "corneal dystrophy with gum hypertrophy", "gingival Hypertrophy with corneal dystrophy", "gingival hypertrophy corneal dystrophy", "gingival hypertrophy-corneal dystrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait." }, "child_count": 0, "reference_id": "MONDO:0008396" }, { "id": 9696, "label": "aplasia of lacrimal and salivary glands", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111549", "GARD:0016759", "MEDGEN:57641", "OMIM:180920", "Orphanet:86815", "SCTID:715656004", "UMLS:C0158667", "icd11.foundation:539255304" ], "synonyms": [ "ALSG", "aplasia of lacrimal and salivary glands", "congenital absence of lacrimal puncta and salivary glands", "parotid aplasia or hypoplasia", "salivary glands, absence of", "salivary glands, absence of, include" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." }, "child_count": 0, "reference_id": "MONDO:0008397" }, { "id": 9702, "label": "scalp defects-postaxial polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6893, 18956, 19143, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000241", "MEDGEN:401140", "MESH:C536622", "OMIM:181250", "Orphanet:1003", "UMLS:C1867021" ], "synonyms": [ "congenital scalp defects associated with postaxial polydactyly", "scalp defects and postaxial polydactyly", "scalp defects postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A." }, "child_count": 0, "reference_id": "MONDO:0008403" }, { "id": 9708, "label": "ulnar-mammary syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060614", "GARD:0000118", "ICD9:759.89", "MEDGEN:357886", "MESH:C536937", "NORD:1695", "OMIM:181450", "Orphanet:3138", "SCTID:700211007", "UMLS:C1866994", "icd11.foundation:1508836700" ], "synonyms": [ "Pallister ulnar-mammary syndrome", "Schinzel Syndrome", "Schinzel syndrome", "UMS", "ulnar-mammary syndrome", "ums", "ulnar-mammary syndrome of Pallister" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." }, "child_count": 0, "reference_id": "MONDO:0008411" }, { "id": 9723, "label": "septooptic dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 2905, 4370, 14137 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060857", "GARD:0007627", "MEDGEN:90926", "MESH:D025962", "MedDRA:10067159", "NANDO:1200560", "NANDO:1200561", "NANDO:2200820", "NCIT:C85063", "OMIM:182230", "Orphanet:3157", "SCTID:7611002", "UMLS:C0338503" ], "synonyms": [ "De Morsier syndrome", "SOD", "septo-optic dysplasia", "septo-optic dysplasia sequence", "septooptic dysplasia", "Growth hormone deficiency with pituitary anomalies", "hypopituitarism and septooptic 'dysplasia'", "pituitary hormone deficiency, combined, 5", "septo-optic dysplasia spectrum", "septo-optic dysplasia with growth hormone deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." }, "child_count": 6, "reference_id": "MONDO:0008428" }, { "id": 9759, "label": "Czeizel-Losonci syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004969", "MEDGEN:401071", "MESH:C566662", "OMIM:183802", "Orphanet:2437", "UMLS:C1866739" ], "synonyms": [ "split hand with obstructive uropathy, spina bifida and diaphragmatic defects", "split hand-urinary anomalies-spina bifida syndrome", "split hand urinary anomalies spina bifida", "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987." }, "child_count": 0, "reference_id": "MONDO:0008467" }, { "id": 9778, "label": "polycystic ovary syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11612", "EFO:0000660", "ICD10CM:E28.2", "ICD9:256.4", "MEDGEN:10836", "MESH:D011085", "NANDO:2100149", "NANDO:2200409", "NCIT:C26862", "OMIM:184700", "Orphanet:3185", "SCTID:69878008", "UMLS:C0032460", "icd11.foundation:1213633323" ], "synonyms": [ "PCOS", "Stein-Leventhal syndrome", "polycystic ovarian disease", "polycystic ovaries", "polycystic ovary syndrome", "PCOS1", "polycystic ovary syndrome 1", "PCO1", "hyperandrogenemia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity." }, "child_count": 0, "reference_id": "MONDO:0008487" }, { "id": 9782, "label": "stiff-person syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13366", "EFO:0007498", "GARD:0005023", "ICD10CM:G25.82", "ICD9:333.91", "MEDGEN:39017", "MESH:D016750", "MedDRA:10042044", "NCIT:C85170", "NORD:1740", "OMIM:184850", "Orphanet:3198", "SCTID:5217008", "UMLS:C0085292" ], "synonyms": [ "Moersch-Woltman syndrome", "Stiff Person Syndrome", "Stiff Person syndrome", "Stiff-man syndrome", "stiff-person syndrome", "Morsch Woltman syndrome", "SMS", "SPS", "STIFF-PERSON syndrome", "Stiff person syndrome and related disorders", "Stiff-Man syndrome", "Stiff-trunk syndrome", "progressive encephalomyelitis with rigidity" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis." }, "child_count": 6, "reference_id": "MONDO:0008491" }, { "id": 9808, "label": "syndactyly-polydactyly-ear lobe syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005090", "MEDGEN:348333", "MESH:C566091", "OMIM:186350", "Orphanet:3259", "UMLS:C1861347" ], "synonyms": [ "Spel syndrome", "hallux syndactyly ulnar polydactyly abnormal ear lobes", "syndactyly-polydactyly-earlobe syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0008517" }, { "id": 9871, "label": "HELLP syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3837, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13133", "EFO:0007297", "GARD:0008528", "ICD10CM:O14.2", "MEDGEN:58162", "MESH:D017359", "MedDRA:10049058", "NCIT:C84750", "Orphanet:244242", "UMLS:C0162739", "icd11.foundation:1748922908" ], "synonyms": [ "hemolysis, elevated liver enzymes, low platelets in pregnancy", "hemolysis-elevated liver enzymes-low platelet count syndrome", "hemolysis-elevated liver enzymes-low platelets syndrome", "PEE1", "PREECLAMPSIA/eclampsia 1", "PREG1", "hemolysis, elevated liver enzymes, and low platelet count", "hemolysis, elevated liver enzymes, lowered platelets", "hypertension, pregnancy-induced", "toxaemia of pregnancy", "toxemia of pregnancy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems." }, "child_count": 0, "reference_id": "MONDO:0008585" }, { "id": 9918, "label": "double uterus-hemivagina-renal agenesis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001910", "MEDGEN:348132", "MESH:C566010", "OMIM:192050", "Orphanet:3411", "SCTID:722431007", "UMLS:C1860549" ], "synonyms": [ "Double uterus and obstructed hemivagina syndrome", "Herlyn-Werner syndrome", "OHVIRA syndrome", "Wunderlich syndrome", "obstructed hemivagina and ipsilateral renal anomaly", "uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present." }, "child_count": 0, "reference_id": "MONDO:0008636" }, { "id": 9924, "label": "VACTERL/vater association", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14679", "GARD:0005443", "ICD9:759.89", "MEDGEN:902479", "MedDRA:10053665", "MedDRA:10066022", "NANDO:1200657", "NANDO:2200983", "NCIT:C99105", "NORD:1818", "OMIM:192350", "Orphanet:887", "SCTID:27742002", "UMLS:C4225671", "icd11.foundation:1452617987" ], "synonyms": [ "VACTERL Association", "VACTERL association", "VATER association", "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome", "VATER/VACTERL association" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." }, "child_count": 1, "reference_id": "MONDO:0008642" }, { "id": 9931, "label": "posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002276", "MEDGEN:348108", "MESH:C536344", "OMIM:192800", "Orphanet:2064", "SCTID:724064004", "UMLS:C1860464" ], "synonyms": [ "Faulk-Epstein-Jones syndrome", "Faulk Epstein Jones syndrome", "congenital ptosis and posterior fusion of lumbosacral vertebrae", "familial posterior lumbosacral vertebral fusion and eyelid ptosis", "vertebral fusion posterior lumbosacral blepharoptosis", "vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters." }, "child_count": 0, "reference_id": "MONDO:0008650" }, { "id": 9942, "label": "ptosis-vocal cord paralysis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000427", "MEDGEN:349807", "MESH:C536923", "OMIM:193240", "Orphanet:2997", "UMLS:C1860403" ], "synonyms": [ "tucker syndrome", "congenital bilateral recurrent nerve paralysis and ptosis", "ptosis vocal cord paralysis", "vocal cord paralysis and ptosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983." }, "child_count": 0, "reference_id": "MONDO:0008665" }, { "id": 9951, "label": "Freeman-Sheldon syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4427, 10051, 16089, 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111604", "DOID:0111605", "GARD:0006466", "MEDGEN:120516", "MESH:C535483", "NCIT:C98931", "NORD:1161", "OMIM:193700", "Orphanet:2053", "SCTID:52616002", "UMLS:C0265224", "icd11.foundation:1314169421" ], "synonyms": [ "Craniocarpotarsal dysplasia", "Craniocarpotarsal dystrophy", "Freeman Sheldon Syndrome", "Freeman Sheldon syndrome", "Freeman-Sheldon syndrome", "arthrogryposis, distal, type 2A (Freeman-Sheldon)", "cranio-carpo-tarsal syndrome", "craniocarpotarsal dysplasia", "craniocarpotarsal dystrophy", "distal arthrogryposis type 2A", "whistling face syndrome", "whistling face-windmill vane hand syndrome", "whistling-face syndrome", "windmill-vane-hand syndrome", "DA2A", "FSS", "arthrogryposis distal type 2A", "arthrogryposis, distal, type 2A" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." }, "child_count": 5, "reference_id": "MONDO:0008675" }, { "id": 9953, "label": "Williams syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17325, 24488 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:3", "DOID:1928", "GARD:0007891", "ICD10CM:Q93.82", "ICD9:759.89", "MEDGEN:59799", "MESH:D018980", "MedDRA:10049644", "NANDO:1200664", "NANDO:2200286", "NCIT:C85232", "NORD:1854", "OMIM:194050", "Orphanet:904", "SCTID:63247009", "UMLS:C0175702" ], "synonyms": [ "Williams syndrome", "Williams-Beuren syndrome", "Williams-Beuren syndrome (WBS)", "deletion 7q11.23", "monosomy 7q11.23", "WBS", "WMS", "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)" }, "child_count": 0, "reference_id": "MONDO:0008678" }, { "id": 9957, "label": "Denys-Drash syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3764", "GARD:0005576", "ICD9:189.0", "MEDGEN:181980", "MESH:D030321", "MedDRA:10070179", "NANDO:2200116", "NCIT:C84668", "NORD:1044", "OMIM:194080", "Orphanet:220", "SCTID:236385009", "UMLS:C0950121", "icd11.foundation:904981302" ], "synonyms": [ "Denys Drash syndrome", "Denys-Drash syndrome", "Denys-Drash syndrome, autosomal dominant, somatic mutation", "Drash syndrome", "Wilms tumor and pseudohermaphroditism", "Wilms tumour and pseudohermaphroditism", "nephrotic syndrome type 4", "DDS", "Wilms tumor and pseudo- or true hermaphroditism", "Wilms tumour and pseudo- or true hermaphroditism", "nephropathy associated with male pseudohermaphroditism and Wilms' tumor", "nephropathy associated with male pseudohermaphroditism and Wilms' tumour", "nephropathy, Wilms tumor, and genital anomalies", "pseudohermaphroditism, nephron disorder and Wilms' tumor", "pseudohermaphroditism, nephron disorder and Wilms' tumour" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma." }, "child_count": 0, "reference_id": "MONDO:0008682" }, { "id": 9959, "label": "Wolf-Hirschhorn syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 20973 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:1", "DOID:0050460", "GARD:0007896", "MEDGEN:408255", "MESH:D054877", "MedDRA:10050361", "NANDO:1200683", "NANDO:2200962", "NCIT:C35528", "NORD:1859", "OMIM:194190", "Orphanet:280", "SCTID:718226002", "UMLS:C1956097", "icd11.foundation:1337401724" ], "synonyms": [ "4p deletion syndrome", "4p- syndrome", "Pitt syndrome", "Pitt-Rogers-Danks syndrome", "Wittwer syndrome", "Wolf-Hirschhorn syndrome", "Wolf-Hirschhorn syndrome, Isolated cases", "chromosome 4p16.3 deletion syndrome", "distal deletion 4p", "distal monosomy 4p", "telomeric deletion 4p", "4p syndrome", "WHS", "Wolf syndrome", "chromosome 4P16.3 deletion syndrome", "chromosome 4p syndrome", "microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." }, "child_count": 0, "reference_id": "MONDO:0008684" }, { "id": 9967, "label": "ablepharon macrostomia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060550", "GARD:0000003", "MEDGEN:395439", "MESH:C535557", "NORD:704", "OMIM:200110", "Orphanet:920", "SCTID:718575002", "UMLS:C1860224" ], "synonyms": [ "AMS", "Ablepharon-Macrostomia Syndrome", "ablepharon-macrostomia syndrome", "congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome." }, "child_count": 0, "reference_id": "MONDO:0008693" }, { "id": 9981, "label": "acrocallosal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 24804, 25049 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9250", "GARD:0005721", "MEDGEN:162915", "MESH:D055673", "NCIT:C84531", "OMIM:200990", "Orphanet:36", "SCTID:715951007", "UMLS:C0796147", "icd11.foundation:1286493807" ], "synonyms": [ "ACLS", "ACS", "Schinzel acrocallosal syndrome", "Schinzel syndrome 1", "acrocallosal syndrome", "Joubert syndrome 12", "Joubert syndrome 12/15, digenic", "absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly", "acrocallosal syndrome, Schinzel type", "hallux Duplication, postaxial polydactyly, and absence of corpus callosum" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0008708" }, { "id": 10014, "label": "PAGOD syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003086", "MEDGEN:347985", "MESH:C537018", "OMIM:202660", "Orphanet:991", "SCTID:722132007", "UMLS:C1859967" ], "synonyms": [ "PAGOD syndrome", "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome", "Kennerknecht sorgo Oberhoffer syndrome", "agonadism with multiple internal malformations", "pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." }, "child_count": 0, "reference_id": "MONDO:0008741" }, { "id": 10029, "label": "alopecia - intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080627", "GARD:0000612", "MEDGEN:444019", "OMIMPS:203650", "Orphanet:2850", "SCTID:716191002", "UMLS:C2931280" ], "synonyms": [ "Perniola-Krajewska-Carnevale syndrome", "alopecia-intellectual disability syndrome", "AMR syndrome 1", "Amr syndrome", "alopecia intellectual disbility syndrome 1", "alopecia with severe intellectual deficit" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." }, "child_count": 8, "reference_id": "MONDO:0008756" }, { "id": 10031, "label": "mitochondrial DNA depletion syndrome 4a", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19748, 21292, 24237 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080122", "DOID:1442", "GARD:0005783", "ICD10CM:G31.81", "ICD9:330.8", "MEDGEN:60012", "MedDRA:10062943", "NCIT:C35257", "NORD:752", "OMIM:203700", "Orphanet:726", "SCTID:20415001", "UMLS:C0205710" ], "synonyms": [ "AHD", "AHS", "Alper syndrome", "Alper's disease", "Alper's syndrome", "Alpers Disease", "Alpers Huttenlocher disease", "Alpers Huttenlocher syndrome", "Alpers disease", "Alpers progressive infantile poliodystrophy", "Alpers progressive sclerosing poliodystrophy", "Alpers syndrome", "Alpers-Huttenlocher", "Alpers-Huttenlocher syndrome", "mitochondrial DNA depletion syndrome 4A", "mitochondrial DNA depletion syndrome type 4a", "progressive neuronal degeneration of childhood with liver disease", "Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis", "Alpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosis", "MTDPS4A", "PNDC", "Poliodystrophia cerebri progressiva", "diffuse cerebral degeneration in infancy", "infantile poliodystrophy", "mitochondrial DNA depletion syndrome 4A (Alpers type)", "neuronal Degeneration of childhood with liver disease, progressive", "progressive cerebral poliodystrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." }, "child_count": 0, "reference_id": "MONDO:0008758" }, { "id": 10035, "label": "Alstrom syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7000, 7611 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050473", "GARD:0005787", "ICD9:759.89", "MEDGEN:78675", "MESH:D056769", "MedDRA:10068783", "NCIT:C84549", "NORD:757", "OMIM:203800", "Orphanet:64", "SCTID:63702009", "UMLS:C0268425" ], "synonyms": [ "ALMS", "ALSS", "Alstrom syndrome", "Alstrom's syndrome", "Alström Syndrome", "Alström syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction." }, "child_count": 0, "reference_id": "MONDO:0008763" }, { "id": 10066, "label": "aniridia-cerebellar ataxia-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 12243 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111578", "GARD:0000013", "ICD9:759.89", "MEDGEN:96563", "MESH:C536370", "NORD:786", "OMIM:206700", "Orphanet:1065", "SCTID:253176002", "UMLS:C0431401" ], "synonyms": [ "Aniridia Cerebellar Ataxia Mental Deficiency", "GILLESPIE syndrome", "GLSP", "Gillespie syndrome", "aniridia, cerebellar ataxia and mental deficiency", "aniridia, cerebellar ataxia, and intellectual disability", "aniridia, cerebellar ataxia, and mental retardation" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0008795" }, { "id": 10067, "label": "aniridia-renal agenesis-psychomotor retardation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000690", "MEDGEN:347952", "MESH:C000598722", "OMIM:206750", "Orphanet:1064", "SCTID:733116005", "UMLS:C1859782" ], "synonyms": [ "Sommer-Rathbun-Battles syndrome", "Sommer Rathbun Battles syndrome", "aniridia partial with unilateral renal agenesis and psychomotor retardation", "aniridia renal agenesis psychomotor retardation", "aniridia, partial, with unilateral renal agenesis and psychomotor retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974." }, "child_count": 0, "reference_id": "MONDO:0008796" }, { "id": 10076, "label": "aplasia cutis congenita-intestinal lymphangiectasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6756, 19049, 19143 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000753", "MEDGEN:349241", "MESH:C537788", "OMIM:207731", "Orphanet:1116", "SCTID:720500008", "UMLS:C1859753" ], "synonyms": [ "Bronspiegel-Zelnick syndrome", "autosomal recessive aplasia cutis", "ACC with intestinal lymphangiectasia", "aplasia cutis congenita intestinal lymphangiectasia", "aplasia cutis congenita with intestinal lymphangiectasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985." }, "child_count": 0, "reference_id": "MONDO:0008808" }, { "id": 10091, "label": "fetal akinesia deformation sequence", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16089, 16094, 16618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111375", "GARD:0009634", "ICD9:754.89", "MESH:C536647", "NCIT:C129071", "OMIMPS:208150", "SCTID:401138005" ], "synonyms": [ "FADS", "fetal akinesia deformation sequence", "arthrogryposis multiplex congenita with pulmonary hypoplasia", "fetal akinesia sequence", "foetal akinesia sequence" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes." }, "child_count": 20, "reference_id": "MONDO:0008824" }, { "id": 10140, "label": "blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000905", "MEDGEN:347880", "MESH:C536235", "OMIM:210745", "Orphanet:2057", "SCTID:717914000", "UMLS:C1859432" ], "synonyms": [ "Frydman-Cohen-Karmon syndrome", "Frydman Cohen Karmon syndrome", "blepharophimosis - ptosis - esotropia - syndactyly - short stature", "blepharophimosis with ptosis, syndactyly, and short stature" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0008875" }, { "id": 10141, "label": "Bloom syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7217, 7611, 16625, 18950, 20044, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2717", "GARD:0000915", "ICD10CM:Q82.2", "ICD9:757.39", "MEDGEN:2685", "MESH:D001816", "NANDO:1200333", "NANDO:2200707", "NCIT:C2903", "NORD:863", "OMIM:210900", "Orphanet:125", "SCTID:4434006", "UMLS:C0005859", "icd11.foundation:1838213890" ], "synonyms": [ "BSyn", "Bloom syndrome", "Bloom-Torre-Machacek syndrome", "congenital telangiectatic erythema syndrome", "BLM", "BLS", "BS", "MGRISCE1", "congenital telangiectatic erythema", "growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability", "microcephaly, growth restriction, and increased sister chromatid exchange 1" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." }, "child_count": 0, "reference_id": "MONDO:0008876" }, { "id": 10150, "label": "Elsahy-Waters syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080631", "GARD:0000955", "MEDGEN:923028", "MESH:C537084", "MESH:C566373", "OMIM:211380", "OMIM:603463", "Orphanet:1299", "Orphanet:157788", "SCTID:719097002", "UMLS:C0809936" ], "synonyms": [ "BSG syndrome", "ELSAHY-Waters syndrome", "ESWS", "Elsahy-Waters syndrome", "brachioskeletogenital syndrome", "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss", "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss", "hypospadias-hypertelorism-coloboma and deafness syndrome", "branchio-skeleto-genital syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." }, "child_count": 0, "reference_id": "MONDO:0008885" }, { "id": 10161, "label": "campomelia, Cumming type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 19154, 19475 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001061", "MEDGEN:347864", "MESH:C537966", "OMIM:211890", "Orphanet:1318", "SCTID:720599002", "UMLS:C1859371", "icd11.foundation:152223075" ], "synonyms": [ "campomelia, Cumming type", "Cumming syndrome", "campomelia Cumming type", "campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys", "cervical lymphocele with bowed long bones" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." }, "child_count": 0, "reference_id": "MONDO:0008896" }, { "id": 10168, "label": "camptomelic syndrome, long-limb type", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001071", "MEDGEN:347129", "MESH:C537977", "OMIM:211990", "UMLS:C1859354" ], "synonyms": [ "camptomelic syndrome, long-limb type", "Camptomelic syndrome long limb type", "campomelic syndrome long limb type", "campomelic syndrome, long-limb type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0008904" }, { "id": 10187, "label": "congenital cataract-ichthyosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16624 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001145", "MEDGEN:347122", "MESH:C538281", "OMIM:212400", "Orphanet:1376", "UMLS:C1859315" ], "synonyms": [ "Syndermotic cataract and congenital ichthyosis", "cataract and congenital ichthyosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0008924" }, { "id": 10190, "label": "colobomatous optic disc-macular atrophy-chorioretinopathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080635", "GARD:0017719", "MEDGEN:894574", "MESH:C565876", "OMIM:212550", "Orphanet:435930", "UMLS:C4225424" ], "synonyms": [ "ODRMD", "optic DISC anomalies with retinal and/or macular dystrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity." }, "child_count": 0, "reference_id": "MONDO:0008927" }, { "id": 10202, "label": "hepatic fibrosis-renal cysts-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005177", "MEDGEN:347120", "MESH:C565867", "OMIM:213010", "Orphanet:2031", "UMLS:C1859300" ], "synonyms": [ "Thompson Baraitser syndrome", "Thompson-Baraitser syndrome", "cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987." }, "child_count": 0, "reference_id": "MONDO:0008941" }, { "id": 10218, "label": "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016786", "MEDGEN:348419", "OMIM:214370", "Orphanet:90103", "SCTID:715666007", "UMLS:C1861669" ], "synonyms": [ "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome", "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers", "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres", "Charcot-Marie-tooth disease-deafness-intellectual disability syndrome", "Charcot-Marie-Tooth disease and deafness", "deafness with Charcot-Marie-Tooth disease", "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers", "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibres", "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers", "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibres" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease." }, "child_count": 0, "reference_id": "MONDO:0008960" }, { "id": 10223, "label": "CHARGE syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16088, 16526, 20691, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050834", "GARD:0000029", "ICD9:759.89", "MEDGEN:75567", "MESH:D058747", "MedDRA:10064063", "NANDO:1200464", "NANDO:2200972", "NCIT:C75100", "NORD:920", "Orphanet:138", "SCTID:47535005", "UMLS:C0265354", "icd11.foundation:52086532" ], "synonyms": [ "CHARGE association", "CHARGE syndrome", "Hall-Hittner syndrome", "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association", "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association", "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome", "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies", "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." }, "child_count": 5, "reference_id": "MONDO:0008965" }, { "id": 10224, "label": "Aagenaes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6878, 19049 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6691", "GARD:0000370", "ICD9:576.8", "MEDGEN:78658", "MESH:C535330", "NCIT:C35709", "OMIM:214900", "Orphanet:1414", "SCTID:28724005", "UMLS:C0268314" ], "synonyms": [ "Aagenaes syndrome", "Chls", "LCS", "LCS1", "cholestasis lymphedema syndrome", "cholestasis-lymphedema syndrome", "lymphedema cholestasis syndrome", "lymphedema-cholestasis syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." }, "child_count": 0, "reference_id": "MONDO:0008966" }, { "id": 10239, "label": "infantile choroidocerebral calcification syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001313", "MEDGEN:395174", "MESH:C535357", "OMIM:215480", "Orphanet:1313", "SCTID:724228005", "UMLS:C1859092" ], "synonyms": [ "Choroido-cerebral calcification syndrome with retardation", "choroid plexus calcification and intellectual disability", "choroid plexus calcification and mental retardation", "choroid plexus calcification with intellectual disability", "choroid plexus calcification with mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities." }, "child_count": 0, "reference_id": "MONDO:0008981" }, { "id": 10252, "label": "Yunis-Varon syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060589", "GARD:0000331", "MEDGEN:341818", "MESH:C536719", "NORD:1875", "OMIM:216340", "Orphanet:3472", "UMLS:C1857663", "icd11.foundation:1696991249" ], "synonyms": [ "Yunis Varon Syndrome", "Yunis Varon syndrome", "Yunis-Varon syndrome", "Yunis-Varón syndrome", "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia", "cleidocranial dysplasia-micrognathia-absent thumbs syndrome", "YVS", "cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person." }, "child_count": 0, "reference_id": "MONDO:0008995" }, { "id": 10268, "label": "corneal dystrophy-perceptive deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111620", "GARD:0001529", "MEDGEN:387858", "MESH:C535473", "OMIM:217400", "Orphanet:1490", "SCTID:720749004", "UMLS:C1857572" ], "synonyms": [ "CDPD", "Harboyan syndrome", "corneal dystrophy with progressive deafness", "Cdpd1", "congenital corneal dystrophy, progressive sensorineural deafness", "corneal dystrophy and perceptive deafness", "corneal dystrophy and sensorineural deafness" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss." }, "child_count": 0, "reference_id": "MONDO:0009015" }, { "id": 10276, "label": "cortical blindness-intellectual disability-polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001548", "MEDGEN:347487", "MESH:C565674", "OMIM:218010", "Orphanet:1389", "UMLS:C1857568" ], "synonyms": [ "cortical blindness, retardation, and postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly." }, "child_count": 0, "reference_id": "MONDO:0009024" }, { "id": 10295, "label": "Crigler-Najjar syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4498 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3803", "GARD:0016526", "ICD10CM:E80.5", "MEDGEN:1789261", "MESH:D003414", "MedDRA:10011386", "NANDO:2100272", "NANDO:2200941", "NCIT:C84656", "NORD:1016", "Orphanet:205", "SCTID:28259009", "UMLS:C5551003", "icd11.foundation:291439191" ], "synonyms": [ "Crigler Najjar Syndrome", "Crigler-Najjar syndrome", "UGT deficiency", "bilirubin UDP glucuronyl transferase deficiency", "bilirubin uridinediphosphate glucuronosyltransferase deficiency", "bilirubin-UGT deficiency", "hereditary unconjugated hyperbilirubinemia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." }, "child_count": 4, "reference_id": "MONDO:0009044" }, { "id": 10296, "label": "cataract-nephropathy-encephalopathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001614", "MEDGEN:167082", "MESH:C536216", "OMIM:218900", "Orphanet:1380", "SCTID:722381004", "UMLS:C0795914" ], "synonyms": [ "crome syndrome", "congenital cataracts, renal tubular necrosis and encephalopathy in two sisters" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." }, "child_count": 0, "reference_id": "MONDO:0009045" }, { "id": 10297, "label": "Fraser syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611, 16089, 19754 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090001", "GARD:0006465", "MEDGEN:82692", "MESH:D058497", "NCIT:C118436", "NORD:1160", "OMIMPS:219000", "Orphanet:2052", "SCTID:204102004", "UMLS:C0265233", "icd11.foundation:968262849" ], "synonyms": [ "Fraser syndrome", "cryptophthalmos-syndactyly syndrome", "Fraser-Francois syndrome", "Meyer-Schwickerath's syndrome", "Ulrich-Feichtiger syndrome", "cryptophthalmos syndrome", "cryptophthalmos with Other malformations", "cyclopism" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly." }, "child_count": 12, "reference_id": "MONDO:0009046" }, { "id": 10313, "label": "cystic fibrosis-gastritis-megaloblastic anemia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 10312 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003303", "MEDGEN:812585", "MESH:C537039", "OMIM:219721", "Orphanet:2575", "SCTID:720401009", "UMLS:C3806255" ], "synonyms": [ "Lubani-Al Saleh-Teebi syndrome", "Lubani Al Saleh Teebi syndrome", "cystic fibrosis gastritis megaloblastic anaemia", "cystic fibrosis gastritis megaloblastic anemia", "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability", "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation", "cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991." }, "child_count": 0, "reference_id": "MONDO:0009062" }, { "id": 10317, "label": "cystinuria", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16626, 19084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9266", "GARD:0006237", "HP:0003131", "ICD10CM:E72.01", "MEDGEN:8226", "MESH:D003555", "MedDRA:10011778", "NANDO:2200489", "NCIT:C84664", "OMIM:220100", "Orphanet:214", "SCTID:85020001", "UMLS:C0010691", "icd11.foundation:1237620397" ], "synonyms": [ "cystinuria", "cystinuria (disease)", "cystinuria-lysinuria syndrome", "CSNU", "cystinuria, type A/B", "cystinuria, type B", "cystinuria, type I", "cystinuria, type I, formerly", "cystinuria, type II", "cystinuria, type II, formerly", "cystinuria, type III", "cystinuria, type III, formerly", "cystinuria, type a", "cystinuria, type non-I", "cystinuria, type non-I, formerly", "cystinuria-lysinuria" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." }, "child_count": 6, "reference_id": "MONDO:0009067" }, { "id": 10327, "label": "DOORS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111627", "GARD:0001685", "MEDGEN:208648", "MESH:C563052", "NORD:1058", "OMIM:220500", "Orphanet:79500", "SCTID:719800009", "UMLS:C0795934" ], "synonyms": [ "DOORS syndrome", "autosomal recessive deafness-onychodystrophy syndrome", "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome", "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome", "deafness-onychoosteodystrophy-intellectual disability syndrome", "door syndrome", "DOORS", "Digitorenocerebral syndrome", "Eronen syndrome", "brachydactyly due to absence of distal phalanges", "deafness onychodystrophy osteodystrophy and intellectual disability syndrome", "deafness onychodystrophy osteodystrophy and mental retardation syndrome", "deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome", "deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome", "drc syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." }, "child_count": 0, "reference_id": "MONDO:0009079" }, { "id": 10330, "label": "high myopia-sensorineural deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111628", "GARD:0012844", "MEDGEN:812605", "OMIM:221200", "Orphanet:363396", "SCTID:720506002", "UMLS:C3806275" ], "synonyms": [ "high myopia-sensorineural deafness syndrome", "DFNMYP", "deafness and myopia", "deafness and myopia syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations." }, "child_count": 0, "reference_id": "MONDO:0009082" }, { "id": 10342, "label": "dermochondrocorneal dystrophy", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20387 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001815", "ICD9:379.99", "MEDGEN:98151", "MESH:C535375", "OMIM:221800", "Orphanet:79149", "SCTID:254150007", "UMLS:C0432288", "icd11.foundation:1305138145" ], "synonyms": [ "FranC'ois syndrome", "François syndrome", "dermochondrocorneal dystrophy", "DCCD", "Dermochondrocorneal dystrophy of François", "Francois syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009094" }, { "id": 10346, "label": "nephrogenic diabetes insipidus-intracranial calcification syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16626 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000259", "MEDGEN:387791", "OMIM:221995", "Orphanet:3145", "SCTID:716200002", "UMLS:C1857297" ], "synonyms": [ "Schofer-Beetz-Bohl syndrome", "Schofer Beetz Bohl syndrome", "diabetes insipidus nephrogenic intellectual disability and intracerebral calcification", "diabetes insipidus nephrogenic mental retardation and intracerebral calcification", "diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification", "diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009099" }, { "id": 10365, "label": "diverticulosis of bowel, hernia, and retinal detachment", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6151 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003401", "MEDGEN:341729", "MESH:C565619", "OMIM:223330", "Orphanet:2464", "UMLS:C1857227" ], "synonyms": [ "diverticulosis of bowel, hernia, and retinal detachment", "marfanoid syndrome, De Silva type", "Marphanoid syndrome type De Silva" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions." }, "child_count": 0, "reference_id": "MONDO:0009120" }, { "id": 10374, "label": "Dyggve-Melchior-Clausen disease", "isLeaf": false, "isRoot": false, "parents": [ 4370, 17206 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111167", "GARD:0006295", "MEDGEN:120527", "NCIT:C124844", "NORD:1068", "OMIM:223800", "Orphanet:239", "SCTID:82699004", "UMLS:C0265286", "icd11.foundation:21266164" ], "synonyms": [ "Dyggve Melchior Clausen syndrome", "Dyggve-Melchior-Clausen disease", "Dyggve-Melchior-Clausen syndrome", "DMC", "DMC syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias." }, "child_count": 2, "reference_id": "MONDO:0009130" }, { "id": 10377, "label": "cerebellar ataxia, intellectual disability, and dysequilibrium", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19711 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050997", "GARD:0001998", "MEDGEN:98295", "MESH:C535731", "MedDRA:10013140", "NCIT:C114781", "OMIMPS:224050", "Orphanet:1766", "SCTID:230782004", "UMLS:C0394006" ], "synonyms": [ "CAMRQ syndrome", "cerebellar ataxia, mental retardation and dysequlibrium syndrome", "cerebellar ataxia, mental retardation, and dysequilibrium", "cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome", "dialysis dysequilibrium syndrome", "dysequilibrium syndrome", "non-progressive cerebellar ataxia-intellectual disability syndrome", "DES", "VLDLRCH", "cerebellar disorder, nonprogressive, with mental retardation", "cerebellar hypoplasia, VLDLR associated" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia." }, "child_count": 8, "reference_id": "MONDO:0009133" }, { "id": 10400, "label": "ectrodactyly-polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002068", "MEDGEN:384042", "MESH:C565601", "OMIM:225290", "Orphanet:1892", "UMLS:C1857040" ], "synonyms": [ "ectrodactyly polydactyly", "ectrodactyly-polydactyly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982." }, "child_count": 0, "reference_id": "MONDO:0009156" }, { "id": 10410, "label": "Bonnemann-Meinecke-Reich syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 23939 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002113", "MEDGEN:346482", "MESH:C565594", "OMIM:225755", "Orphanet:1261", "SCTID:733049004", "UMLS:C1856973" ], "synonyms": [ "encephalopathy-intracerebral calcification-retinal degeneration syndrome", "Bonnemann Meinecke Reich syndrome", "encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration", "encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." }, "child_count": 0, "reference_id": "MONDO:0009167" }, { "id": 10424, "label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16084, 16784, 17887, 29296 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090017", "GARD:0002137", "MEDGEN:418981", "MESH:C535955", "NANDO:2201376", "OMIM:226670", "Orphanet:257", "SCTID:723308003", "UMLS:C2931072" ], "synonyms": [ "EBS-MD", "epidermolysis bullosa simplex 5B, with muscular dystrophy", "epidermolysis bullosa simplex and limb-girdle muscular dystrophy", "epidermolysis bullosa simplex with muscular dystrophy", "limb-girdle muscular dystrophy with epidermolysis bullosa simplex", "EBSMD", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysa bullosa simplex with muscular dystrophy", "MD-EBS", "MDEBS", "epidermolysis bullosa simplex - limb girdle muscular dystrophy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy." }, "child_count": 0, "reference_id": "MONDO:0009181" }, { "id": 10435, "label": "Wolcott-Rallison syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 17206 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090060", "GARD:0005589", "MEDGEN:140926", "MESH:C536739", "NCIT:C131007", "OMIM:226980", "Orphanet:1667", "SCTID:254066006", "UMLS:C0432217", "icd11.foundation:2096915129" ], "synonyms": [ "WRS", "Wolcott-Rallison syndrome", "early-onset diabetes mellitus with multiple epiphyseal dysplasia", "IDDM-MED syndrome", "Iddm-Med syndrome", "MED-IDDM syndrome", "Med-Iddm syndrome", "Wolcott Rallison syndrome", "epiphyseal dysplasia multiple with early-onset diabetes mellitus", "epiphyseal dysplasia, multiple, with early-onset diabetes mellitus" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." }, "child_count": 0, "reference_id": "MONDO:0009192" }, { "id": 10439, "label": "ermine phenotype", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000407", "ICD9:270.2", "MEDGEN:346466", "MESH:C535508", "MESH:C562663", "OMIM:227010", "Orphanet:999", "SCTID:10170007", "UMLS:C1856899", "icd11.foundation:2048725507" ], "synonyms": [ "O'Doherty syndrome", "ermine phenotype", "pigmentary disorder with hearing loss", "BADS", "BADS syndrome", "black locks with albinism and deafness syndrome", "black locks, oculocutaneous albinism, and deafness of the sensorineural type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging." }, "child_count": 0, "reference_id": "MONDO:0009196" }, { "id": 10443, "label": "eyebrow duplication-syndactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002216", "MEDGEN:347327", "MESH:C536383", "OMIM:227210", "Orphanet:3172", "UMLS:C1856896" ], "synonyms": [ "eyebrows duplication of, with stretchable skin and syndactyly", "eyebrows, DUPLICATION of, with stretchable skin and syndactyly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009200" }, { "id": 10460, "label": "Fanconi-like syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090066", "MEDGEN:56237", "MESH:C536855", "OMIM:227850", "SCTID:236469003", "UMLS:C0151638" ], "synonyms": [ "Fanconi-like syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies." }, "child_count": 2, "reference_id": "MONDO:0009217" }, { "id": 10471, "label": "gingival fibromatosis-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010528", "MEDGEN:346437", "MESH:C565567", "OMIM:228560", "Orphanet:2025", "UMLS:C1856761" ], "synonyms": [ "fibromatosis, gingival, with distinctive facies", "gingival fibromatosis with craniofacial dysmorphism", "gingival fibromatosis with distinctive facies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009228" }, { "id": 10489, "label": "frontofacionasal dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 17114 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002390", "MEDGEN:444125", "MESH:C538063", "NORD:1164", "OMIM:229400", "Orphanet:1791", "SCTID:716022002", "UMLS:C2931720" ], "synonyms": [ "Gollop syndrome", "frontofacionasal dysplasia", "Ffnd", "Frontofacionasal dysostosis", "fronto-facio-nasal dyplasia", "fronto-facio-nasal dysostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." }, "child_count": 0, "reference_id": "MONDO:0009247" }, { "id": 10494, "label": "Fryns syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003699", "ICD9:759.89", "MEDGEN:65088", "MESH:C538070", "NCIT:C98932", "NORD:1167", "OMIM:229850", "Orphanet:2059", "SCTID:702432006", "UMLS:C0220730", "icd11.foundation:1327847749" ], "synonyms": [ "Fryns syndrome", "diaphragmatic hernia-abnormal face-distal limb anomalies syndrome", "FRNS", "Moerman Van den Berghe Fryns syndrome", "diaphragmatic hernia, abnormal face, and distal limb anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations." }, "child_count": 0, "reference_id": "MONDO:0009253" }, { "id": 10513, "label": "German syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16651, 19049 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:854357", "MESH:C562543", "OMIM:231080", "Orphanet:2077", "SCTID:733037000", "UMLS:C3887495" ], "synonyms": [ "German syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." }, "child_count": 0, "reference_id": "MONDO:0009272" }, { "id": 10517, "label": "Bernard-Soulier syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2702, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2217", "GARD:0002470", "MEDGEN:2212", "MESH:D001606", "MedDRA:10057473", "NANDO:2200656", "NCIT:C84595", "NORD:851", "OMIM:231200", "Orphanet:274", "SCTID:234478007", "UMLS:C0005129", "icd11.foundation:507309898" ], "synonyms": [ "Bernard-Soulier syndrome", "Bernard-Soulier syndrome, type A1 (recessive)", "Hemorrhagiparous thrombocytic dystrophy", "giant platelet disorder, isolated", "giant platelet syndrome", "BSS", "Bernard-Soulier syndrome, type A1", "Bernard-Soulier syndrome, type B", "Bernard-Soulier syndrome, type C", "Platelet glycoprotein 1b, deficiency of", "Platelet glycoprotein Ib deficiency", "Von Willebrand Factor receptor deficiency", "bleeding disorder, Platelet-type, 1", "deficiency of platelet glycoprotein 1b", "giant platelet disease", "glycoprotein Ib, Platelet, deficiency of", "macrothrombocytopenia, familial Bernard-Soulier type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination." }, "child_count": 2, "reference_id": "MONDO:0009276" }, { "id": 10519, "label": "triple-A syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 16074 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050602", "GARD:0000457", "ICD9:255.41", "MEDGEN:82889", "MESH:C536008", "NANDO:1200410", "NCIT:C131005", "OMIM:231550", "Orphanet:869", "SCTID:45414006", "UMLS:C0271742" ], "synonyms": [ "2A syndrome", "3A syndrome", "4A syndrome", "AAA syndrome", "Allgrove syndrome", "Double A syndrome", "achalasia-addisonianism-alacrima syndrome", "adrenal insufficiency-achalasia-alacrima syndrome", "quaternary A syndrome", "triple-a syndrome", "AAA", "AAAS", "ACTH-resistant adrenal insufficiency, achalasia and alacrima", "Addisonian achalasia syndrome", "Addisonian-achalasia syndrome", "achalasia addisonianism alacrimia syndrome", "achalasia alacrima syndrome", "achalasia-alacrima syndrome", "alacrima-achalasia-addisonianism", "alacrima-achalasia-adrenal insufficiency neurologic disorder", "glucocorticoid deficiency and achalasia", "hypoadrenalism with achalasia", "triple A syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." }, "child_count": 0, "reference_id": "MONDO:0009279" }, { "id": 10551, "label": "Grubben-de Cock-Borghgraef syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002576", "MEDGEN:419108", "MESH:C537621", "OMIM:233810", "Orphanet:2101", "UMLS:C2931551" ], "synonyms": [ "developmental delay-hypotonia-extremities hypertrophy syndrome", "Grubben de Cock Borghgraef syndrome", "developmental delay - hypotonia - extremities hypertrophy", "growth retardation, small and puffy hands and feet, and eczema", "severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients." }, "child_count": 0, "reference_id": "MONDO:0009313" }, { "id": 10565, "label": "mullerian derivatives-lymphangiectasia-polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005430", "MEDGEN:343489", "MESH:C536478", "OMIM:235255", "Orphanet:1655", "UMLS:C1856159" ], "synonyms": [ "MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly", "Müllerian derivatives-lymphangiectasia-polydactyly syndrome", "Urioste syndrome", "persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly", "renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure." }, "child_count": 0, "reference_id": "MONDO:0009333" }, { "id": 10574, "label": "Hirschsprung disease-hearing loss-polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 20415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000157", "MEDGEN:341066", "MESH:C565518", "OMIM:235740", "Orphanet:2155", "SCTID:721221000", "UMLS:C1856112" ], "synonyms": [ "Santos-Mateus-Leal syndrome", "Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness", "Hirschsprung disease with polydactyly, renal agenesis, and deafness", "Hirschsprung disease, deafness and polydactyly", "Hirschsprung disease-deafness-polydactyly syndrome", "Santos Mateus Leal syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988." }, "child_count": 0, "reference_id": "MONDO:0009342" }, { "id": 10576, "label": "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000584", "MEDGEN:344653", "MESH:C535615", "OMIM:235760", "Orphanet:2153", "SCTID:721223002", "UMLS:C1856110" ], "synonyms": [ "Al Gazali-Donnai-Muller syndrome", "Al-Gazali-Donnai-Mueller syndrome", "Hirschsprung disease with hypoplastic nails and dysmorphic facial features", "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988." }, "child_count": 0, "reference_id": "MONDO:0009344" }, { "id": 10582, "label": "Holzgreve-Wagner-Rehder syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060566", "GARD:0002728", "MEDGEN:344650", "MESH:C535327", "OMIM:236110", "Orphanet:2167", "UMLS:C1856095" ], "synonyms": [ "Holzgreve syndrome", "cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome", "Complex congenital heart defect, renal agenesis and cleft lip and palate" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." }, "child_count": 0, "reference_id": "MONDO:0009350" }, { "id": 10591, "label": "multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 23110 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080327", "GARD:0017922", "MEDGEN:343465", "MESH:C565507", "OMIM:236500", "Orphanet:500135", "UMLS:C1856053" ], "synonyms": [ "MARCH syndrome", "hydranencephaly with renal aplasia-dysplasia", "MARCH", "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly", "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0009359" }, { "id": 10594, "label": "growth delay-hydrocephaly-lung hypoplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002427", "MEDGEN:344639", "MESH:C535406", "OMIM:236640", "Orphanet:3035", "SCTID:716198008", "UMLS:C1856052" ], "synonyms": [ "game-Friedman-Paradice syndrome", "game Friedman Paradice syndrome", "hydrocephalus with associated malformations", "retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." }, "child_count": 0, "reference_id": "MONDO:0009362" }, { "id": 10612, "label": "Dubin-Johnson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4498 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12308", "GARD:0002793", "MEDGEN:7181", "MESH:D007566", "MedDRA:10013800", "NCIT:C34741", "NORD:1063", "OMIM:237500", "Orphanet:234", "SCTID:44553005", "UMLS:C0022350", "icd11.foundation:1691610999" ], "synonyms": [ "Dubin Johnson Syndrome", "Dubin-Johnson syndrome", "Dubin-Sprinz disease", "Sprinz-Nelson syndrome", "chronic idiopathic jaundice", "hyperbilirubinemia type 2", "DJS", "conjugated hyperbilirubinemia", "hyperbilirubinemia 2", "hyperbilirubinemia, Dubin-Johnson type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." }, "child_count": 0, "reference_id": "MONDO:0009380" }, { "id": 10625, "label": "ornithine translocase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24857 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050720", "GARD:0002830", "MEDGEN:82815", "MESH:C538380", "NANDO:2200485", "NCIT:C129029", "OMIM:238970", "Orphanet:415", "SCTID:30287008", "UMLS:C0268540" ], "synonyms": [ "HHH syndrome", "ORNT1 deficiency", "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome", "ornithine carrier deficiency", "ornithine translocase deficiency", "triple H syndrome", "HHH", "HHHS", "Hhh syndrome", "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "ornithine translocase deficiency syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction." }, "child_count": 0, "reference_id": "MONDO:0009393" }, { "id": 10634, "label": "acrofrontofacionasal dysostosis 2", "isLeaf": true, "isRoot": false, "parents": [ 4370, 9988, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000287", "MEDGEN:383797", "MESH:C538332", "OMIM:239710", "Orphanet:2211", "SCTID:721835008", "UMLS:C1855904" ], "synonyms": [ "Naguib-Richieri-Costa syndrome", "acrofrontofacionasal dysostosis 2", "acrofrontofacionasal dysostosis type 2", "acrofrontofacionasal syndrome type 2", "hypertelorism-hypospadias-polysyndactyly syndrome", "AFFN dysostosis 2", "Naguib syndrome", "acrofrontofacionasal dysostosis with genitourinary anomalies", "acrofrontofacionasal dysostosis, severe", "hypertelorism hypospadias polysyndactyly syndrome", "hypertelorism, hypospadias, and polysyndactyly syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." }, "child_count": 0, "reference_id": "MONDO:0009402" }, { "id": 10638, "label": "hypertrichotic osteochondrodysplasia Cantu type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7171, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060569", "GARD:0008585", "MEDGEN:208647", "MESH:C535572", "OMIM:239850", "Orphanet:1517", "SCTID:239087008", "UMLS:C0795905" ], "synonyms": [ "Cantu syndrome", "hypertrichotic osteochondrodysplasia (Cantu syndrome)", "Craniofaciocardioskeletal syndrome", "hypertrichotic osteochondrodysplasia", "hypertrichotic osteochondrodysplasia, Cantu type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009406" }, { "id": 10648, "label": "hypergonadotropic hypogonadism-cataract syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000298", "MEDGEN:344596", "MESH:C543092", "OMIM:240950", "Orphanet:2410", "SCTID:721233005", "UMLS:C1855859" ], "synonyms": [ "Lubinsky syndrome", "cataracts and testicular failure", "hypogonadism cataract syndrome", "hypogonadism-cataract syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." }, "child_count": 0, "reference_id": "MONDO:0009417" }, { "id": 10651, "label": "primary hypergonadotropic hypogonadism-partial alopecia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016588", "MEDGEN:388650", "MESH:C567109", "OMIM:241090", "Orphanet:2232", "SCTID:719275009", "UMLS:C2673480" ], "synonyms": [ "Al Awadi-Farag-Teebi syndrome", "hypergonadotropic hypogonadism and partial alopecia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia." }, "child_count": 0, "reference_id": "MONDO:0009420" }, { "id": 10657, "label": "hypoparathyroidism-retardation-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 16087, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060348", "GARD:0000411", "MEDGEN:340984", "MESH:C537157", "NCIT:C133727", "OMIM:241410", "Orphanet:2323", "UMLS:C1855840" ], "synonyms": [ "HRD syndrome", "HRDS", "Richardson-Kirk syndrome", "SSS", "Sanjad-Sakati syndrome", "hypoparathyroidism with short stature, intellectual disability and seizures", "hypoparathyroidism-intellectual disability-dysmorphism syndrome", "hypoparathyroidism-retardation-dysmorphism syndrome", "hypoparathyroidism-short stature-intellectual disability-seizures syndrome", "HRD", "hypoparathyroidism with short stature, intellectual disability, and seizures", "hypoparathyroidism with short stature, mental retardation, and seizures", "hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay", "hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features." }, "child_count": 0, "reference_id": "MONDO:0009426" }, { "id": 10664, "label": "hypospadias-intellectual disability, Goldblatt type syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002928", "MEDGEN:162896", "MESH:C563067", "OMIM:241760", "Orphanet:2261", "SCTID:716096005", "UMLS:C0795989" ], "synonyms": [ "Goldblatt-Wallis syndrome", "Goldblatt Wallis syndrome", "hypospadias intellectual deficit Goldblatt type", "hypospadias intellectual disability Goldblatt type", "hypospadias intellectual disability syndrome", "hypospadias mental retardation Goldblatt type", "hypospadias mental retardation syndrome", "hypospadias-intellectual disability syndrome", "hypospadias-mental retardation syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." }, "child_count": 0, "reference_id": "MONDO:0009435" }, { "id": 10666, "label": "Bamforth-Lazarus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050655", "GARD:0000414", "MEDGEN:343420", "MESH:C537901", "OMIM:241850", "Orphanet:1226", "SCTID:722375007", "UMLS:C1855794", "icd11.foundation:1747690671" ], "synonyms": [ "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome", "Bamforth syndrome", "Bamforth-Lazarus syndrome", "hypothyroidism-cleft palate syndrome", "hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate", "hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." }, "child_count": 0, "reference_id": "MONDO:0009437" }, { "id": 10674, "label": "ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24045 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001993", "ICD9:571.8", "MEDGEN:266150", "MESH:C535727", "OMIM:242520", "Orphanet:2274", "SCTID:403779009", "UMLS:C1275088" ], "synonyms": [ "Dykes-Markes-Harper syndrome", "Dykes-Marks-Harper syndrome", "Dykes Markes Harper syndrome", "ichthyosis, hepatosplenomegaly, and cerebellar degeneration" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked." }, "child_count": 0, "reference_id": "MONDO:0009445" }, { "id": 10675, "label": "ichthyosis-intellectual disability-dwarfism-renal impairment syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004641", "MEDGEN:340966", "MESH:C536274", "OMIM:242530", "Orphanet:2278", "UMLS:C1855787" ], "synonyms": [ "Passwell-Goodman-Siprkowski syndrome", "ichthyosis intellectual deficit dwarfism renal impairment", "ichthyosis, intellectual disability, dwarfism and renal impairment", "ichthyosis, intellectual disability, dwarfism, and renal impairment", "ichthyosis, mental retardation, dwarfism and renal impairment", "ichthyosis, mental retardation, dwarfism, and renal impairment" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009446" }, { "id": 10681, "label": "Vici syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6778, 7611, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060356", "GARD:0000448", "MEDGEN:340962", "MESH:C535566", "NCIT:C138174", "OMIM:242840", "Orphanet:1493", "SCTID:719824001", "UMLS:C1855772" ], "synonyms": [ "Dionisi-Vici-Sabetta-Gambarara syndrome", "Vici syndrome", "absent corpus callosum-cataract-immunodeficiency syndrome", "corpus callosum agenesis-cataract-immunodeficiency syndrome", "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum", "Dionisi Vici Sabetta Gambarara syndrome", "VICIS", "absent corpus callosum cataract immunodeficiency", "immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum", "immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." }, "child_count": 0, "reference_id": "MONDO:0009452" }, { "id": 10686, "label": "channelopathy-associated congenital insensitivity to pain, autosomal recessive", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012267", "MEDGEN:344563", "OMIM:243000", "Orphanet:88642", "UMLS:C1855739" ], "synonyms": [ "channelopathy-associated CIP", "insensitivity to pain, congenital", "neuropathy, hereditary sensory and autonomic, type IID", "CIP", "HSAN2D", "HSAN2D, AR", "asymbolia for pain", "congenital analgesia, autosomal recessive", "indifference to pain, congenital, autosomal recessive", "insensitivity to pain, channelopathy-associated", "neuropathy, hereditary sensory and autonomic, type 2D" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)" }, "child_count": 0, "reference_id": "MONDO:0009459" }, { "id": 10706, "label": "Joubert syndrome with oculorenal defect", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16225, 19709, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009455", "MEDGEN:340930", "MESH:C537430", "NANDO:1200662", "OMIM:243910", "Orphanet:2318", "SCTID:721862000", "UMLS:C1855675", "icd11.foundation:397835469" ], "synonyms": [ "Arima syndrome", "CORS", "Cerebellooculorenal syndrome", "Dekaban-Arima syndrome", "JS type B", "JS-OR", "Joubert syndrome with Senior-Loken syndrome", "Joubert syndrome with oculorenal defect", "Dekaban Arima syndrome", "Joubert syndrome 5", "Joubert syndrome with bilateral chorioretinal coloboma", "Joubert syndrome with oculorenal anomalies", "cerebello-oculo-renal syndrome", "cerebro-oculo-hepato-renal syndrome", "cerebrooculohepatorenal syndrome", "chorioretinal coloboma with cerebellar vermis aplasia", "coloboma, chorioretinal, with cerebellar vermis aplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease." }, "child_count": 20, "reference_id": "MONDO:0009480" }, { "id": 10711, "label": "oculocerebrofacial syndrome, Kaufman type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111456", "GARD:0003084", "MEDGEN:343403", "MESH:C537013", "OMIM:244450", "Orphanet:2707", "SCTID:722056009", "UMLS:C1855663" ], "synonyms": [ "BPIDS", "blepharophimosis-ptosis-intellectual disability syndrome", "oculocerebrofacial syndrome, Kaufman type", "KOS", "Kaufman oculocerebrofacial syndrome", "kos", "severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet", "severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0009485" }, { "id": 10734, "label": "Landau-Kleffner syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19725, 29313 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2538", "EFO:1001010", "GARD:0006855", "MEDGEN:79465", "MESH:D018887", "MedDRA:10052075", "MedDRA:10052083", "NANDO:1200602", "NCIT:C84806", "Orphanet:98818", "SCTID:230438007", "UMLS:C0282512", "icd11.foundation:348544271" ], "synonyms": [ "LKS", "Landau-Kleffner syndrome", "acquired epileptic aphasia", "FESD", "Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant", "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant", "acquired aphasia with convulsive disorder", "acquired epileptiform aphasia", "aphasia, acquired, with epilepsy", "benign epilepsy of childhood with centrotemporal spikes", "continuous Spike and waves during slow-Wave sleep syndrome", "epilepsy, focal, with speech disorder and with or without impaired intellectual development", "epilepsy, focal, with speech disorder and with or without intellectual disability", "epilepsy, focal, with speech disorder and with or without mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare form of epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) characterized by various combinations of acquired cognitive, language, behavioral, and motor deficits associated with marked spike- and- wave activation in sleep. In Landau-Kleffner syndrome, receptive language is mainly affected, with an acquired auditory verbal agnosia." }, "child_count": 0, "reference_id": "MONDO:0009509" }, { "id": 10737, "label": "laryngo-onycho-cutaneous syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6815, 17889 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000368", "MEDGEN:272227", "MESH:C537032", "OMIM:245660", "Orphanet:2407", "SCTID:722675000", "UMLS:C1328355" ], "synonyms": [ "LOC syndrome", "Shabbir syndrome", "laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome", "laryngo-onycho-cutaneous syndrome", "logic syndrome", "LARYNGOONYCHOCUTANEOUS syndrome", "LOCS" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." }, "child_count": 0, "reference_id": "MONDO:0009513" }, { "id": 10738, "label": "Laurence-Moon syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 16087, 16526 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1930", "GARD:0012635", "ICD9:253.4", "MEDGEN:44078", "MESH:D007849", "MedDRA:10056710", "NCIT:C34760", "NORD:1932", "OMIM:245800", "Orphanet:2377", "SCTID:232059000", "UMLS:C0023138", "icd11.foundation:458834940" ], "synonyms": [ "LMS", "Laurence-Moon syndrome", "LNMS", "Laurence-MOON syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy." }, "child_count": 0, "reference_id": "MONDO:0009514" }, { "id": 10741, "label": "Donohue syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050470", "GARD:0006885", "ICD9:259.8", "MEDGEN:82708", "MESH:D056731", "NCIT:C84676", "NORD:1361", "OMIM:246200", "Orphanet:508", "SCTID:111307005", "UMLS:C0265344" ], "synonyms": [ "Donohue syndrome", "Leprechaunism", "leprechaunism", "insulin receptor, defect 1N" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation." }, "child_count": 0, "reference_id": "MONDO:0009517" }, { "id": 10755, "label": "Miller-Dieker lissencephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16079, 20965 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:21", "DOID:0060469", "GARD:0003669", "ICD9:758.33", "MEDGEN:78538", "MedDRA:10068361", "NANDO:1201083", "NCIT:C124852", "OMIM:247200", "Orphanet:531", "SCTID:253148005", "UMLS:C0265219" ], "synonyms": [ "Miller-Dieker lissencephaly syndrome", "Miller-Dieker syndrome", "lissencephaly due to 17p13.3 deletion", "monosomy 17p13.3", "telomeric deletion 17p", "MDLS", "Miller-Dieker syndrome chromosome region", "chromosome 17P13.3 deletion syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip." }, "child_count": 0, "reference_id": "MONDO:0009532" }, { "id": 10788, "label": "Marinesco-Sjogren syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19713 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080195", "GARD:0008341", "ICD9:742.4", "MEDGEN:6222", "NANDO:1200485", "NORD:1406", "OMIM:248800", "Orphanet:559", "SCTID:80734006", "UMLS:C0024814" ], "synonyms": [ "MSS", "Marinesco-Sjogren syndrome", "Marshall Smith Syndrome", "Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism", "Marinesco-Sjogren syndrome-myopathy", "Marinesco-Sjogren-Garland syndrome", "Marinesco-Sjögren syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development." }, "child_count": 0, "reference_id": "MONDO:0009567" }, { "id": 10800, "label": "Frank-Ter Haar syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19470 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111789", "GARD:0005138", "MEDGEN:383652", "MESH:C536577", "MESH:C537274", "OMIM:211170", "OMIM:249420", "Orphanet:137834", "SCTID:720958002", "UMLS:C1855305", "icd11.foundation:1643548765" ], "synonyms": [ "Borrone Dermatocardioskeletal syndrome", "Borrone di Rocco Crovato syndrome", "Frank-Ter Haar syndrome", "Ter Haar syndrome", "Borrone dermatocardioskeletal syndrome", "FRANK-TER Haar syndrome", "FTHS", "Frank Ter Haar syndrome", "Melnick-Needles syndrome, autosomal recessive", "Melnick-Needles syndrome, autosomal recessive, formerly", "autosomal recessive Melnick-Needles syndrome (formerly)", "megalocornea, multiple skeletal anomalies, and developmental delay" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay." }, "child_count": 0, "reference_id": "MONDO:0009579" }, { "id": 10803, "label": "Mietens syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061196", "GARD:0003524", "ICD9:759.89", "MEDGEN:82695", "MESH:C537444", "OMIM:249600", "Orphanet:2557", "SCTID:40291001", "UMLS:C0265249", "icd11.foundation:1399358623" ], "synonyms": [ "intellectual disability, Mietens-Weber type", "Mietens-Weber syndrome", "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability", "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation", "intellectual disability syndrome, Mietens Weber type", "intellectual disability syndrome, Mietens-WEBER type", "mental retardation syndrome, Mietens Weber type", "mental retardation syndrome, Mietens-WEBER type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." }, "child_count": 0, "reference_id": "MONDO:0009582" }, { "id": 10809, "label": "mesomelic dwarfism-cleft palate-camptodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003552", "MEDGEN:340833", "MESH:C565404", "OMIM:249710", "Orphanet:2631", "SCTID:715471007", "UMLS:C1855273" ], "synonyms": [ "Reardon-Hall-Slaney syndrome", "mesomelic dysplasia, Kozlowski-Reardon type", "mesomelic dysplasia, Reardon type", "mesomelic dwarfism cleft palate camptodactyly", "mesomelic limb shortening and bowing" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009589" }, { "id": 10818, "label": "metaphyseal chondrodysplasia-retinitis pigmentosa syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7171 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017017", "MEDGEN:381579", "MESH:C565398", "OMIM:250410", "Orphanet:166035", "UMLS:C1855188" ], "synonyms": [ "RPSKA", "brachydactyly-short stature-retinitis pigmentosa syndrome", "metaphyseal chondrodysplasia with retinitis pigmentosa", "retinitis pigmentosa with or without skeletal anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0009598" }, { "id": 10819, "label": "metaphyseal dysostosis-intellectual disability-conductive deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003566", "MEDGEN:344437", "MESH:C565396", "OMIM:250420", "Orphanet:2502", "UMLS:C1855175" ], "synonyms": [ "metaphyseal dysostosis intellectual disability conductive deafness", "metaphyseal dysostosis mental retardation conductive deafness", "metaphyseal dysostosis, conductive hearing loss and intellectual disability", "metaphyseal dysostosis, conductive hearing loss and mental retardation", "metaphyseal dysostosis, intellectual disability, and conductive deafness", "metaphyseal dysostosis, mental retardation, and conductive deafness" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009599" }, { "id": 10836, "label": "microcephalic primordial dwarfism, Toriello type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003602", "MEDGEN:381556", "MESH:C537321", "OMIM:251190", "Orphanet:2643", "SCTID:715482004", "UMLS:C1855089", "icd11.foundation:279033035" ], "synonyms": [ "microcephalic primordial dwarfism, Toriello type", "microcephalic primordial dwarfism Toriello type", "microcephalic primordial dwarfism and cataracts" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microcephalic primordial dwarfism, Toriello type is characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009616" }, { "id": 10840, "label": "Say-Barber-Miller syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5658, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000239", "MEDGEN:343258", "MESH:C536618", "OMIM:251240", "Orphanet:3132", "SCTID:721903007", "UMLS:C1855078" ], "synonyms": [ "microcephaly-hypogammaglobulinemia-abnormal immunity syndrome", "Say Barber Miller syndrome", "microcephaly hypogammaglobulinemia abnormal immunity", "microcephaly with chemotactic defect and transient hypogammaglobulinemia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation." }, "child_count": 0, "reference_id": "MONDO:0009620" }, { "id": 10844, "label": "microcephaly and chorioretinopathy 1", "isLeaf": true, "isRoot": false, "parents": [ 2760, 4370, 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080105", "GARD:0016603", "MEDGEN:480111", "NCIT:C129306", "OMIM:251270", "Orphanet:2518", "UMLS:C3278481" ], "synonyms": [ "Pseudotoxoplasmosis syndrome", "TUBGCP6 microcephaly and chorioretinopathy", "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome", "microcephaly and chorioretinopathy 1", "microcephaly and chorioretinopathy caused by mutation in TUBGCP6", "microcephaly and chorioretinopathy type 1", "microcephaly and chorioretinopathy, autosomal recessive, type 1", "MCCRP1", "autosomal recessive chorioretinopathy-microcephaly syndrome", "microcephaly and chorioretinopathy, autosomal recessive, 1" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy." }, "child_count": 0, "reference_id": "MONDO:0009624" }, { "id": 10847, "label": "Galloway-Mowat syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080694", "GARD:0000065", "MEDGEN:167086", "MESH:C537548", "NANDO:1200713", "NANDO:2200120", "NANDO:2201385", "NCIT:C132195", "NORD:1171", "OMIMPS:251300", "Orphanet:2065", "SCTID:721297008", "UMLS:C0795949" ], "synonyms": [ "Galloway syndrome", "Galloway-Mowat syndrome", "microcephaly, hiatal hernia and nephrotic syndrome", "microcephaly-hiatus hernia-nephrotic syndrome", "nephrosis-microcephaly syndrome", "nephrosis-neuronal dysmigration syndrome", "spinocerebellar ataxia, autosomal recessive 5", "GAMOS", "Galloway Mowat syndrome", "cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities", "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities", "hiatal hernia-microcephaly-nephrosis, Galloway type", "microcephaly nephrosis syndrome", "microcephaly, hiatal hernia, and nephrotic syndrome", "nephrosis neuronal dysmigration syndrome", "spinocerebellar ataxia, autosomal recessive 5, formerly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies." }, "child_count": 20, "reference_id": "MONDO:0009627" }, { "id": 10853, "label": "microtia with meatal atresia and conductive deafness", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419093", "MESH:C537469", "OMIM:251800", "UMLS:C2931502" ], "synonyms": [ "microtia with meatal atresia and conductive deafness", "Gupta Patton syndrome", "familial microtia and meatal atresia", "familial microtia with meatal atresia and conductive deafness", "microtia meatal atresia deafness dominant", "microtia, meatal atresia and conductive deafness" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0009634" }, { "id": 10875, "label": "mucopolysaccharidosis type 6", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7019, 19111, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12800", "GARD:0007095", "MEDGEN:44514", "MESH:D009087", "MedDRA:10056892", "NANDO:1200108", "NANDO:1200109", "NANDO:1200110", "NANDO:2200551", "NCIT:C61264", "NORD:1405", "OMIM:253200", "Orphanet:583", "SCTID:52677002", "SCTID:69463008", "UMLS:C0026709", "icd11.foundation:1288379621" ], "synonyms": [ "ARSB deficiency", "ASB deficiency", "MPS6", "MPSVI", "Maroteaux Lamy Syndrome", "Maroteaux-Lamy disease", "Maroteaux-Lamy syndrome", "N-acetylgalactosamine 4-sulfatase deficiency", "arylsulfatase B deficiency", "mucopolysaccharidosis type VI", "mucopolysaccharidosis type VI (Maroteaux-Lamy)", "Arsb deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopoly-saccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency", "mucopolysaccharidosis VI" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." }, "child_count": 8, "reference_id": "MONDO:0009661" }, { "id": 10878, "label": "mulibrey nanism", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 20383, 24042 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050436", "GARD:0000095", "ICD9:759.89", "MEDGEN:99347", "MESH:D050336", "NCIT:C84906", "NORD:1465", "OMIM:253250", "Orphanet:2576", "SCTID:81604003", "UMLS:C0524582", "icd11.foundation:1167260635" ], "synonyms": [ "MUL", "Perheentupa syndrome", "mulibrey dwarfism", "mulibrey nanism", "muscle-liver-brain-eye nanism", "pericardial constriction and growth failure", "pericardial constriction-growth failure syndrome", "pericardial constriction and Growth failure" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A prenatal onset growth disorder with multiorgan manifestations." }, "child_count": 0, "reference_id": "MONDO:0009664" }, { "id": 10882, "label": "lethal multiple pterygium syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16087, 17720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003834", "ICD9:759.89", "MEDGEN:381473", "NCIT:C101038", "OMIM:253290", "Orphanet:33108", "SCTID:60192008", "UMLS:C1854678" ], "synonyms": [ "LMPS", "autosomal recessive lethal multiple pterygium syndrome", "lethal multiple pterygium syndrome", "multiple pterygium syndrome lethal type", "multiple pterygium syndrome, lethal type", "pterygium syndrome multiple lethal type", "pterygium syndrome, multiple, lethal type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition." }, "child_count": 3, "reference_id": "MONDO:0009668" }, { "id": 10884, "label": "lethal congenital contracture syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 16618, 17730 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060559", "GARD:0003227", "MEDGEN:344338", "MESH:C537194", "OMIM:253310", "Orphanet:1486", "SCTID:715418007", "UMLS:C1854664" ], "synonyms": [ "GLE1 lethal congenital contracture syndrome", "Herva disease", "LCCS1", "lethal congenital contracture syndrome 1", "lethal congenital contracture syndrome caused by mutation in GLE1", "lethal congenital contracture syndrome type 1", "multiple contracture syndrome, Finnish type", "Lccs", "lethal autosomal recessive syndrome of multiple congenital contractures" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies." }, "child_count": 0, "reference_id": "MONDO:0009670" }, { "id": 10930, "label": "Schwartz-Jampel syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611, 16753, 17206 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000250", "ICD10CM:G71.13", "ICD9:759.89", "MEDGEN:19892", "NANDO:1200224", "NANDO:2100235", "NANDO:2200876", "NCIT:C35008", "NORD:1697", "Orphanet:800", "SCTID:29145002", "UMLS:C0036391", "icd11.foundation:1725668060" ], "synonyms": [ "Aberfeld syndrome", "Catel-Hempel syndrome", "Catel-Hempel type dysostosis enchondralis metaepiphysaria", "Osteochondromuscular dystrophy", "SJS", "Schwartz Jampel Syndrome", "Schwartz-Jampel syndrome", "Schwartz-Jampel-Aberfeld syndrome", "burton skeletal dysplasia", "burton syndrome", "dysostosis enchondralis metaepiphysaria, Catel-Hempel type", "myotonic chondrodystrophy", "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies", "osteochondromuscular dystrophy", "Schwartz Jampel Aberfeld syndrome", "Schwartz Jampel syndrome", "myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities", "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)." }, "child_count": 8, "reference_id": "MONDO:0009717" }, { "id": 10934, "label": "Nathalie syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003929", "MEDGEN:338087", "MESH:C538342", "OMIM:255990", "Orphanet:2663", "SCTID:716170005", "UMLS:C1850626" ], "synonyms": [ "Nathalie syndrome", "deafness-cataract-skeletal anomalies syndrome", "deafness-cataracts-skeletal anomalies syndrome", "sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome", "deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Nathalie syndrome is characterized by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother." }, "child_count": 0, "reference_id": "MONDO:0009721" }, { "id": 10941, "label": "nephronophthisis 1", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7000, 18920 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111112", "GARD:0018645", "MEDGEN:343406", "MESH:C537699", "NANDO:1201036", "NANDO:2200140", "NCIT:C74998", "OMIM:256100", "Orphanet:93592", "SCTID:444830001", "UMLS:C1855681" ], "synonyms": [ "NPH1", "NPHP1", "NPHP1 nephronophthisis (disease)", "familial juvenile nephronophthisis", "juvenile nephronophthisis", "nephronophthisis (disease) caused by mutation in NPHP1", "nephronophthisis 1", "nephronophthisis 1, juvenile", "nephronophthisis type 1", "Nph1", "nephronophthisis, familial juvenile" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." }, "child_count": 0, "reference_id": "MONDO:0009728" }, { "id": 10942, "label": "nephropathy - deafness - hyperparathyroidism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003940", "MEDGEN:340569", "MESH:C536401", "OMIM:256120", "Orphanet:2668", "SCTID:724093004", "UMLS:C1850553" ], "synonyms": [ "Edwards-Patton-Dilly syndrome", "Edwards Patton Dilly syndrome", "nephropathy - deafness - hyperparathyroidism", "nephropathy, deafness, and hyperparathyroidism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Nephropathy-deafness-hyperparathyroidism syndrome is characterized by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009729" }, { "id": 10943, "label": "nephrosis-deafness-urinary tract-digital malformations syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003943", "MEDGEN:340568", "MESH:C536402", "OMIM:256200", "Orphanet:2669", "UMLS:C1850552" ], "synonyms": [ "Braun-Bayer syndrome", "nephrosis deafness urinary tract digital malformation", "nephrosis with deafness and urinary tract and digital malformations" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant." }, "child_count": 0, "reference_id": "MONDO:0009731" }, { "id": 10947, "label": "Netherton syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 7611, 16624, 18207 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050474", "GARD:0007182", "MEDGEN:1802991", "MESH:D056770", "MedDRA:10062909", "NANDO:1200338", "NANDO:1200619", "NANDO:2200993", "NCIT:C84922", "NORD:1290", "OMIM:256500", "Orphanet:634", "SCTID:312514006", "UMLS:C5574950", "icd11.foundation:1797493665" ], "synonyms": [ "Comèl-Netherton syndrome", "Ichthyosis, Netherton Syndrome", "NS", "Netherton syndrome", "bamboo hair syndrome", "Comel-Netherton syndrome", "Netherton disease", "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE", "neth" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations." }, "child_count": 0, "reference_id": "MONDO:0009735" }, { "id": 10970, "label": "Norman-Roberts syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16115, 19154, 23165 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060902", "GARD:0016780", "MEDGEN:163213", "OMIM:257320", "Orphanet:89844", "SCTID:717977003", "UMLS:C0796089", "icd11.foundation:164166454" ], "synonyms": [ "Microlissencephaly type A", "Norman-Roberts syndrome", "lissencephaly 2", "lissencephaly 2 (Norman-Roberts type)", "lissencephaly syndrome, Norman-Roberts type", "LIS2", "Norman Roberts lissencephaly syndrome", "lissencephaly syndrome Norman-Roberts type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation." }, "child_count": 0, "reference_id": "MONDO:0009760" }, { "id": 10984, "label": "cloacal exstrophy", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18120 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080175", "GARD:0004080", "HP:0010475", "ICD9:759.89", "MEDGEN:83377", "MESH:C537748", "MedDRA:10067424", "NANDO:1200909", "NANDO:1200910", "NANDO:2200950", "NANDO:2200951", "Orphanet:93929", "SCTID:20815007", "UMLS:C0345217", "icd11.foundation:2004612103" ], "synonyms": [ "cloacal exstrophy", "cloacal exstrophy (disease)", "omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome", "OEIS complex", "OEIS syndrome", "cloacal exstrophy sequence", "omphalocele - cloacal exstrophy - imperforate anus - spinal defect", "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects", "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex", "omphalocele-exstrophy-imperforate anus-spinal defects" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." }, "child_count": 0, "reference_id": "MONDO:0009774" }, { "id": 11002, "label": "ichthyosis-oral and digital anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 16624 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002960", "MEDGEN:342457", "MESH:C536272", "OMIM:258840", "Orphanet:2272", "UMLS:C1850268" ], "synonyms": [ "Clayton Smith-Donnai syndrome", "ichthyosis tapered fingers midline groove up", "oral and digital anomalies with ichthyosis", "unusual facies, digital abnormalities, and ichthyosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009792" }, { "id": 11008, "label": "Primrose syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004488", "MEDGEN:162911", "MESH:C536420", "OMIM:259050", "Orphanet:3042", "SCTID:726709001", "UMLS:C0796121" ], "synonyms": [ "Primrose syndrome", "intellectual disability-cataracts-calcified pinnae-myopathy syndrome", "PRIMS", "ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy." }, "child_count": 0, "reference_id": "MONDO:0009798" }, { "id": 11010, "label": "familial osteodysplasia, Anderson type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004136", "MEDGEN:337990", "MESH:C564923", "OMIM:259250", "Orphanet:2769", "UMLS:C1850186", "icd11.foundation:107132680" ], "synonyms": [ "osteodysplasia familial Anderson type", "osteodysplasia, familial, Anderson type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982." }, "child_count": 0, "reference_id": "MONDO:0009801" }, { "id": 11018, "label": "multicentric osteolysis, nodulosis, and arthropathy", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18398 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013743", "NCIT:C123437", "OMIM:259600" ], "synonyms": [ "Al-Aqeel Sewairi syndrome", "MONA", "MONA, MMP2-related", "NAO syndrome", "Torg syndrome", "Winchester-Torg syndrome", "multicentric osteolysis, nodulosis and arthropathy, MMP2-related", "multicentric osteolysis, nodulosis, and arthropathy", "nodulosis-arthropathy-osteolysis syndrome", "osteolysis, hereditary multicentric", "Torg-Winchester syndrome", "Torg-Winchester syndrome, formerly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy." }, "child_count": 0, "reference_id": "MONDO:0009809" }, { "id": 11022, "label": "osteopenia-intellectual disability-sparse hair syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000354", "MEDGEN:337979", "MESH:C537706", "OMIM:259690", "Orphanet:2324", "SCTID:732954002", "UMLS:C1850140" ], "synonyms": [ "Kaler-Garrity-Stern syndrome", "Kaler Garrity Stern syndrome", "osteopenia and sparse hair", "osteopenia intellectual disability sparse hair", "osteopenia mental retardation sparse hair" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992." }, "child_count": 0, "reference_id": "MONDO:0009814" }, { "id": 11027, "label": "osteoporosis-pseudoglioma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 19767, 24623, 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060849", "GARD:0004160", "MEDGEN:98480", "MESH:C536063", "MedDRA:10052452", "NCIT:C130998", "OMIM:259770", "Orphanet:2788", "UMLS:C0432252" ], "synonyms": [ "OPPG", "osteoporosis-pseudoglioma syndrome", "Ops", "osteogenesis imperfecta ocular form", "osteogenesis imperfecta, ocular form", "osteoporosis pseudoglioma syndrome", "pseudoglioma with bone fragility" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." }, "child_count": 0, "reference_id": "MONDO:0009820" }, { "id": 11037, "label": "Shwachman-Diamond syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060479", "DOID:0080023", "GARD:0004863", "MEDGEN:124418", "MESH:C537330", "MedDRA:10067940", "NANDO:1200356", "NANDO:2200756", "NCIT:C61235", "NORD:1711", "OMIMPS:260400", "Orphanet:811", "SCTID:89454001", "UMLS:C0272170", "icd11.foundation:232885463" ], "synonyms": [ "SDS", "Schwachman-Diamond syndrome", "Schwachmann-Diamond syndrome", "Shwachman Diamond Syndrome", "Shwachman syndrome", "Shwachman-Bodian-Diamond syndrome", "Shwachman-Diamond syndrome", "pancreatic insufficiency and bone marrow dysfunction", "Shwachman-Bodian syndrome", "Shwachman-Diamond type metaphyseal dysplasia", "congenital lipomatosis of pancreas", "lipomatosis of pancreas, congenital" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." }, "child_count": 6, "reference_id": "MONDO:0009833" }, { "id": 11041, "label": "Parana hard-skin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002598", "MEDGEN:337964", "MESH:C564905", "NCIT:C126559", "OMIM:260530", "Orphanet:2812", "UMLS:C1850079" ], "synonyms": [ "Parana hard-skin syndrome", "hard skin syndrome Parana type", "hard skin syndrome, Parana type", "hard-skin syndrome, Parana type", "Parana hard skin syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death." }, "child_count": 0, "reference_id": "MONDO:0009838" }, { "id": 11044, "label": "PEHO syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080539", "GARD:0004264", "MEDGEN:342404", "MESH:C536317", "OMIM:260565", "Orphanet:2836", "UMLS:C1850055", "icd11.foundation:976613527" ], "synonyms": [ "peho syndrome", "progressive encephalopathy with edema, hypsarrhythmia and optic atrophy", "progressive encephalopathy-optic atrophy syndrome", "infantile Cerebellooptic atrophy", "peho", "peho-like syndrome", "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies." }, "child_count": 0, "reference_id": "MONDO:0009841" }, { "id": 11056, "label": "Imerslund-Grasbeck syndrome", "isLeaf": false, "isRoot": false, "parents": [ 3888, 4370, 17107, 19087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007006", "ICD9:281.3", "MEDGEN:1640347", "MESH:C538556", "OMIMPS:261100", "Orphanet:35858", "SCTID:360495000", "UMLS:C4551825", "icd11.foundation:375969525" ], "synonyms": [ "Imerslund-Grasbeck syndrome", "Imerslund-Gräsbeck syndrome", "familial megaloblastic anaemia", "familial megaloblastic anemia", "juvenile megaloblastic Anaemia", "juvenile megaloblastic Anemia", "selective cobalamin malabsorption with proteinuria", "Gräsbeck-Imerslund disease", "defect of enterocyte intrinsic factor receptor", "enterocyte cobalamin malabsorption" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood." }, "child_count": 8, "reference_id": "MONDO:0009853" }, { "id": 11059, "label": "Peters plus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 16087, 16198, 17976, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070312", "DOID:0080201", "GARD:0008422", "ICD9:743.44", "MEDGEN:163204", "MESH:C537617", "NCIT:C123436", "OMIM:261540", "Orphanet:709", "SCTID:449817000", "UMLS:C0796012" ], "synonyms": [ "Krause-Kivlin syndrome", "Krause-van Schooneveld-Kivlin syndrome", "Peters anomaly with short limb dwarfism", "Peters-plus syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." }, "child_count": 0, "reference_id": "MONDO:0009856" }, { "id": 11074, "label": "pili torti-developmental delay-neurological abnormalities syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004362", "MEDGEN:342358", "MESH:C537398", "OMIM:261990", "Orphanet:2891", "UMLS:C1849811" ], "synonyms": [ "abnormal hair, joint laxity, and developmental delay", "pili torti and developmental delay", "pili torti developmental delay neurological abnormalities" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents." }, "child_count": 0, "reference_id": "MONDO:0009871" }, { "id": 11077, "label": "Rabson-Mendenhall syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 19135 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000226", "ICD9:259.8", "MEDGEN:78783", "NCIT:C131000", "NORD:1645", "OMIM:262190", "Orphanet:769", "SCTID:33559001", "UMLS:C0271695", "icd11.foundation:1018973126" ], "synonyms": [ "Rabson-Mendenhall syndrome", "Mendenhall syndrome", "pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes)." }, "child_count": 0, "reference_id": "MONDO:0009874" }, { "id": 11106, "label": "postaxial acrofacial dysostosis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111259", "GARD:0008410", "ICD9:759.89", "MEDGEN:120522", "MESH:C537680", "NORD:1448", "OMIM:263750", "Orphanet:246", "SCTID:66038001", "UMLS:C0265257", "icd11.foundation:70602060" ], "synonyms": [ "Miller Syndrome", "Miller syndrome", "POADS", "postaxial acrodysostosis", "postaxial acrofacial dysostosis", "GWAFD", "Genee-Wiedemann acrofacial dysostosis", "Genee-Wiedemann syndrome", "POADS syndrome", "Wildervanck-Smith syndrome", "postaxial acrofacial dysostosis (POADS) syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." }, "child_count": 0, "reference_id": "MONDO:0009903" }, { "id": 11107, "label": "Gitelman syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 8001, 16626 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050450", "GARD:0008547", "ICD9:275.49", "MEDGEN:75681", "MESH:D053579", "MedDRA:10062906", "NANDO:2100020", "NANDO:2200145", "NCIT:C84730", "NORD:1884", "OMIM:263800", "Orphanet:358", "SCTID:707756004", "UMLS:C0268450" ], "synonyms": [ "Gitelman syndrome", "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria", "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria", "GTLMNS", "Gitelman's syndrome", "Potassium and magnesium depletion", "familial hypokalemia-hypomagnesemia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion." }, "child_count": 0, "reference_id": "MONDO:0009904" }, { "id": 11113, "label": "Wiedemann-Rautenstrauch syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 16198, 16199, 19731, 24671, 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081333", "GARD:0000330", "ICD9:259.8", "MEDGEN:140806", "MESH:C536423", "NCIT:C121565", "NORD:1852", "OMIM:264090", "Orphanet:3455", "SCTID:238874008", "UMLS:C0406586" ], "synonyms": [ "Wiedemann Rautenstrauch Syndrome", "Wiedemann-Rautenstrauch syndrome", "neonatal progeroid syndrome", "Wiedemann Rautenstrauch syndrome", "progeroid syndrome neonatal", "progeroid syndrome, neonatal" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009910" }, { "id": 11123, "label": "Acrootoocular syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004559", "MEDGEN:337882", "MESH:C564866", "OMIM:264475", "Orphanet:2980", "SCTID:720410001", "UMLS:C1849661" ], "synonyms": [ "acrootoocular syndrome", "pseudopapilledema-blepharophimosis-hand anomalies syndrome", "Aoo syndrome", "pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disk swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." }, "child_count": 0, "reference_id": "MONDO:0009920" }, { "id": 11124, "label": "holoprosencephaly-postaxial polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000344", "MEDGEN:340382", "MESH:C535829", "NCIT:C125418", "OMIM:264480", "Orphanet:2166", "SCTID:716091000", "UMLS:C1849649" ], "synonyms": [ "pseudo-trisomy 13 syndrome", "PSEUDOTRISOMY 13 syndrome", "Young-Maders syndrome", "holoprosencephaly polydactyly syndrome", "holoprosencephaly-polydactyly syndrome", "pseudo trisomy 13 syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13." }, "child_count": 0, "reference_id": "MONDO:0009921" }, { "id": 11129, "label": "autosomal recessive multiple pterygium syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611, 16089, 17720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007111", "ICD9:759.89", "MEDGEN:82696", "NCIT:C101039", "OMIM:265000", "Orphanet:2990", "SCTID:80773006", "UMLS:C0265261", "icd11.foundation:1502158121" ], "synonyms": [ "EVMPS", "Escobar syndrome", "Escobar variant multiple pterygium syndrome", "autosomal recessive multiple pterygium syndrome", "autosomal recessive non-lethal multiple pterygium syndrome", "multiple pterygium syndrome, autosomal recessive", "multiple pterygium syndrome", "multiple pterygium syndrome Escobar type", "multiple pterygium syndrome nonlethal type", "multiple pterygium syndrome, ESCOBAR variant", "multiple pterygium syndrome, Nonlethal type", "pterygium Universale", "pterygium colli syndrome", "pterygium syndrome", "pterygium universale" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant." }, "child_count": 4, "reference_id": "MONDO:0009926" }, { "id": 11166, "label": "Perlman syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060476", "GARD:0003936", "MEDGEN:162909", "MESH:C536399", "NCIT:C103144", "OMIM:267000", "Orphanet:2849", "SCTID:722231005", "UMLS:C0796113", "icd11.foundation:795682441" ], "synonyms": [ "Perlman syndrome", "nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour", "nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour", "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome", "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome", "renal hamartomas, nephroblastomatosis and fetal gigantism", "renal hamartomas, nephroblastomatosis and foetal gigantism", "PRLMNS", "nephroblastomatosis fetal ascites macrosomia and Wilms tumor", "nephroblastomatosis foetal ascites macrosomia and Wilms tumour", "nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor", "nephroblastomatosis, foetal ascites, macrosomia, and Wilms tumour", "renal hamartomas, nephroblastomatosis, and fetal gigantism", "renal hamartomas, nephroblastomatosis, and foetal gigantism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009965" }, { "id": 11182, "label": "retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004683", "MEDGEN:340317", "MESH:C564841", "OMIM:268020", "Orphanet:3085", "UMLS:C1849401" ], "synonyms": [ "retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome", "retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome", "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability", "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation", "retinitis pigmentosa, deafness, intellectual disability, and hypogonadism", "retinitis pigmentosa, deafness, mental retardation, and hypogonadism", "retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993." }, "child_count": 0, "reference_id": "MONDO:0009983" }, { "id": 11199, "label": "EEC syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 18362, 18956, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060782", "GARD:0002076", "MEDGEN:98357", "MESH:C536189", "NCIT:C148261", "NORD:1079", "OMIM:268650", "Orphanet:1896", "SCTID:39788007", "UMLS:C0406704" ], "synonyms": [ "Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate", "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome", "ectrodactyly-ectodermal dysplasia-cleft syndrome", "RUDIGER syndrome", "ectrodactyly-cleft lip/palate syndrome", "ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate", "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." }, "child_count": 10, "reference_id": "MONDO:0010004" }, { "id": 11220, "label": "SHORT syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 16088, 16089, 16198, 19731, 29311 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111454", "GARD:0007633", "MEDGEN:164212", "MESH:C537327", "NORD:1710", "OMIM:269880", "Orphanet:3163", "UMLS:C0878684", "icd11.foundation:1264512044" ], "synonyms": [ "Aarskog-Ose-Pande syndrome", "Rieger anomaly-partial lipodystrophy syndrome", "SHORT syndrome", "lipodystrophy-Rieger anomaly-diabetes syndrome", "short syndrome", "lipodystrophy, partial, with Rieger anomaly and short stature", "partial lipodystrophy with Rieger anomaly and short stature", "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay", "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt." }, "child_count": 0, "reference_id": "MONDO:0010026" }, { "id": 11224, "label": "Sjogren syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3002, 3387, 4370, 21539 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12894", "EFO:0000699", "ICD10CM:M35.0", "ICD9:710.2", "MEDGEN:282890", "MESH:D012859", "NANDO:1200279", "NANDO:1200280", "NANDO:2200420", "NCIT:C26883", "OMIM:270150", "Orphanet:289390", "Orphanet:378", "SCTID:83901003", "UMLS:C1527336", "icd11.foundation:899463360" ], "synonyms": [ "Sjogren syndrome", "Sjögren syndrome", "Sjögren-Gougerot syndrome", "primary Sjogren-Gougerot syndrome", "primary Sjögren-Gougerot syndrome", "sicca syndrome", "syndrome, Sjogren's", "Sjogren's syndrome", "primary Sjögren syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0006858", "name": "mouth disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" }, "child_count": 0, "reference_id": "MONDO:0010030" }, { "id": 11242, "label": "spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004932", "MEDGEN:376519", "MESH:C564808", "OMIM:270950", "Orphanet:3011", "UMLS:C1849112" ], "synonyms": [ "spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome", "progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss", "progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss", "spastic quadriplegia retinitis pigmentosa intellectual disability", "spastic quadriplegia retinitis pigmentosa mental retardation", "spastic quadriplegia, retinitis pigmentosa, and intellectual disability", "spastic quadriplegia, retinitis pigmentosa, and mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents." }, "child_count": 0, "reference_id": "MONDO:0010051" }, { "id": 11252, "label": "corneal-cerebellar syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6639, 6799 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001525", "MEDGEN:341379", "MESH:C535472", "OMIM:271310", "Orphanet:3177", "SCTID:720750004", "UMLS:C1849087", "icd11.foundation:577494924" ], "synonyms": [ "Der Kaloustian-Jarudi-Khoury syndrome", "corneal-cerebellar syndrome", "spinocerebellar degeneration-corneal dystrophy syndrome", "Der Kaloustian Jarudi Khoury syndrome", "corneal cerebellar syndrome", "corneal dystrophy with spinocerebellar Degeneration", "spinocerebellar degeneration and corneal dystrophy", "spinocerebellar degeneration corneal dystrophy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985." }, "child_count": 0, "reference_id": "MONDO:0010063" }, { "id": 11253, "label": "spastic ataxia-corneal dystrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18064, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003795", "MEDGEN:336493", "MESH:C536989", "OMIM:271320", "Orphanet:2572", "SCTID:715465001", "UMLS:C1849085" ], "synonyms": [ "Bedouin spastic ataxia syndrome", "Mousa-Al Din-Al Nassar syndrome", "spastic ataxia-ocular anomalies syndrome", "Mousa Al din Al Nassar syndrome", "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs", "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted disks", "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." }, "child_count": 0, "reference_id": "MONDO:0010064" }, { "id": 11258, "label": "spondylocostal dysostosis-anal and genitourinary malformations syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6772, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024705", "MEDGEN:341373", "MESH:C564799", "OMIM:271520", "Orphanet:94095", "UMLS:C1849069" ], "synonyms": [ "Casamassima-Morton-Nance syndrome", "CMn syndrome", "spondylocostal dysostosis with anal atresia and urogenital anomalies", "spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0010069" }, { "id": 11268, "label": "familial infantile bilateral striatal necrosis", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5100, 16334 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017141", "MEDGEN:1672478", "OMIM:271930", "Orphanet:225154", "UMLS:C4087174", "icd11.foundation:1873983370" ], "synonyms": [ "familial IBSN", "familial infantile striatonigral degeneration", "familial infantile striatonigral necrosis", "hereditary infantile bilateral striatal necrosis", "FBSN", "SNDI", "bilateral striatal Necrosis, infantile", "familial bilateral striatal necrosis", "infantile bilateral striatal necrosis", "striatal degeneration, familial", "striatonigral degeneration, infantile" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." }, "child_count": 3, "reference_id": "MONDO:0010080" }, { "id": 11270, "label": "subaortic stenosis-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000405", "MEDGEN:167085", "MESH:C537749", "OMIM:271960", "Orphanet:3191", "UMLS:C0795947" ], "synonyms": [ "Onat syndrome", "subaortic stenosis short stature syndrome", "subaortic stenosis--short stature syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0010082" }, { "id": 11305, "label": "thrombocytopenia-absent radius syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 10564, 18362, 18746, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:64", "DOID:14699", "GARD:0005116", "ICD9:759.89", "MEDGEN:61235", "MESH:C536940", "MedDRA:10071719", "NANDO:2200661", "NCIT:C99038", "NORD:1768", "OMIM:274000", "Orphanet:3320", "SCTID:85589009", "UMLS:C0175703" ], "synonyms": [ "1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome", "TAR syndrome", "Thrombocytopenia Absent Radius Syndrome", "radial aplasia-thrombocytopenia syndrome", "thrombocytopenia-absent radius syndrome", "TAR", "Tar syndrome", "absent radii and thrombocytopenia", "chromosome 1Q21.1 deletion syndrome, 200-Kb", "thrombocytopenia absent radii", "thrombocytopenia absent radius syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia." }, "child_count": 0, "reference_id": "MONDO:0010121" }, { "id": 11311, "label": "thyrocerebrorenal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001646", "MEDGEN:341311", "MESH:C536908", "OMIM:274240", "Orphanet:3327", "SCTID:733096007", "UMLS:C1848813" ], "synonyms": [ "Cutler Bass Romshe syndrome", "Cutler-Bass-Romshe syndrome", "thyrocerebroretinal syndrome", "thyrocerebral-retinal syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0010128" }, { "id": 11317, "label": "Pendred syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 18613 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060744", "GARD:0004271", "MEDGEN:82890", "MESH:C536648", "NCIT:C121745", "NORD:2030", "OMIM:274600", "Orphanet:705", "SCTID:70348004", "UMLS:C0271829", "icd11.foundation:1156056623" ], "synonyms": [ "Pendred syndrome", "TDH2B", "deafness with goiter", "deafness with goitre", "goiter-deafness syndrome", "hypothyroidism, congenital, due to dyshormonogenesis, 2B", "thyroid dyshormonogenesis 2B", "thyroid hormonogenesis, genetic defect in, 2B", "PDS", "autosomal recessive sensorineural hearing impairment and goiter", "autosomal recessive sensorineural hearing impairment and goitre" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." }, "child_count": 0, "reference_id": "MONDO:0010134" }, { "id": 11354, "label": "VACTERL with hydrocephalus", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000272", "MEDGEN:376400", "OMIM:276950", "Orphanet:3412", "UMLS:C1848599", "icd11.foundation:1646268729" ], "synonyms": [ "Sujansky-Leonard syndrome", "VACTERL association with hydrocephalus", "VACTERL association with hydrocephaly", "VACTERL hydrocephaly", "VACTERL-H", "Vater association with hydrocephalus", "Vater association with macrocephaly and ventriculomegaly", "vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association." }, "child_count": 1, "reference_id": "MONDO:0010172" }, { "id": 11375, "label": "Weaver syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 18360, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14731", "GARD:0007878", "GTR:AN0102079", "GTR:AN0102080", "ICD9:759.89", "MEDGEN:120511", "MESH:C536687", "NANDO:1200659", "NANDO:2200957", "NCIT:C125599", "NORD:1839", "OMIM:277590", "Orphanet:3447", "SCTID:63119004", "UMLS:C0265210", "icd11.foundation:2042913723" ], "synonyms": [ "Weaver syndrome", "camptodactyly-overgrowth-unusual facies syndrome", "EZH2 related overgrowth", "WEAVER syndrome", "WVS", "Weaver Smith syndrome", "Weaver Williams syndrome", "Weaver like syndrome", "Weaver-Smith syndrome", "Weaver-like syndrome", "camptodactyly - overgrowth - unusual facies", "intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate", "mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate", "overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry." }, "child_count": 0, "reference_id": "MONDO:0010193" }, { "id": 11377, "label": "Werner syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 16199 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5688", "GARD:0007885", "ICD9:259.8", "MEDGEN:12147", "MESH:D014898", "MedDRA:10049429", "NANDO:1200676", "NANDO:2200831", "NCIT:C3447", "NORD:1845", "OMIM:277700", "Orphanet:902", "SCTID:51626007", "UMLS:C0043119", "icd11.foundation:1864550134" ], "synonyms": [ "WS", "Werner syndrome", "Werner's syndrome", "adult premature aging syndrome", "adult progeria", "WRN" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." }, "child_count": 0, "reference_id": "MONDO:0010196" }, { "id": 11379, "label": "Wernicke-Korsakoff syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 8312 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10915", "EFO:1001242", "GARD:0027793", "MEDGEN:83883", "MESH:C538669", "MedDRA:10047913", "NCIT:C35764", "OMIM:277730", "SCTID:69482004", "UMLS:C0349464", "icd11.foundation:2017611840" ], "synonyms": [ "Wernicke-Korsakoff syndrome", "Wernicke encephalopathy", "alcohol-induced encephalopathy", "transketolase defect" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed." }, "child_count": 2, "reference_id": "MONDO:0010198" }, { "id": 11385, "label": "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005594", "MEDGEN:98033", "MESH:C536746", "OMIM:278200", "Orphanet:1409", "SCTID:239023005", "UMLS:C0406718" ], "synonyms": [ "Salamon syndrome", "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome", "woolly hair hypotrichosis everted lower lip and outstanding ears", "woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears", "wooly hair hypotrichosis everted lower lip and outstanding ears", "wooly hair, hypotrichosis, everted LOWER LIP, and outstanding ears" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0010207" }, { "id": 11395, "label": "de Sanctis-Cacchione syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112158", "GARD:0008276", "ICD9:759.89", "MEDGEN:75550", "MESH:C535992", "NCIT:C84666", "NORD:1035", "OMIM:278800", "Orphanet:1569", "SCTID:414673004", "UMLS:C0265201", "icd11.foundation:594988031" ], "synonyms": [ "De Sanctis Cacchione Syndrome", "de Sanctis-Cacchione syndrome", "xerodermic idiocy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities." }, "child_count": 0, "reference_id": "MONDO:0010217" }, { "id": 11402, "label": "corpus callosum agenesis-abnormal genitalia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112151", "GARD:0004528", "MEDGEN:163217", "MESH:C563110", "OMIM:300004", "Orphanet:2508", "SCTID:763797003", "UMLS:C0796124" ], "synonyms": [ "ACC-abnormal genitalia syndrome", "Proud syndrome", "Proud-Levine-Carpenter syndrome", "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome", "ACC with abnormal genitalia", "New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum", "Proud Levine Carpenter syndrome", "corpus callosum, agenesis of, with abnormal genitalia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed." }, "child_count": 0, "reference_id": "MONDO:0010224" }, { "id": 11437, "label": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111860", "GARD:0016761", "MEDGEN:337424", "MESH:C564570", "OMIM:300194", "Orphanet:86818", "SCTID:720982007", "UMLS:C1846242" ], "synonyms": [ "AMME complex", "AMME syndrome", "ATS-MR", "Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis", "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis", "Ats-Mr", "chromosome Xq22.3 telomeric deletion syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 1, "reference_id": "MONDO:0010263" }, { "id": 11442, "label": "X-linked lissencephaly with abnormal genitalia", "isLeaf": true, "isRoot": false, "parents": [ 2902, 4370, 18774 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112238", "GARD:0012491", "MEDGEN:375832", "MESH:C564563", "OMIM:300215", "Orphanet:452", "SCTID:717632002", "UMLS:C1846171" ], "synonyms": [ "X-linked lissencephaly with abnormal genitalia", "X-linked lissencephaly with ambiguous genitalia", "X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome", "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome", "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome", "lissencephaly, X-linked, type 2", "LISX2", "X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies", "XLAG syndrome", "Xlisg", "hydranencephaly and abnormal genitalia", "hydranencephaly with abnormal genitalia", "lissencephaly, X-linked 2", "lissencephaly, X-linked, 2", "lissencephaly, X-linked, with ambiguous genitalia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0010268" }, { "id": 11445, "label": "X-linked myotubular myopathy-abnormal genitalia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 11827, 17410, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017792", "MEDGEN:335354", "MESH:C564561", "OMIM:300219", "Orphanet:456328", "UMLS:C1846169" ], "synonyms": [ "Xq28 contiguous gene deletion syndrome", "myotubular myopathy with abnormal genital development" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia." }, "child_count": 0, "reference_id": "MONDO:0010271" }, { "id": 11451, "label": "Christianson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060825", "GARD:0010572", "ICD9:759.89", "MEDGEN:394455", "MESH:C567484", "OMIM:300243", "Orphanet:85278", "SCTID:702354007", "UMLS:C2678194" ], "synonyms": [ "Christianson syndrome", "MRXSCH", "X-linked Angelman-like syndrome", "intellectual developmental disorder, X-linked syndromic, Christianson type", "intellectual disability, X-linked syndromic, Christianson type", "intellectual disability, microcephaly, epilepsy, and ataxia syndrome", "mental retardation, microcephaly, epilepsy, and ataxia syndrome", "Angelman-like syndrome X-linked", "Angelman-like syndrome, X-linked", "MRXS Christianson", "X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy", "intellectual disability X-linked syndromic Christianson type", "intellectual disability microcephaly epilepsy and ataxia syndrome", "intellectual disability, X-linked, syndromic, Christianson type", "mental retardation, X-linked, syndromic, Christianson type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." }, "child_count": 0, "reference_id": "MONDO:0010278" }, { "id": 11457, "label": "Armfield syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050764", "GARD:0016742", "MEDGEN:375800", "MESH:C564551", "OMIM:300261", "Orphanet:85276", "SCTID:719017003", "UMLS:C1846057" ], "synonyms": [ "Armfield X-linked intellectual disability syndrome", "Armfield X-linked mental retardation syndrome", "Armfield syndrome", "MRXSA", "X-linked intellectual disability, Armfield type", "intellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessive", "intellectual disability syndrome, X-linked, Armfield type", "mental retardation syndrome, X-linked, armfield type, X-linked recessive", "syndromic X-linked intellectual disability Armfield type", "intellectual disability, X-linked, syndromic, Armfield type", "mental retardation, X-linked, syndromic, Armfield type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28." }, "child_count": 0, "reference_id": "MONDO:0010284" }, { "id": 11470, "label": "Lesch-Nyhan syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16715 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1919", "GARD:0007226", "ICD10CM:E79.1", "ICD9:277.2", "MEDGEN:9721", "MESH:D007926", "MedDRA:10057589", "NANDO:2200586", "NCIT:C61255", "NORD:1365", "OMIM:300322", "Orphanet:510", "SCTID:10406007", "UMLS:C0023374", "icd11.foundation:1886495906" ], "synonyms": [ "HPRT complete deficiency", "HPRT deficiency grade IV", "Lesch Nyhan Syndrome", "Lesch-Nyhan syndrome", "Lesch-Nyhan syndrome, X-linked recessive", "X-linked hyperuricemia", "X-linked hyperuricemia (disorder) [ambiguous]", "complete hypoxanthine-guanine phosphoribosyltransferase deficiency", "deficiency of IMP pyrophosphorylase", "hypoxanthine guanine phosphoribosyltransferase complete deficiency", "hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV", "HPRT deficiency", "HPRT deficiency, complete", "HPRT deficiency, neurologic variant", "Hprt1 deficiency", "LNS", "Lesch Nyhan disease", "Lesch Nyhan syndrome", "Lesch-Nyhan syndrome, neurologic variant", "hypoxanthine guanine phospho-ribosyltransferase 1 deficiency", "hypoxanthine guanine phosphoribosyltransferase 1 deficiency", "hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." }, "child_count": 2, "reference_id": "MONDO:0010298" }, { "id": 11493, "label": "Atkin-Flaitz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003537", "MEDGEN:163230", "MESH:C538195", "OMIM:300431", "Orphanet:1193", "SCTID:718577005", "UMLS:C0796206" ], "synonyms": [ "Atkin-Flaitz syndrome", "X-linked intellectual disability, Atkin type", "Atkin syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked." }, "child_count": 0, "reference_id": "MONDO:0010323" }, { "id": 11498, "label": "alpha-thalassemia-myelodysplastic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112125", "GARD:0017167", "ICD9:282.49", "MEDGEN:108433", "MESH:C563023", "OMIM:300448", "Orphanet:231401", "SCTID:307343001", "UMLS:C0585216" ], "synonyms": [ "ATMDS", "acquired HbH disease", "acquired haemoglobin H disease", "acquired hemoglobin H disease", "alpha-thalassemia myelodysplasia syndrome, somatic", "ALPHA-thalassemia myelodysplasia syndrome", "Haemoglobin H disease, acquired", "Hemoglobin H disease, acquired" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH)." }, "child_count": 0, "reference_id": "MONDO:0010328" }, { "id": 11520, "label": "deafness-intellectual disability, Martin-Probst type syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060830", "GARD:0016750", "MEDGEN:375620", "MESH:C564495", "OMIM:300519", "Orphanet:85321", "SCTID:721087008", "UMLS:C1845285" ], "synonyms": [ "Martin-Probst syndrome", "X-linked deafness-intellectual disability syndrome syndrome", "intellectual disability, X-linked, syndromic, Martin-Probst type", "martin-probst syndrome, X-linked recessive", "mental retardation, X-linked, syndromic, Martin-Probst type", "MRXSMP", "Martin-Probst deafness-intellectual disability syndrome", "Martin-Probst deafness-mental retardation syndrome", "deafness-intellectual disability syndrome, Martin-Probst type", "intellectual disability, X-linked, syndromic, MARTIN-Probst type", "mental retardation, X-linked, syndromic, MARTIN-Probst type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0010353" }, { "id": 11545, "label": "fragile X-associated tremor/ataxia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17096 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050879", "GARD:0016806", "MEDGEN:333403", "MESH:C564105", "NANDO:1200690", "NANDO:1200691", "NCIT:C126566", "OMIM:300623", "Orphanet:93256", "SCTID:448045004", "UMLS:C1839780" ], "synonyms": [ "FXTAS syndrome", "Fragile X tremor/ataxia syndrome, X-linked dominant", "FXTAS", "fragile 10 tremor/ataxia syndrome", "fragile X tremor/ataxia syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." }, "child_count": 0, "reference_id": "MONDO:0010382" }, { "id": 11546, "label": "fragile X syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14261", "GARD:0006464", "ICD9:759.83", "MEDGEN:8912", "MESH:D005600", "MedDRA:10017324", "NANDO:1200692", "NANDO:2100224", "NANDO:2200840", "NCIT:C84717", "NORD:1159", "OMIM:300624", "Orphanet:908", "SCTID:613003", "UMLS:C0016667", "icd11.foundation:1524287677" ], "synonyms": [ "FRAXA syndrome", "FXS", "FraX syndrome", "Fragile X syndrome, X-linked dominant", "Martin-Bell syndrome", "fragile X intellectual disability syndrome", "fragile X syndrome", "marker X syndrome", "X-linked intellectual disability and macroorchidism", "X-linked mental retardation and macroorchidism", "fra(X) syndrome", "fragile 10 intellectual disability syndrome", "fragile 10 mental retardation syndrome", "fragile 10 premature ovarian failure", "fragile 10 syndrome", "intellectual disability, X-linked, associated with Marxq28", "marker 10 syndrome", "mental retardation, X-linked, associated with Marxq28", "primary ovarian insufficiency, fragile X-associated" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities." }, "child_count": 8, "reference_id": "MONDO:0010383" }, { "id": 11569, "label": "syndactyly-telecanthus-anogenital and renal malformations syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 18956, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111931", "GARD:0010295", "MEDGEN:394424", "MESH:C567475", "OMIM:300707", "Orphanet:140952", "SCTID:723581006", "UMLS:C2678045" ], "synonyms": [ "STAR syndrome", "STAR syndrome, X-linked dominant", "syndactyly-telecanthus-anogenital and renal malformations syndrome", "STAR", "Star syndrome", "syndactyly with renal and anogenital malformations", "syndactyly, telecanthus, anogenital and renal malformations", "toe syndactyly, telecanthus, and anogenital and renal malformations", "toe syndactyly, telecanthus, anogenital and renal malformations" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." }, "child_count": 0, "reference_id": "MONDO:0010408" }, { "id": 11622, "label": "X-linked dominant chondrodysplasia, Chassaing-Lacombe type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112106", "GARD:0017007", "MEDGEN:477107", "OMIM:300863", "Orphanet:163966", "SCTID:719837003", "UMLS:C3275476" ], "synonyms": [ "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome", "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant", "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." }, "child_count": 0, "reference_id": "MONDO:0010463" }, { "id": 11633, "label": "X-linked central congenital hypothyroidism with late-onset testicular enlargement", "isLeaf": true, "isRoot": false, "parents": [ 2902, 4370, 16927 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111140", "GARD:0017499", "MEDGEN:763877", "NCIT:C130989", "OMIM:300888", "Orphanet:329235", "UMLS:C3550963" ], "synonyms": [ "CHTE", "IGSF1 deficiency syndrome", "Immunoglobulin superfamily member 1 deficiency syndrome", "X-linked central congenital hypothyroidism with late-onset macroorchidism", "X-linked central congenital hypothyroidism with late-onset testicular enlargement", "hypothyroidism Central and testicular enlargement", "hypothyroidism, central, and testicular enlargement, X-linked recessive", "hypothyroidism, central, and testicular enlargement" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency." }, "child_count": 0, "reference_id": "MONDO:0010475" }, { "id": 11672, "label": "Meester-Loeys syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111861", "GARD:0024735", "MEDGEN:934778", "NCIT:C187989", "OMIM:300989", "UMLS:C4310811" ], "synonyms": [ "MRLS", "Meester-Loeys syndrome", "Meester-Loeys syndrome; MRLS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0010515" }, { "id": 11688, "label": "Arts syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050647", "GARD:0008756", "ICD9:277.2", "MEDGEN:163205", "MESH:C535388", "OMIM:301835", "Orphanet:1187", "SCTID:702441001", "UMLS:C0796028" ], "synonyms": [ "ARTS", "Arts", "Arts syndrome", "Arts syndrome, X-linked recessive", "MRXS18", "MRXSARTS", "lethal ataxia with deafness and optic atrophy", "syndromic X-linked intellectual disability 18", "syndromic X-linked intellectual disability Arts type", "X-linked fatal ataxia with deafness and loss of vision", "ataxia, fatal X-linked, with deafness and loss of vision", "intellectual disability, X-linked, syndromic 18", "intellectual disability, X-linked, syndromic, Arts type", "lethal ataxia-deafness-optic atrophy", "mental retardation, X-linked, syndromic 18", "mental retardation, X-linked, syndromic, Arts type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy." }, "child_count": 0, "reference_id": "MONDO:0010533" }, { "id": 11694, "label": "X-linked mandibulofacial dysostosis", "isLeaf": true, "isRoot": false, "parents": [ 2902, 4370, 16319 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001002", "MEDGEN:375543", "MESH:C537102", "OMIM:301950", "Orphanet:1131", "SCTID:719813003", "UMLS:C1844918", "icd11.foundation:135565112" ], "synonyms": [ "X-linked branchial arch syndrome", "X-linked mandibulofacial dysostosis with limb anomalies", "mandibulofacial dysostosis, Toriello type", "mandibulofacial dysostosis, X-linked", "MFD Toriello type", "branchial arch syndrome X-linked", "branchial arch syndrome, X-linked", "mandibulofacial dysostosis Toriello type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." }, "child_count": 0, "reference_id": "MONDO:0010539" }, { "id": 11708, "label": "Abruzzo-Erickson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111826", "GARD:0000360", "MEDGEN:375529", "MESH:C535559", "OMIM:302905", "Orphanet:921", "SCTID:718574003", "UMLS:C1844862" ], "synonyms": [ "ABERS", "Abruzzo-Erickson syndrome", "CHARGE-like syndrome", "cleft palate-coloboma-deafness syndrome", "CHARGE like syndrome X-linked", "CHARGE-like syndrome, X-linked" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis." }, "child_count": 0, "reference_id": "MONDO:0010554" }, { "id": 11722, "label": "Aicardi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20383, 24488 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8461", "GARD:0005764", "MEDGEN:61236", "MESH:D058540", "MedDRA:10054935", "NANDO:1200562", "NCIT:C35256", "NORD:745", "OMIM:304050", "Orphanet:50", "SCTID:80651009", "UMLS:C0175713", "icd11.foundation:2057245946" ], "synonyms": [ "AIC", "Aicardi syndrome", "Aicardi syndrome, X-linked dominant", "Aicardi’s syndrome", "agenesis of corpus callosum with chorioretinal abnormality", "corpus callosum agenesis of with chorioretinal abnormality", "corpus callosum, agenesis of, with chorioretinal abnormality" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females." }, "child_count": 0, "reference_id": "MONDO:0010568" }, { "id": 11724, "label": "craniofrontonasal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360, 20691 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14737", "GARD:0001578", "MEDGEN:65095", "MESH:C536456", "NORD:1012", "OMIM:304110", "Orphanet:1520", "SCTID:715421009", "UMLS:C0220767" ], "synonyms": [ "CFND", "CFNS", "Craniofrontonasal Dysplasia", "craniofrontonasal dysplasia", "craniofrontonasal dysplasia, X-linked dominant", "craniofrontonasal syndrome", "craniofrontonasal dysostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism." }, "child_count": 0, "reference_id": "MONDO:0010570" }, { "id": 11729, "label": "deafness-hypogonadism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001691", "MEDGEN:335003", "MESH:C564435", "OMIM:304350", "Orphanet:90646", "UMLS:C1844680" ], "synonyms": [ "deafness-hypogonadism syndrome", "DHS", "deafness hypogonadism syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior." }, "child_count": 0, "reference_id": "MONDO:0010575" }, { "id": 11733, "label": "X-linked corneal dermoid", "isLeaf": true, "isRoot": false, "parents": [ 3211, 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002580", "MEDGEN:375481", "MESH:C535376", "OMIM:304730", "Orphanet:1661", "SCTID:715426004", "UMLS:C1844671", "icd11.foundation:118076382" ], "synonyms": [ "Guízar Vázquez-Luengas-muñoz syndrome", "corneal dystrophy epithelial-short stature syndrome", "CND", "Guizar-Vazquez Luengas-Munoz syndrome", "bilateral corneal dermoids", "corneal dermoids and short stature", "dermoids of cornea" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission." }, "child_count": 0, "reference_id": "MONDO:0010579" }, { "id": 11734, "label": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2997, 3018, 4370, 5714, 16071, 19530 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090110", "GARD:0001850", "ICD9:250.81", "MEDGEN:83339", "MESH:C580192", "NANDO:2200924", "NCIT:C131009", "OMIM:304790", "Orphanet:37042", "SCTID:237618001", "UMLS:C0342288", "icd11.foundation:1060287444" ], "synonyms": [ "DMSD", "IDDM-secretory diarrhea syndrome", "IDDM-secretory diarrhoea syndrome", "IPEX", "X linked polyendocrinopathy", "X-linked autoimmunity-allergic dysregulation syndrome", "XLAAD", "XPID", "autoimmune enteropathy type 1", "autoimmunity-immunodeficiency syndrome, X-linked", "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea", "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea", "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked", "immune dysfunction and diarrhea syndrome", "immune dysfunction and diarrhoea syndrome", "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome", "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked", "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive", "IDDM secretory diarrhea syndrome", "IDDM secretory diarrhoea syndrome", "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked", "IPEX syndrome", "Iddm-secretory diarrhea syndrome", "Iddm-secretory diarrhoea syndrome", "Immunodysregulation, polyendocrinopathy and enteropathy X-linked", "autoimmunity-immunodeficiency syndrome X-linked", "enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy", "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy", "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly", "islets of Langerhans, absence of", "polyendocrinopathy, immune dysfunction and diarrhea X-linked", "polyendocrinopathy, immune dysfunction and diarrhoea X-linked", "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." }, "child_count": 0, "reference_id": "MONDO:0010580" }, { "id": 11760, "label": "hydrocephaly-cerebellar agenesis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001200", "MEDGEN:375335", "MESH:C564407", "OMIM:307010", "Orphanet:1397", "UMLS:C1844005" ], "synonyms": [ "X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome", "cerebellum agenesis hydrocephaly", "hydrocephalus with cerebellar agenesis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported." }, "child_count": 0, "reference_id": "MONDO:0010612" }, { "id": 11784, "label": "keratosis follicularis-dwarfism-cerebral atrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003099", "MEDGEN:374340", "MESH:C536158", "OMIM:308830", "Orphanet:2339", "UMLS:C1839910" ], "synonyms": [ "dwarfism, cerebral atrophy and generalised keratosis follicularis", "dwarfism, cerebral atrophy and generalized keratosis follicularis", "keratosis follicularis dwarfism and cerebral atrophy", "keratosis follicularis, dwarfism, and cerebral atrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present." }, "child_count": 0, "reference_id": "MONDO:0010638" }, { "id": 11785, "label": "laryngeal abductor paralysis-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016597", "MEDGEN:1855824", "OMIM:308850", "Orphanet:2375", "SCTID:724178000", "UMLS:C5886766" ], "synonyms": [ "Plott syndrome", "laryngeal abductor paralysis", "vocal cord dysfunction, familial" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Laryngeal abductor paralysis-intellectual disability syndrome is characterized by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely." }, "child_count": 0, "reference_id": "MONDO:0010639" }, { "id": 11791, "label": "oculocerebrorenal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 16626, 19084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1056", "GARD:0003295", "ICD9:270.8", "MEDGEN:18145", "MESH:D009800", "MedDRA:10051707", "NANDO:2100028", "NANDO:2200188", "NCIT:C84940", "NORD:1379", "OMIM:309000", "Orphanet:534", "SCTID:79385002", "UMLS:C0028860", "icd11.foundation:1392767390" ], "synonyms": [ "Lowe disease", "Lowe oculo-cerebro-renal syndrome", "Lowe oculocerebrorenal syndrome", "Lowe syndrome", "Lowe syndrome, X-linked recessive", "OCR", "OCRL", "oculo-cerebro-renal dystrophy", "oculo-cerebro-renal syndrome", "oculocerebrorenal dystrophy", "oculocerebrorenal syndrome", "oculocerebrorenal syndrome of Lowe", "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency", "Ocrl1", "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." }, "child_count": 0, "reference_id": "MONDO:0010645" }, { "id": 11797, "label": "Menkes disease", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6470, 17987 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1838", "GARD:0001521", "ICD9:759.89", "MEDGEN:44030", "MESH:D007706", "MedDRA:10027294", "NANDO:1200653", "NANDO:2200580", "NCIT:C75486", "NORD:1440", "OMIM:309400", "Orphanet:565", "SCTID:59178007", "UMLS:C0022716", "icd11.foundation:986728180" ], "synonyms": [ "copper transport disease", "MD", "MNK", "Menkes disease", "Menkes kinky hair syndrome", "Menkes kinky-hair syndrome", "Menkes syndrome", "Mk", "Trichopoliodystrophy", "X-linked copper deficiency", "kinky hair disease", "kinky hair syndrome", "menkes disease, X-linked recessive", "steely hair disease", "Menkea syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." }, "child_count": 0, "reference_id": "MONDO:0010651" }, { "id": 11808, "label": "paraplegia-intellectual disability-hyperkeratosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002344", "MEDGEN:411554", "MESH:C537058", "OMIM:309560", "Orphanet:2824", "UMLS:C2745996" ], "synonyms": [ "Fitzsimmons-McLachlan-Gilbert syndrome", "intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis", "mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition." }, "child_count": 0, "reference_id": "MONDO:0010662" }, { "id": 11819, "label": "mucopolysaccharidosis type 2", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19111, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12799", "GARD:0006675", "ICD10CM:E76.1", "MEDGEN:7734", "MESH:D016532", "MedDRA:10056889", "NANDO:1200097", "NANDO:2200548", "NCIT:C61260", "NORD:1255", "OMIM:309900", "Orphanet:580", "Orphanet:79388", "SCTID:70737009", "UMLS:C0026705", "icd11.foundation:1056274204" ], "synonyms": [ "Hunter syndrome", "Hunter's syndrome", "I2S deficiency", "IDS deficiency", "MPS 2", "MPS II", "MPS with skin involvement", "MPS2", "MPSII", "Mucopolysaccharidosis Type II", "SIDS deficiency", "attenuated MPS (subtype; formerly known as mild MPS II)", "iduronate 2-sulfatase deficiency", "mucopolysaccharidosis II, X-linked recessive", "mucopolysaccharidosis type 2", "mucopolysaccharidosis type II", "mucopolysaccharidosis with skin involvement", "mucopolysaccharidosis, type 2", "mucopolysaccharidosis, type II", "severe MPS II", "sulfoiduronate sulfatase deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." }, "child_count": 6, "reference_id": "MONDO:0010674" }, { "id": 11845, "label": "orofaciodigital syndrome I", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226, 29269 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060316", "GARD:0004121", "MEDGEN:307142", "MESH:C537134", "NCIT:C75481", "OMIM:311200", "Orphanet:2750", "SCTID:763833006", "UMLS:C1510460" ], "synonyms": [ "OFD syndrome 1", "OFD1", "OFDI", "OFDS 1", "OFDSI", "Papillon-Leage and Psaume syndrome", "Papillon-Léage-Psaume syndrome", "Papillon-league-Psaume syndrome (formerly)", "oral facial digital syndrome 1", "oral facial digital syndrome type 1", "oral-facial-digital syndrome 1", "oral-facial-digital syndrome type 1", "oral-facial-digital syndrome, type 1", "orofaciodigital syndrome 1", "orofaciodigital syndrome I", "orofaciodigital syndrome i, X-linked dominant", "orofaciodigital syndrome type 1", "orofaciodigital syndrome type I" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." }, "child_count": 0, "reference_id": "MONDO:0010702" }, { "id": 11847, "label": "otopalatodigital syndrome type 1", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18940 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111783", "GARD:0005121", "ICD9:759.89", "MEDGEN:78542", "NCIT:C118845", "OMIM:311300", "Orphanet:90650", "SCTID:54036001", "UMLS:C0265251", "icd11.foundation:1442049882" ], "synonyms": [ "OPD 1 syndrome", "OPD I syndrome", "OPD syndrome 1", "OPD1", "Taybi syndrome", "oto-palato-digital syndrome type 1", "otopalatodigital syndrome, type 1", "otopalatodigital syndrome, type I", "otopalatodigital syndrome, type I, X-linked dominant", "OPD syndrome", "frontootopalatodigital osteodysplasia", "otopalatodigital spectrum disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies." }, "child_count": 0, "reference_id": "MONDO:0010704" }, { "id": 11850, "label": "Pallister-W syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000358", "MEDGEN:163215", "MESH:C538106", "OMIM:311450", "Orphanet:2804", "SCTID:719020006", "UMLS:C0796110" ], "synonyms": [ "Pallister-W syndrome", "W syndrome", "Pallister W syndrome", "median cleft upper lip, intellectual disability and pugilistic facies", "median cleft upper lip, mental retardation and pugilistic facies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant." }, "child_count": 0, "reference_id": "MONDO:0010708" }, { "id": 11866, "label": "Rett syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3009, 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1206", "GARD:0005696", "ICD9:330.8", "MEDGEN:48441", "MESH:D015518", "MedDRA:10039000", "NANDO:1200603", "NANDO:1200604", "NANDO:2100219", "NANDO:2200825", "NCIT:C75488", "NORD:1666", "OMIM:312750", "Orphanet:778", "SCTID:68618008", "UMLS:C0035372", "icd11.foundation:201200685" ], "synonyms": [ "RTS", "RTT", "Rett syndrome", "Rett syndrome, X-linked dominant", "Rett syndrome, atypical, X-linked dominant", "Rett syndrome, preserved speech variant, X-linked dominant", "Rett’s disease", "Rett syndrome, Zappella variant", "Rett syndrome, atypical", "Rett syndrome, preserved speech variant", "autism, dementia, ataxia, and loss of purposeful hand use" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A severe neurodevelopmental disorder affecting the central nervous system." }, "child_count": 0, "reference_id": "MONDO:0010726" }, { "id": 11868, "label": "SCARF syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000247", "MEDGEN:326461", "MESH:C536625", "OMIM:312830", "Orphanet:3134", "SCTID:734173003", "UMLS:C1839321", "icd11.foundation:1075253748" ], "synonyms": [ "SCARF syndrome", "skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive." }, "child_count": 0, "reference_id": "MONDO:0010728" }, { "id": 11871, "label": "Simpson-Golabi-Behmel syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19480 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007649", "ICD9:759.89", "MEDGEN:1387611", "MESH:C537340", "NANDO:2200978", "NCIT:C131002", "NORD:1717", "Orphanet:373", "SCTID:439143004", "UMLS:C4317043", "icd11.foundation:181316558" ], "synonyms": [ "DGSX", "Golabi-Rosen syndrome", "SDYS", "SGB syndrome", "SGBS", "Sara Angers syndrome", "Simpson-Golabi-Behmel syndrome", "X-linked dysplasia gigantism syndrome", "Sgbs", "dysplasia gigantism syndrome, X-linked" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk." }, "child_count": 4, "reference_id": "MONDO:0010731" }, { "id": 11888, "label": "torticollis-keloids-cryptorchidism-renal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005230", "MEDGEN:326819", "MESH:C536970", "OMIM:314300", "Orphanet:3341", "UMLS:C1839129" ], "synonyms": [ "Goeminne TKCR syndrome", "Goeminne syndrome", "TKCR", "Tkc", "Tkcr syndrome", "torticollis keloids cryptorchidism renal dysplasia", "torticollis, keloids, cryptorchidism, and renal dysplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies." }, "child_count": 0, "reference_id": "MONDO:0010748" }, { "id": 11889, "label": "trigonocephaly-short stature-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000243", "MEDGEN:374138", "MESH:C536620", "OMIM:314320", "Orphanet:3369", "SCTID:733066002", "UMLS:C1839125" ], "synonyms": [ "Say-Meyer syndrome", "Say Meyer syndrome", "trigonocephaly with short stature and developmental delay", "trigonocephaly, short stature and developmental delay", "trigonocephaly, short stature, and retarded psychomotor development" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out." }, "child_count": 0, "reference_id": "MONDO:0010749" }, { "id": 11890, "label": "ulnar hypoplasia-split foot syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005400", "MEDGEN:333256", "MESH:C536936", "OMIM:314360", "Orphanet:1122", "UMLS:C1839123" ], "synonyms": [ "Van den Berghe-Dequecker syndrome", "ulnar hypoplasia-lobster-claw deformity of feet syndrome", "Van De Berghe Dequeker syndrome", "complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet", "familial ulnar aplasia and lobster claw syndrome", "severe ulnar aplasia and lobster claw feet", "ulnar hypoplasia lobster claw deformity of feet", "ulnar hypoplasia with lobster-claw deformity of feet" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded." }, "child_count": 0, "reference_id": "MONDO:0010750" }, { "id": 11894, "label": "van den Bosch syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005453", "MEDGEN:162920", "MESH:C563129", "OMIM:314500", "Orphanet:3417", "SCTID:733110004", "UMLS:C0796192" ], "synonyms": [ "van den Bosch syndrome", "mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion." }, "child_count": 0, "reference_id": "MONDO:0010754" }, { "id": 11899, "label": "Wildervanck syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3287, 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005569", "ICD9:759.89", "MEDGEN:120518", "MedDRA:10069402", "NORD:1853", "OMIM:314600", "Orphanet:3456", "SCTID:79665007", "UMLS:C0265239" ], "synonyms": [ "Cervicooculoacoustic syndrome", "Wildervanck syndrome", "COA syndrome", "cervico-oculo-acoustic dysplasia", "cervico-oculo-acoustic syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness." }, "child_count": 0, "reference_id": "MONDO:0010759" }, { "id": 11924, "label": "Kearns-Sayre syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6902, 16878, 16918, 19748, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12934", "GARD:0006817", "ICD10CM:H49.81", "MEDGEN:9618", "MESH:D007625", "MedDRA:10048804", "NANDO:1201064", "NANDO:2200529", "NCIT:C84798", "NORD:1323", "OMIM:530000", "Orphanet:480", "SCTID:25792000", "UMLS:C0022541", "icd11.foundation:399100745" ], "synonyms": [ "Kearns Sayre Syndrome", "Kearns-Sayre syndrome", "CPEO with myopathy", "CPEO with ragged red fibers", "CPEO with ragged red fibres", "CPEO with ragged-Red fibers", "CPEO with ragged-Red fibres", "KSS", "chronic progressive external ophthalmoplegia with myopathy", "mitochondrial Cytopathy", "oculocraniosomatic syndrome", "ophthalmoplegia plus syndrome", "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy", "ophthalmoplegia, progressive external, with ragged red fibers", "ophthalmoplegia, progressive external, with ragged red fibres", "ophthalmoplegia, progressive external, with ragged-Red fibers", "ophthalmoplegia, progressive external, with ragged-Red fibres", "ophthalmoplegia-plus syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." }, "child_count": 0, "reference_id": "MONDO:0010787" }, { "id": 11926, "label": "MELAS syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6459 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3687", "GARD:0007009", "ICD10CM:E88.41", "ICD9:277.87", "MEDGEN:56485", "MESH:D017241", "MedDRA:10053872", "NANDO:1200176", "NANDO:2200525", "NCIT:C84885", "OMIM:540000", "Orphanet:550", "SCTID:39925003", "UMLS:C0162671" ], "synonyms": [ "MELAS syndrome", "mitochondrial encephalomyopathy, lactic acidosis and stroke", "mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes", "mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes", "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes", "MELAS", "mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations." }, "child_count": 20, "reference_id": "MONDO:0010789" }, { "id": 11927, "label": "MERRF syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4427, 6459, 19726 ], "type_id": 0, "properties": { "xrefs": [ "DOID:310", "GARD:0007144", "ICD10CM:E88.42", "ICD9:277.87", "MEDGEN:56486", "MESH:D017243", "MedDRA:10069825", "NANDO:1200177", "NANDO:2200526", "NCIT:C84889", "NORD:1441", "OMIM:545000", "Orphanet:551", "SCTID:68448003", "UMLS:C0162672" ], "synonyms": [ "Fukuhara syndrome", "MERRF", "MERRF syndrome", "myoclonic epilepsy - ragged red fibres", "myoclonus epilepsy and ragged red fibres", "myoclonus epilepsy associated with ragged-red fibers", "myoclonus epilepsy associated with ragged-red fibres", "myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)", "myoclonus with epilepsy and with ragged Red fibres", "myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)", "myoclonic epilepsy associated with ragged red fibers", "myoclonic epilepsy associated with ragged red fibres", "myoclonic epilepsy associated with ragged-RED fibers", "myoclonic epilepsy associated with ragged-RED fibres", "myoclonic epilepsy with ragged red fibers", "myoclonic epilepsy with ragged red fibres", "myoencephalopathy ragged-red fiber disease", "myoencephalopathy ragged-red fibre disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy." }, "child_count": 0, "reference_id": "MONDO:0010790" }, { "id": 11934, "label": "Pearson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060067", "GARD:0007343", "ICD9:277.87", "MEDGEN:87459", "MedDRA:10062941", "NCIT:C115326", "OMIM:557000", "Orphanet:699", "SCTID:237985009", "UMLS:C0342784", "icd11.foundation:452521132" ], "synonyms": [ "Pearson marrow-pancreas syndrome", "Pearson's marrow/pancreas syndrome", "Pearson's syndrome", "sideroblastic Anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction", "sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction", "sideroblastic anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)", "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction." }, "child_count": 0, "reference_id": "MONDO:0010797" }, { "id": 11935, "label": "proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004532", "MEDGEN:463309", "MESH:C564014", "OMIM:560000", "Orphanet:3390", "UMLS:C3151959" ], "synonyms": [ "proximal tubulopathy, diabetes mellitus and cerebellar ataxia", "renal tubulopathy, diabetes mellitus, and cerebellar ataxia", "renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus." }, "child_count": 0, "reference_id": "MONDO:0010798" }, { "id": 11939, "label": "pancreatic hypoplasia-diabetes-congenital heart disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111733", "GARD:0000347", "MEDGEN:444022", "MESH:C564011", "OMIM:600001", "Orphanet:2255", "SCTID:722206009", "UMLS:C2931296" ], "synonyms": [ "Yorifuji-Okuno syndrome", "pancreatic hypoplasia-diabetes-congenital heart disease syndrome", "HDCA", "Yorifuji Okuno syndrome", "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease", "heart defects, congenital, and other congenital anomalies", "hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease", "pancreatic agenesis and congenital heart defects", "pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)." }, "child_count": 0, "reference_id": "MONDO:0010802" }, { "id": 11950, "label": "chondrodysplasia-pseudohermaphroditism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060644", "GARD:0016565", "MEDGEN:333149", "MESH:C536123", "OMIM:600092", "Orphanet:1422", "SCTID:720851007", "UMLS:C1838654" ], "synonyms": [ "Nivelon-Nivelon-Mabille syndrome", "chondrodysplasia-disorder of sex development syndrome", "chondrodysplasia-pseudohermaphroditism syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0010814" }, { "id": 11952, "label": "Qazi Markouizos syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050740", "GARD:0000371", "MEDGEN:443987", "MESH:C536259", "OMIM:600096", "Orphanet:3010", "SCTID:721887007", "UMLS:C2931142" ], "synonyms": [ "Dysharmonic skeletal maturation - muscular fiber disproportion", "Dysharmonic skeletal maturation-muscular fiber disproportion syndrome", "Dysharmonic skeletal maturation-muscular fibre disproportion syndrome", "Qazi-Markouizos syndrome", "Dysharmonic skeletal maturation muscular fiber disproportion", "Dysharmonic skeletal maturation muscular fibre disproportion", "PUERTO RICAN infant hypotonia syndrome", "Puertorican infant hypotonia syndrome", "hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fiber type disproportion", "hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Qazi-Markouizos syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys." }, "child_count": 0, "reference_id": "MONDO:0010816" }, { "id": 11957, "label": "familial developmental dysphasia", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16807 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001823", "MEDGEN:374015", "MESH:C563997", "OMIM:600117", "Orphanet:1799", "SCTID:721220004", "UMLS:C1838630" ], "synonyms": [ "Billard-Toutain-Maheut syndrome", "FOXP2-associated dysphasia", "developmental dysphasia familial", "developmental language disorder", "dysphasia, familial developmental", "specific language impairment" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal." }, "child_count": 0, "reference_id": "MONDO:0010821" }, { "id": 11961, "label": "atrioventricular defect-blepharophimosis-radial and anal defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6967, 16089, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002742", "MEDGEN:374010", "MESH:C563994", "OMIM:600123", "Orphanet:1352", "UMLS:C1838606" ], "synonyms": [ "Houlston-Ironton-Temple syndrome", "atrioventricular septal defect with blepharophimosis and anal and radial defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects." }, "child_count": 0, "reference_id": "MONDO:0010825" }, { "id": 12013, "label": "CODAS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 17206 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111274", "GARD:0001418", "MEDGEN:333031", "MESH:C536434", "NCIT:C126744", "OMIM:600373", "Orphanet:1458", "SCTID:717772000", "UMLS:C1838180" ], "synonyms": [ "CODAS syndrome", "cerebrooculodentoauriculoskeletal syndrome", "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome", "cerebral, ocular, dental, auricular, and skeletal syndrome", "cerebro-oculo-dento-auriculo-skeletal syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies." }, "child_count": 0, "reference_id": "MONDO:0010879" }, { "id": 12025, "label": "lethal hemolytic anemia-genital anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5550 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002642", "MEDGEN:333019", "MESH:C563935", "OMIM:600461", "Orphanet:1046", "UMLS:C1838120" ], "synonyms": [ "water-West syndrome", "hemolytic anaemia lethal congenital nonspherocytic with genital and other abnormalities", "hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities", "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin." }, "child_count": 0, "reference_id": "MONDO:0010891" }, { "id": 12034, "label": "HEC syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002620", "MEDGEN:331549", "MESH:C535855", "OMIM:600559", "Orphanet:2119", "SCTID:721015008", "UMLS:C1833607" ], "synonyms": [ "HEC syndrome", "hydrocephalus-endocardial fibroelastosis-cataract syndrome", "communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts", "hydrocephalus, endocardial fibroelastosis, and cataracts" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "HEC syndrome is characterized by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed." }, "child_count": 0, "reference_id": "MONDO:0010901" }, { "id": 12063, "label": "anophthalmia plus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000719", "MEDGEN:322166", "MESH:C537767", "OMIM:600776", "Orphanet:1104", "SCTID:720496006", "UMLS:C1833339" ], "synonyms": [ "Fryns microphthalmia syndrome", "microphthalmia with facial clefting", "Fryns anophthalmia syndrome", "Leichtman Wood Rohn syndrome", "anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder", "anophthalmia-plus syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0010930" }, { "id": 12100, "label": "infundibulopelvic stenosis-multicystic kidney syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003005", "MEDGEN:318751", "MESH:C535528", "OMIM:600989", "Orphanet:1849", "SCTID:725905005", "UMLS:C1832949" ], "synonyms": [ "infundibulopelvic dysgenesis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging." }, "child_count": 0, "reference_id": "MONDO:0010971" }, { "id": 12119, "label": "Ayme-Gripp syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111688", "GARD:0024765", "MEDGEN:371416", "MESH:C563390", "OMIM:601088", "Orphanet:477668", "UMLS:C1832812" ], "synonyms": [ "Ayme-Gripp syndrome", "AYGRP", "AYME-Gripp syndrome", "Aymé-Gripp syndrome", "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability", "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0010992" }, { "id": 12129, "label": "dilated cardiomyopathy 1E", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24709 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110433", "GARD:0005644", "MEDGEN:331341", "MESH:C563384", "OMIM:601154", "UMLS:C1832680" ], "synonyms": [ "CDCD2", "CMD1E", "SCN5A familial isolated dilated cardiomyopathy", "cardiomyopathy dilated with conduction defect type 2", "cardiomyopathy, dilated, 1E", "cardiomyopathy, dilated, type 1E", "cardiomyopathy, dilated, with conduction defect 2", "cardiomyopathy, dilated, with conduction disorder and arrhythmia", "dilated cardiomyopathy type 1E", "familial isolated dilated cardiomyopathy caused by mutation in SCN5A" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene." }, "child_count": 0, "reference_id": "MONDO:0011003" }, { "id": 12133, "label": "diaphragmatic defect-limb deficiency-skull defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002397", "MEDGEN:371377", "MESH:C563380", "OMIM:601163", "Orphanet:2141", "SCTID:721095007", "UMLS:C1832668" ], "synonyms": [ "froster-Huch syndrome", "diaphragmatic defect limb deficiency skull defect", "diaphragmatic defects, limb deficiencies, and ossification defects of skull", "froster syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four fetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies." }, "child_count": 0, "reference_id": "MONDO:0011007" }, { "id": 12137, "label": "skeletal dysplasia-epilepsy-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000350", "MEDGEN:208660", "MESH:C537625", "OMIM:601187", "Orphanet:1858", "SCTID:715428003", "UMLS:C0796046" ], "synonyms": [ "Gurrieri-Sammito-Bellussi syndrome", "GURRIERI syndrome", "intellectual disability, epilepsy, short stature and skeletal dysplasia", "mental retardation, epilepsy, short stature and skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0011011" }, { "id": 12148, "label": "Potocki-Shaffer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 17316 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:34", "DOID:0111687", "GARD:0009762", "ICD9:758.39", "MEDGEN:318657", "MESH:C538356", "NCIT:C75456", "OMIM:601224", "Orphanet:52022", "SCTID:702346005", "UMLS:C1832588", "icd11.foundation:1587521558" ], "synonyms": [ "11p11.2 deletion", "Potocki-Shaffer syndrome", "proximal 11p deletion syndrome", "Defect11 syndrome", "PSS", "chromosome 11P11.2 deletion syndrome", "deletion of chromosome 11p11.2", "proximal 11P deletion syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)." }, "child_count": 0, "reference_id": "MONDO:0011022" }, { "id": 12178, "label": "amelia cleft lip palate hydrocephalus iris coloboma", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:321957", "MESH:C536713", "OMIM:601357", "UMLS:C1832434" ], "synonyms": [ "amelia cleft lip palate hydrocephalus iris coloboma", "ACLH", "bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele", "brachial AMELIA, cleft LIP, and holoprosencephaly", "brachial amelia, forebrain defects and facial clefts", "brachial amelia, forebrain defects, and Facial clefts" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0011052" }, { "id": 12225, "label": "human HOXA1 syndromes", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050682", "GARD:0008333", "MEDGEN:330410", "OMIM:601536", "Orphanet:69739", "SCTID:720518006", "UMLS:C1832215" ], "synonyms": [ "ABSD", "Athabascan brainstem dysgenesis syndrome", "Athabaskan brainstem dysgenesis syndrome", "Navajo brainstem syndrome", "ABDS", "Athabaskan brainstem dysgenesis", "BSAS", "Bosley Salih Alorainy syndrome", "Bosley-Salih-Alorainy syndrome", "Human HOXA1 syndromes" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive." }, "child_count": 2, "reference_id": "MONDO:0011099" }, { "id": 12235, "label": "dyssegmental dysplasia-glaucoma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:330382", "MESH:C563290", "OMIM:601561", "Orphanet:1804", "UMLS:C1832111" ], "synonyms": [ "dyssegmental dysplasia and glaucoma", "dyssegmental dysplasia with glaucoma" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children." }, "child_count": 0, "reference_id": "MONDO:0011110" }, { "id": 12240, "label": "lung agenesis-heart defect-thumb anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6815, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003378", "MEDGEN:477585", "MESH:C535708", "OMIM:601612", "Orphanet:1120", "SCTID:721976003", "UMLS:C3275954" ], "synonyms": [ "Mardini-Nyhan syndrome", "LACHT", "Manouvrier syndrome", "Mardini-Nyhan association", "lung agenesis heart defect thumb anomalies", "lung agenesis, congenital heart defects, and thumb anomalies syndrome", "pulmonary aplasia and triphalangia of the thumb" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." }, "child_count": 0, "reference_id": "MONDO:0011116" }, { "id": 12268, "label": "tetrasomy 12p", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17349, 19480 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008421", "ICD9:758.81", "MEDGEN:120540", "MESH:C538105", "NCIT:C75458", "NORD:1546", "OMIM:601803", "Orphanet:884", "SCTID:9527009", "UMLS:C0265449" ], "synonyms": [ "Isochromosome 12p mosaicism", "Isochromosome 12p syndrome", "Pallister Killian Mosaic Syndrome", "Pallister-Killian syndrome", "Pallister-Killian syndrome, Somatic mosaicism", "tetrasomy type 12p", "Hexasomy 12P, Mosaic", "Isochromosome 12P syndrome", "Killian Teschler-Nicola syndrome", "Killian syndrome", "PKS", "Pallister Killian syndrome", "Pallister mosaic syndrome", "Pallister-Killian mosaic syndrome", "Teschler-Nicola Killian syndrome", "chromosome 12, Isochromosome 12p syndrome", "tetrasomy 12P, Mosaic" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p." }, "child_count": 0, "reference_id": "MONDO:0011146" }, { "id": 12269, "label": "chromosome 18q deletion syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 17305 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060407", "GARD:0020837", "ICD9:758.39", "MEDGEN:96605", "MESH:C536580", "NANDO:1200579", "NANDO:2201291", "NCIT:C84522", "NORD:946", "OMIM:601808", "Orphanet:1600", "Orphanet:262146", "SCTID:270889005", "UMLS:C0432443", "icd11.foundation:1121828795" ], "synonyms": [ "18Q syndrome", "18q deletion syndrome", "18q-syndrome", "Chromosome 18q- Syndrome", "chromosome 18q deletion syndrome", "deletion 18q", "deletion 18q syndrome", "monosomy type 18q", "partial deletion of chromosome 18q", "partial deletion of the long arm of chromosome 18", "partial deletion of the long arm of chromosome type 18", "partial monosomy of chromosome 18q", "partial monosomy of the long arm of chromosome 18", "proximal 18q deletion", "proximal 18q deletion syndrome", "proximal 18q-", "proximal chromosome 18q deletion syndrome", "18Q- syndrome", "chromosome 18Q- syndrome", "chromosome 18q deletion", "monosomy 18q syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." }, "child_count": 4, "reference_id": "MONDO:0011147" }, { "id": 12288, "label": "lymphedema-atrial septal defects-facial changes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000284", "MEDGEN:383042", "MESH:C535539", "MESH:C567398", "OMIM:601927", "Orphanet:86915", "SCTID:721978002", "UMLS:C2677167" ], "synonyms": [ "Irons-Bhan syndrome", "Irons-Bianchi syndrome", "Irons Bhan syndrome", "autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes", "lymphedema, CARDIAC septal defects, and characteristic facies", "lymphedema, atrial septal defect, and characteristic facial changes", "lymphedema, atrial septal defect, and characteristic facies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0011166" }, { "id": 12300, "label": "infantile convulsions and choreoathetosis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16273, 16428, 24281 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008553", "MEDGEN:356123", "MESH:C535522", "NCIT:C126650", "OMIM:602066", "Orphanet:31709", "SCTID:715534008", "UMLS:C1865926" ], "synonyms": [ "ICCA syndrome", "PKD/IC", "infantile convulsions and choreoathetosis", "paroxysmal kinesigenic dyskinesia and infantile convulsions", "ICCA", "Icca syndrome", "convulsions, familial infantile, with paroxysmal choreoathetosis", "convulsions, infantile, with paroxysmal choreoathetosis, familial", "infantile convulsions and paroxysmal choreoathetosis, familial", "paroxysmal kinesigenic dyskinesia with infantile convulsions" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence." }, "child_count": 0, "reference_id": "MONDO:0011178" }, { "id": 12324, "label": "RHYNS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16626, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009681", "MEDGEN:356371", "MESH:C537612", "OMIM:602152", "Orphanet:140976", "SCTID:723999009", "UMLS:C1865794" ], "synonyms": [ "RHYNS syndrome", "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome", "retinitis pigmentosa syndrome", "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia." }, "child_count": 0, "reference_id": "MONDO:0011202" }, { "id": 12325, "label": "Pierre Robin sequence with pectus excavatum and rib and scapular anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010090", "MEDGEN:355549", "MESH:C535775", "OMIM:602196", "UMLS:C1865783" ], "synonyms": [ "Pierre Robin sequence with pectus excavatum and rib and scapular anomalies", "campomelic dysplasia, mild", "skeletal dysplasia related to campomelic dysplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0011203" }, { "id": 12359, "label": "colobomatous macrophthalmia-microcornea syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017844", "MEDGEN:400728", "MESH:C566533", "OMIM:602499", "Orphanet:468672", "UMLS:C1865286" ], "synonyms": [ "MACOM syndrome", "MACOM", "macrophthalmia, colobomatous, with microcornea" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0011239" }, { "id": 12364, "label": "Marshall-Smith syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 18360, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050858", "GARD:0006985", "ICD9:759.89", "MEDGEN:75551", "MESH:C536026", "OMIM:602535", "Orphanet:561", "SCTID:73284007", "UMLS:C0265211", "icd11.foundation:417951600" ], "synonyms": [ "Marshall-Smith syndrome", "accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome", "MRSHSS", "Marshall-SMITH syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth." }, "child_count": 0, "reference_id": "MONDO:0011244" }, { "id": 12368, "label": "distal monosomy 13q", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17330 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016571", "MEDGEN:355405", "MESH:C566526", "OMIM:602553", "Orphanet:1590", "SCTID:763527007", "UMLS:C1865208" ], "synonyms": [ "13q32 deletion", "deletion 13q32", "distal 13q deletion", "distal monosomy type 13q", "monosomy 13q32", "telomeric deletion13q", "anal atresia, hypospadias, and penoscrotal inversion" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported." }, "child_count": 0, "reference_id": "MONDO:0011248" }, { "id": 12377, "label": "MPI-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7156, 17973, 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080554", "GARD:0009830", "ICD9:277.6", "MEDGEN:400692", "MESH:C535740", "OMIM:602579", "Orphanet:79319", "SCTID:124668009", "UMLS:C1865145", "icd11.foundation:803079134" ], "synonyms": [ "CDG syndrome type IB", "CDG-Ib", "CDG1B", "MPI-CDG", "carbohydrate deficient glycoprotein syndrome type IB", "congenital disorder of glycosylation type 1b", "congenital disorder of glycosylation type IB", "phosphomannose isomerase deficiency", "CDG 1B", "CDG Ib", "CDG gastrointestinal type", "CDG, gastrointestinal type", "MPI-CDG (CDG-Ib)", "Mannosephosphate isomerase deficiency", "Mpi deficiency", "Protein-losing enteropathy-hepatic fibrosis syndrome", "SLSJ syndrome", "Saguenay Lac Saint Jean syndrome", "Saguenay-Lac Saint-Jean syndrome", "Slsj syndrome", "carbohydrate-deficient glycoprotein syndrome type 1B", "congenital disorder of glycosylation, type IB" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)." }, "child_count": 0, "reference_id": "MONDO:0011257" }, { "id": 12382, "label": "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16089, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000216", "MEDGEN:355918", "MESH:C535876", "OMIM:602612", "Orphanet:1323", "SCTID:715986009", "UMLS:C1865133" ], "synonyms": [ "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye", "Rozin hertz Goodman syndrome", "camptodactyly, joint contractures, facial skeletal defects" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline)." }, "child_count": 0, "reference_id": "MONDO:0011262" }, { "id": 12434, "label": "radioulnar synostosis-microcephaly-scoliosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000394", "MEDGEN:400399", "OMIM:603438", "Orphanet:3268", "UMLS:C1863881" ], "synonyms": [ "Giuffre-Tsukahara syndrome", "Giuffré-Tsukahara syndrome", "Tsukahara syndrome", "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability", "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation", "radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability", "radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0011320" }, { "id": 12475, "label": "blepharophimosis - intellectual disability syndrome, SBBYS type", "isLeaf": true, "isRoot": false, "parents": [ 3111, 4370, 5714, 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060290", "GARD:0016618", "ICD9:759.89", "MEDGEN:350209", "MESH:C536717", "NANDO:1200681", "NANDO:2200982", "OMIM:603736", "Orphanet:3047", "SCTID:699298009", "UMLS:C1863557" ], "synonyms": [ "Ohdo syndrome, SBBYS variant", "SBBYSS", "SBBYSS syndrome", "Say-Barber-Biesecker-Young-Simpson syndrome", "blepharophimosis - intellectual disability syndrome, SBBYS type", "hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome", "Young-Simpson syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0011365" }, { "id": 12546, "label": "complex regional pain syndrome type 1", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19203 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1811", "EFO:1001147", "GARD:0016928", "ICD10CM:G90.5", "ICD9:337.2", "ICD9:337.20", "ICD9:337.21", "ICD9:337.29", "ICD9:733.7", "MEDGEN:11159", "MESH:D012019", "MedDRA:10038249", "MedDRA:10064334", "NCIT:C85042", "OMIM:604335", "Orphanet:99995", "SCTID:50642008", "UMLS:C0034931" ], "synonyms": [ "Algodystrophy", "CRPS I", "CRPS1", "Complex regional pain syndrome I", "RND", "RSDS", "complex regional pain syndrome type 1", "reflex neurovascular dystrophy", "reflex sympathetic dystrophy", "reflex sympathetic dystrophy syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb." }, "child_count": 0, "reference_id": "MONDO:0011441" }, { "id": 12631, "label": "temtamy preaxial brachydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6893, 7611, 16168, 16198, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050814", "GARD:0009679", "MEDGEN:381425", "MESH:C536958", "OMIM:605282", "Orphanet:363417", "UMLS:C1854466" ], "synonyms": [ "preaxial brachydactyly syndrome, TEMTAMY type", "temtamy preaxial brachydactyly syndrome", "TEMTAMY preaxial brachydactyly syndrome", "TPBS", "intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies", "mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies", "preaxial brachydactyly syndrome, Temtamy type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene." }, "child_count": 0, "reference_id": "MONDO:0011533" }, { "id": 12731, "label": "Diamond-Blackfan anemia 2", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16139 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111885", "GARD:0008283", "MEDGEN:344104", "MESH:C536130", "OMIM:606129", "UMLS:C1853666" ], "synonyms": [ "Diamond-Blackfan anemia 2", "DBA2", "Diamond-Blackfan Anemia, 2", "anaemia Diamond-Blackfan 2", "anemia Diamond-Blackfan 2" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011636" }, { "id": 12735, "label": "genitopatellar syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010994", "ICD9:759.89", "MEDGEN:381208", "MESH:C565255", "OMIM:606170", "Orphanet:85201", "SCTID:702367005", "UMLS:C1853566" ], "synonyms": [ "absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome", "genitopatellar syndrome", "GENITOPATELLAR syndrome", "GTPTS", "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability", "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency." }, "child_count": 0, "reference_id": "MONDO:0011640" }, { "id": 12744, "label": "Phelan-McDermid syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:20", "DOID:0080354", "GARD:0010130", "ICD9:758.39", "MEDGEN:339994", "MESH:C536801", "NCIT:C157124", "NORD:1573", "OMIM:606232", "Orphanet:48652", "SCTID:699310000", "UMLS:C1853490" ], "synonyms": [ "PHMDS", "Phelan McDermid syndrome", "Phelan-McDermid syndrome", "22q13 deletion", "monosomy 22q13", "monosomy type 22q13", "22q13.3 deletion syndrome", "chromosome 22Q13.3 deletion syndrome", "deletion 22q13.3 syndrome", "telomeric 22Q13 monosomy syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene." }, "child_count": 4, "reference_id": "MONDO:0011652" }, { "id": 12759, "label": "hypotonia-cystinuria syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5908, 17309, 19084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060858", "GARD:0016998", "MEDGEN:341133", "MESH:C564710", "OMIM:606407", "Orphanet:163690", "Orphanet:238517", "SCTID:721173005", "UMLS:C1848030", "icd11.foundation:1742079513", "icd11.foundation:1852649756" ], "synonyms": [ "HCS", "cystinuria with mitochondrial disease", "hypotonia-cystinuria syndrome", "hypotonia-cystinuria syndrome type 1", "hypotonia-cystinuria type 1 syndrome", "homozygous 2P16 deletion syndrome", "homozygous 2P16 deletion syndrome, formerly", "homozygous 2P21 deletion syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." }, "child_count": 4, "reference_id": "MONDO:0011669" }, { "id": 12776, "label": "DNA ligase IV deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18070, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060021", "GARD:0015000", "MEDGEN:339855", "MESH:C564694", "NCIT:C122657", "OMIM:606593", "Orphanet:99812", "SCTID:724177005", "UMLS:C1847827" ], "synonyms": [ "DNA ligase IV deficiency", "LIG4 syndrome", "ligase 4 syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." }, "child_count": 0, "reference_id": "MONDO:0011686" }, { "id": 12844, "label": "Hurler syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3787, 4370, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111390", "GARD:0012559", "MEDGEN:39698", "NANDO:1200094", "NANDO:2201168", "NCIT:C61261", "OMIM:607014", "Orphanet:93473", "SCTID:65327002", "UMLS:C0086795" ], "synonyms": [ "Hurler disease", "Hurler syndrome", "MPS I H", "MPS1H", "MPSIH", "mucopolysaccharidosis type 1H", "mucopolysaccharidosis type IH", "MPS1-H", "mucopolysaccharidosis IH" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." }, "child_count": 0, "reference_id": "MONDO:0011758" }, { "id": 12845, "label": "Hurler-Scheie syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3787, 4370, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111389", "GARD:0012560", "ICD10CM:E76.02", "MEDGEN:88566", "MedDRA:10056916", "NANDO:1200096", "NANDO:2201170", "NCIT:C122782", "OMIM:607015", "Orphanet:93476", "SCTID:26745009", "UMLS:C0086431" ], "synonyms": [ "Hurler-Scheie syndrome", "MPS I H-S", "MPS1H/S", "MPSIH/S", "mucopolysaccharidosis type 1H/S", "mucopolysaccharidosis type IH/S", "mucopolysaccharidosis, mps-I-s", "Hurler–Scheie syndrome", "MPS1-HS", "Scheie disease mps type 1s", "Scheie's syndrome", "l-iduronidase deficiency, Scheie type", "mucopolysaccharidosis IH/S", "mucopolysaccharidosis type I mild form", "mucopolysaccharidosis type I-S", "mucopolysaccharidosis type Ih/S" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." }, "child_count": 0, "reference_id": "MONDO:0011759" }, { "id": 12846, "label": "Scheie syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3787, 4370, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060222", "GARD:0012561", "MEDGEN:6453", "NANDO:1200095", "NANDO:2201169", "NCIT:C61265", "OMIM:607016", "Orphanet:93474", "SCTID:73123008", "UMLS:C0026708" ], "synonyms": [ "MPS I S", "MPS1S", "MPSIS", "Scheie syndrome", "mucopolysaccharidosis type 1S", "mucopolysaccharidosis type IS", "MPS V", "MPS V, formerly", "MPS1-S", "MPS5, formerly", "mucopolysaccharidosis Is", "mucopolysaccharidosis type V, formerly" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." }, "child_count": 0, "reference_id": "MONDO:0011760" }, { "id": 12893, "label": "Duane-radial ray syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060747", "GARD:0009182", "ICD9:759.89", "MEDGEN:301647", "OMIM:607323", "Orphanet:93293", "Orphanet:959", "SCTID:699867001", "SCTID:720415006", "UMLS:C1623209" ], "synonyms": [ "DR syndrome", "DRRS", "Duane anomaly with radial ray abnormalities and deafness", "Duane-radial ray syndrome", "Okihiro syndrome", "acro-renal-ocular syndrome", "Duane anomaly with radial abnormalities and deafness" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant." }, "child_count": 10, "reference_id": "MONDO:0011812" }, { "id": 12930, "label": "psoriatic arthritis", "isLeaf": false, "isRoot": false, "parents": [ 4370, 9682 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9008", "EFO:0003778", "ICD10CM:L40.5", "ICD9:696.0", "MEDGEN:2077", "MESH:D015535", "NANDO:2201059", "NCIT:C61277", "Orphanet:40050", "SCTID:156370009", "UMLS:C0003872", "icd11.foundation:868183264" ], "synonyms": [ "arthritis psoriatica", "arthropathic psoriasis", "psoriatic arthritis, susceptibility to", "psoriatic arthritis, susceptibility to, 1", "susceptibility to psoriatic arthritis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Joint inflammation associated with psoriasis." }, "child_count": 2, "reference_id": "MONDO:0011849" }, { "id": 12953, "label": "neonatal ichthyosis-sclerosing cholangitis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16624, 18642 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010583", "MEDGEN:334382", "MESH:C564365", "OMIM:607626", "Orphanet:59303", "SCTID:724278007", "UMLS:C1843355" ], "synonyms": [ "IHSC", "NISCH syndrome", "ichthyosis-hypotrichosis-sclerosing cholangitis syndrome", "neonatal ichthyosis-sclerosing cholangitis syndrome", "ILVASC", "Ilvasc", "Nisch syndrome", "ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis", "ichthyosis-sclerosing cholangitis syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis." }, "child_count": 0, "reference_id": "MONDO:0011874" }, { "id": 12959, "label": "skin fragility-woolly hair-palmoplantar keratoderma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 17917 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005231", "MEDGEN:1659950", "MESH:C564359", "OMIM:607655", "Orphanet:293165", "UMLS:C4755263" ], "synonyms": [ "skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome", "SFWHS", "skin fragility woolly hair syndrome", "skin fragility wooly hair syndrome", "skin fragility-woolly hair syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0011882" }, { "id": 12962, "label": "tubulointerstitial nephritis and uveitis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6948 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009252", "MEDGEN:334715", "MESH:C536922", "MedDRA:10069034", "MedDRA:10069039", "NCIT:C123021", "OMIM:607665", "Orphanet:91500", "UMLS:C1843273" ], "synonyms": [ "Dobrin syndrome", "TINU syndrome", "Tubulointerstitial nephritis and uveitis", "acute tubulointerstitial nephritis and uveitis syndrome", "TINU", "TUBULOINTERSTITIAL nephritis with uveitis", "acute Tubulointerstitial nephritis" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An autoimmune disorder comprising tubulointerstitial nephritis and uveitis." }, "child_count": 0, "reference_id": "MONDO:0011885" }, { "id": 13002, "label": "caudal duplication", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6151 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001164", "MEDGEN:335822", "MESH:C564315", "OMIM:607864", "Orphanet:1756", "SCTID:71464000", "UMLS:C1842884", "icd11.foundation:1949559803" ], "synonyms": [ "dipygus", "split notochord syndrome", "caudal DUPLICATION anomaly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." }, "child_count": 0, "reference_id": "MONDO:0011928" }, { "id": 13031, "label": "sweet syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7203, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080746", "GARD:0000521", "ICD9:702.8", "MEDGEN:43097", "MESH:D016463", "MedDRA:10000748", "NCIT:C85177", "NORD:1749", "OMIM:608068", "Orphanet:3243", "SCTID:84625002", "UMLS:C0085077", "icd11.foundation:195212152" ], "synonyms": [ "acute febrile neutrophilic dermatosis", "sweet syndrome", "Afnd", "Gomm button disease", "Gomm-button disease", "neutrophilic dermatosis, acute febrile" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis." }, "child_count": 0, "reference_id": "MONDO:0011959" }, { "id": 13155, "label": "ichthyosis prematurity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 5714, 23261 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009886", "MEDGEN:324839", "MESH:C536271", "NCIT:C62590", "OMIM:608649", "Orphanet:88621", "SCTID:12381000132107", "UMLS:C1837610" ], "synonyms": [ "IPS", "congenital ichthyosis type 4", "ichthyosis prematurity syndrome", "idiopathic pneumonia syndrome", "ichthyosis congenita 4", "ichthyosis congenita IV", "ichthyosis-prematurity syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy." }, "child_count": 0, "reference_id": "MONDO:0012089" }, { "id": 13227, "label": "Meacham syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003432", "MEDGEN:373234", "MESH:C538162", "OMIM:608978", "Orphanet:3097", "SCTID:722461004", "UMLS:C1837026", "icd11.foundation:1307620543" ], "synonyms": [ "Meacham syndrome", "Meacham-Winn-Culler syndrome", "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome", "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype", "Meacham Winn Culler syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." }, "child_count": 0, "reference_id": "MONDO:0012164" }, { "id": 13228, "label": "BNAR syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2727, 4370, 16089, 18718 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010595", "MEDGEN:413305", "MESH:C567672", "OMIM:608980", "Orphanet:217266", "SCTID:717940006", "UMLS:C2750433" ], "synonyms": [ "bifid nose with or without anorectal and renal anomalies", "BNAR", "bifid NOSE with or without anorectal and renal anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome." }, "child_count": 0, "reference_id": "MONDO:0012165" }, { "id": 13260, "label": "PCWH syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090111", "GARD:0017004", "MEDGEN:373160", "MESH:C563789", "NANDO:1200586", "NANDO:2201298", "OMIM:609136", "Orphanet:163746", "UMLS:C1836727" ], "synonyms": [ "PCWH", "WS4 plus", "neurologic Waardenburg-Shah syndrome", "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease", "Waardenburg-Shah syndrome, neurologic variant", "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy." }, "child_count": 0, "reference_id": "MONDO:0012198" }, { "id": 13277, "label": "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19084, 19769, 23292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070531", "GARD:0017632", "MEDGEN:814203", "MESH:C563774", "OMIM:609218", "Orphanet:397618", "UMLS:C3807873" ], "synonyms": [ "FHONDA syndrome", "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome", "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis", "foveal hypoplasia type 2", "FVH2", "foveal hypoplasia 2", "foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism", "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0012216" }, { "id": 13302, "label": "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027054", "MEDGEN:332208", "MESH:C563745", "OMIM:609296", "Orphanet:567502", "UMLS:C1836437" ], "synonyms": [ "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations", "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome", "BILU syndrome", "Hoffman syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012243" }, { "id": 13310, "label": "MEDNIK syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17987, 19131, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060483", "GARD:0017072", "MEDGEN:322893", "MESH:C563739", "OMIM:609313", "Orphanet:171851", "SCTID:722035007", "UMLS:C1836330" ], "synonyms": [ "erythrokeratodermia variabilis 3", "erythrokeratodermia variabilis, Kamouraska type", "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia", "intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome", "MEDNIK", "intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma", "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)." }, "child_count": 0, "reference_id": "MONDO:0012251" }, { "id": 13316, "label": "Cerebrorenodigital syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015458", "MEDGEN:373053", "MESH:C563731", "OMIM:609345", "Orphanet:1396", "UMLS:C1836287" ], "synonyms": [ "CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012257" }, { "id": 13334, "label": "fetal valproate syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17143 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060471", "ICD9:759.89", "MEDGEN:65922", "MESH:C536525", "MedDRA:10016524", "NCIT:C98930", "NORD:1141", "OMIM:609442", "Orphanet:1906", "SCTID:17231009", "UMLS:C0236026", "icd11.foundation:1055155432" ], "synonyms": [ "fetal valproate syndrome", "fetal valproic acid syndrome", "FVS", "susceptibility to valproate embryopathy", "valproate embryopathy, susceptibility to", "valproic acid embryopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication)." }, "child_count": 0, "reference_id": "MONDO:0012275" }, { "id": 13338, "label": "Goldberg-Shprintzen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087, 20415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060481", "GARD:0009849", "MEDGEN:332131", "MESH:C537279", "OMIM:609460", "Orphanet:66629", "SCTID:717822006", "UMLS:C1836123", "icd11.foundation:1750921468" ], "synonyms": [ "GOSHS", "Goldberg-Shprintzen megacolon syndrome", "Goldberg-Shprintzen syndrome", "megacolon-microcephaly syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability." }, "child_count": 0, "reference_id": "MONDO:0012280" }, { "id": 13339, "label": "Al-Gazali syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6893, 16198, 18956, 24309 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010054", "MEDGEN:373020", "MESH:C536817", "OMIM:609465", "Orphanet:2725", "UMLS:C1836121" ], "synonyms": [ "Al-Gazali syndrome", "Al Gazali Al Talabani syndrome", "Al Gazali syndrome", "eye defects arachnodactyly cardiopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality." }, "child_count": 0, "reference_id": "MONDO:0012282" }, { "id": 13347, "label": "CEDNIK syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17917 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060337", "GARD:0009940", "MEDGEN:332113", "MESH:C537943", "OMIM:609528", "Orphanet:66631", "SCTID:722385008", "UMLS:C1836033" ], "synonyms": [ "CEDNIK syndrome", "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome", "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis." }, "child_count": 0, "reference_id": "MONDO:0012290" }, { "id": 13438, "label": "osteosclerosis-ichthyosis-premature ovarian failure syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009904", "MEDGEN:355875", "MESH:C536064", "OMIM:609993", "Orphanet:75325", "SCTID:722114007", "UMLS:C1864942" ], "synonyms": [ "sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome", "osteosclerosis with ichthyosis and POF", "osteosclerosis with ichthyosis and premature ovarian failure", "sclerosing dysplasia of bone with ichthyosis and premature ovarian failure" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals." }, "child_count": 0, "reference_id": "MONDO:0012387" }, { "id": 13451, "label": "cortical dysplasia-focal epilepsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16908 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090130", "GARD:0016997", "MEDGEN:413258", "MESH:C567657", "NCIT:C133743", "OMIM:610042", "Orphanet:163681", "UMLS:C2750246" ], "synonyms": [ "CDFE syndrome", "CDFES", "Pitt-Hopkins like syndrome 1", "cortical dysplasia-focal epilepsy syndrome", "PTHSL1", "Pitt-Hopkins-like syndrome 1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder." }, "child_count": 0, "reference_id": "MONDO:0012400" }, { "id": 13604, "label": "DK1-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7156, 16878, 17978, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080565", "GARD:0012393", "MEDGEN:332072", "MESH:C563666", "OMIM:610768", "Orphanet:91131", "SCTID:718712005", "UMLS:C1835849" ], "synonyms": [ "CDG syndrome type Im", "CDG-Im", "CDG1M", "DK1-CDG", "DK1-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type Im", "congenital disorder of glycosylation type 1m", "congenital disorder of glycosylation type Im", "dolichol kinase deficiency", "hypotonia and ichthyosis due to dolichol phosphate deficiency", "CDG Im", "CDGIm", "DOLK-CDG (CDG-Im)", "Dk1 deficiency", "congenital disorder of glycosylation, type Im" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity." }, "child_count": 0, "reference_id": "MONDO:0012556" }, { "id": 13621, "label": "Potocki-Lupski syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 17365 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:19", "DOID:0060853", "GARD:0010145", "MEDGEN:444010", "NCIT:C124846", "OMIM:610883", "Orphanet:1713", "SCTID:734016004", "UMLS:C2931246", "icd11.foundation:1720095972" ], "synonyms": [ "17p11.2 Duplication syndrome", "17p11.2 microduplication syndrome", "Potocki-Lupski syndrome", "Potocki-Lupski syndrome, Isolated cases", "chromosome 17p11.2 duplication syndrome", "trisomy 17p11.2", "Duplication 17p11.2 syndrome", "PTLS", "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))", "chromosome 17P11.2 Duplication syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated." }, "child_count": 0, "reference_id": "MONDO:0012574" }, { "id": 13636, "label": "Pitt-Hopkins syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 26363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060488", "GARD:0004372", "ICD9:758.5", "MEDGEN:370910", "MESH:C537403", "NCIT:C129872", "NORD:1921", "OMIM:610954", "Orphanet:2896", "SCTID:702344008", "UMLS:C1970431", "icd11.foundation:2040786134" ], "synonyms": [ "Pitt-Hopkins syndrome", "PTHS", "Pitt Hopkins syndrome", "encephalopathy, Severe epileptic, with autonomic dysfunction", "intellectual disability, Syndromal, with intermittent hyperventilation", "intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea", "mental retardation, Syndromal, with intermittent hyperventilation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." }, "child_count": 0, "reference_id": "MONDO:0012589" }, { "id": 13637, "label": "XFE progeroid syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16199 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060590", "GARD:0027814", "MEDGEN:410064", "MESH:C567043", "NCIT:C173111", "OMIM:610965", "UMLS:C1970416" ], "synonyms": [ "XFE progeroid syndrome", "XFEPS", "XPF-ERCC1 progeroid syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13." }, "child_count": 0, "reference_id": "MONDO:0012590" }, { "id": 13667, "label": "deafness-infertility syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17332 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0011911", "ICD9:758.39", "MEDGEN:370197", "MESH:C567010", "OMIM:611102", "Orphanet:94064", "SCTID:700489002", "UMLS:C1970187", "icd11.foundation:1430704280" ], "synonyms": [ "DIS", "deafness and male infertility", "deafness-infertility syndrome", "dis", "chromosome 15Q15.3 deletion syndrome", "deafness, sensorineural, and Male infertility", "sensorineural deafness and male infertility" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." }, "child_count": 0, "reference_id": "MONDO:0012621" }, { "id": 13681, "label": "COG1-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7157, 16198, 17979, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070259", "GARD:0010226", "MEDGEN:443957", "MESH:C535756", "OMIM:611209", "Orphanet:263508", "SCTID:718750004", "UMLS:C2931011" ], "synonyms": [ "CDG syndrome type IIg", "CDG-IIg", "CDG2G", "COG1-CDG", "COG1-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type IIg", "congenital disorder of glycosylation type 2g", "congenital disorder of glycosylation type IIg", "CDG 2G", "CDG IIg", "COG1-CDG (CDG-IIg)", "Cdgii/Cog1 Cerebrocostomandibular-like syndrome", "congenital disorder of glycosylation, type IIg" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0012637" }, { "id": 13766, "label": "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6736, 25047 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010889", "ICD9:758.89", "MEDGEN:382033", "MESH:C567088", "OMIM:611773", "Orphanet:73229", "SCTID:702428000", "UMLS:C2673195" ], "synonyms": [ "HANAC", "HANAC syndrome", "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps", "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome", "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." }, "child_count": 0, "reference_id": "MONDO:0012726" }, { "id": 13779, "label": "microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010300", "MEDGEN:394835", "MESH:C567512", "OMIM:611863", "Orphanet:139450", "UMLS:C2678482" ], "synonyms": [ "Balikova-Vermeesch syndrome", "microtia eye coloboma and imperforation of the nasolacrimal duct", "microtia with nasolacrimal duct imperforation and eye coloboma" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct." }, "child_count": 0, "reference_id": "MONDO:0012739" }, { "id": 13831, "label": "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17231 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080124", "GARD:0003681", "MEDGEN:1876465", "MESH:C567624", "OMIM:612073", "Orphanet:1933", "UMLS:C5980207" ], "synonyms": [ "booth-Haworth-Dilling syndrome", "mitochondrial DNA depletion syndrome 5", "mitochondrial DNA depletion syndrome type 5", "mitochondrial encephalomyopathy-aminoacidopathy syndrome", "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria", "MTDPS5", "encephalomyopathy", "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)", "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related", "mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive", "mitochondrial encephalomyopathy aminoacidopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA." }, "child_count": 0, "reference_id": "MONDO:0012791" }, { "id": 13834, "label": "ANE syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 16526, 18727 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112244", "GARD:0016987", "MEDGEN:394313", "MESH:C567425", "OMIM:612079", "Orphanet:157954", "UMLS:C2677535" ], "synonyms": [ "ANE syndrome", "alopecia-progressive neurological defect-endocrinopathy syndrome", "alopecia, neurologic defects, and endocrinopathy syndrome", "anes" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis." }, "child_count": 0, "reference_id": "MONDO:0012794" }, { "id": 14076, "label": "CLOVES syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6801, 19144, 23867, 29234 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080351", "GARD:0010939", "MEDGEN:442876", "MESH:C567863", "NCIT:C177122", "NORD:979", "OMIM:612918", "Orphanet:140944", "SCTID:719475006", "UMLS:C2752042" ], "synonyms": [ "CLOVE syndrome, somatic", "CLOVES syndrome", "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi", "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome", "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome", "CLOVE syndrome", "congenital lipomatous overgrowth - vascular malformation - epidermal nevi", "congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities", "congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly." }, "child_count": 0, "reference_id": "MONDO:0013038" }, { "id": 14120, "label": "Hirschsprung disease-ganglioneuroblastoma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002695", "MEDGEN:1683967", "MESH:C538119", "Orphanet:2151", "UMLS:C5191058" ], "synonyms": [ "Hirschsprung disease ganglioneuroblastoma", "neuroblastoma with Hirschsprung disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated." }, "child_count": 0, "reference_id": "MONDO:0013082" }, { "id": 14186, "label": "parkinsonism-dystonia, infantile", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19719, 20335 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010484", "MEDGEN:413468", "MESH:C567730", "OMIMPS:613135", "Orphanet:238455", "UMLS:C2751067" ], "synonyms": [ "IPD", "PARKINSONISM-dystonia, infantile", "PKDYS", "Parkinsonism-dystonia infantile", "dopamine transporter deficiency syndrome", "infantile Parkinsonism-dystonia", "parkinsonism-dystonia, infantile" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." }, "child_count": 9, "reference_id": "MONDO:0013150" }, { "id": 14317, "label": "alpha 1-antitrypsin deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4388, 6815 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13372", "GARD:0005784", "ICD10CM:E88.01", "ICD9:273.4", "MEDGEN:67461", "MESH:D019896", "MedDRA:10001806", "NANDO:1200755", "NANDO:2100174", "NANDO:2200611", "NCIT:C84397", "NORD:754", "OMIM:613490", "Orphanet:60", "SCTID:30188007", "UMLS:C0221757", "icd11.foundation:824872160" ], "synonyms": [ "A-1ATD", "A1AD", "AAT deficiency", "Alpha-1 Antitrypsin Deficiency", "alpha 1-antitrypsin deficiency", "deficiency in Alpa-1-proteinase inhibitor", "emphysema due to AAT deficiency", "emphysema-cirrhosis, due to AAT deficiency", "hemorrhagic diathesis due to antithrombin pittsburgh", "A1AT deficiency", "A1ATD", "AATD", "ALPHA-1-antitrypsin deficiency", "Alpha 1 antitrypsin deficiency", "Alpha-1 antitrypsin deficiency", "alpha-1-antitrypsin deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis." }, "child_count": 0, "reference_id": "MONDO:0013282" }, { "id": 14360, "label": "COG5-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7157, 17979 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070261", "GARD:0012348", "MEDGEN:462226", "OMIM:613612", "Orphanet:263487", "SCTID:721100009", "UMLS:C3150876" ], "synonyms": [ "CDG syndrome type III", "CDG-III", "CDG2I", "COG5-CDG", "COG5-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type III", "congenital disorder of glycosylation type 2i", "congenital disorder of glycosylation type III", "CDG III", "CDG syndrome type 3", "COG5-CDG (CDG-III)", "congenital disorder of glycosylation, type III" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." }, "child_count": 0, "reference_id": "MONDO:0013325" }, { "id": 14512, "label": "chromosome 13q14 deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17330 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060391", "GARD:0016570", "MEDGEN:462652", "MESH:C535484", "NCIT:C36421", "OMIM:613884", "Orphanet:1587", "UMLS:C3151302" ], "synonyms": [ "Del(13)(q14)", "chromosome 13q14 deletion syndrome", "chromosome 13q14 deletion syndrome, isolated cases", "del(13q14)", "deletion 13q14", "monosomy type 13q14", "chromosome 13Q deletion syndrome", "monosomy 13q14" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism." }, "child_count": 0, "reference_id": "MONDO:0013481" }, { "id": 14568, "label": "deafness-lymphedema-leukemia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7217, 19154, 23106 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013030", "ICD9:757.0", "MEDGEN:481294", "OMIM:614038", "Orphanet:3226", "SCTID:700057001", "UMLS:C3279664", "icd11.foundation:1818043307" ], "synonyms": [ "Emberger syndrome", "deafness-lymphedema-leukemia syndrome", "lymphedema, primary, with myelodysplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." }, "child_count": 0, "reference_id": "MONDO:0013540" }, { "id": 14683, "label": "microcephaly-capillary malformation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017354", "ICD9:759.89", "MEDGEN:481926", "OMIM:614261", "Orphanet:294016", "SCTID:703369003", "UMLS:C3280296" ], "synonyms": [ "MIC-CAP syndrome", "MIC-CM syndrome", "microcephaly-capillary malformation syndrome", "microcephaly-cutaneous capillary malformation syndrome", "MICCAP" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0013659" }, { "id": 14700, "label": "EDICT syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017349", "MEDGEN:482022", "OMIM:614303", "Orphanet:293936", "SCTID:722439009", "UMLS:C3280392" ], "synonyms": [ "EDICT syndrome", "KTCNCT", "autosomal dominant keratoconus with early-onset anterior polar cataracts", "endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome", "familial keratoconus with cataract", "EDICT", "endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome", "keratoconus with cataract", "keratoconus, familial, with early-onset anterior polar cataract" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia." }, "child_count": 0, "reference_id": "MONDO:0013678" }, { "id": 14732, "label": "peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017639", "MEDGEN:482186", "OMIM:614369", "Orphanet:397744", "UMLS:C3280556" ], "synonyms": [ "PNMHH", "peripheral neuropathy-myopathy-hoarseness-deafness syndrome", "peripheral neuropathy, myopathy, hoarseness, and hearing loss" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0013711" }, { "id": 14743, "label": "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 6875, 19709, 24672, 24677 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060797", "GARD:0018624", "MEDGEN:482274", "MESH:C535353", "OMIM:213002", "OMIM:614381", "Orphanet:85186", "UMLS:C3280644" ], "synonyms": [ "HLD8", "POLR3B leukodystrophy", "endosteal sclerosis-cerebellar hypoplasia syndrome", "leukodystrophy caused by mutation in POLR3B", "cerebellar hypoplasia with endosteal sclerosis", "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene." }, "child_count": 0, "reference_id": "MONDO:0013722" }, { "id": 14885, "label": "IMAGe syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050885", "GARD:0012312", "ICD9:759.89", "MEDGEN:337364", "NANDO:1200406", "NCIT:C130988", "OMIM:614732", "Orphanet:85173", "SCTID:702384004", "UMLS:C1846009", "icd11.foundation:1064803315" ], "synonyms": [ "IMAGe syndrome", "intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome", "intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies", "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0013873" }, { "id": 14906, "label": "short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017419", "MEDGEN:762199", "OMIM:614813", "Orphanet:314394", "UMLS:C3542022" ], "synonyms": [ "soft syndrome", "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis", "soft" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene." }, "child_count": 0, "reference_id": "MONDO:0013894" }, { "id": 15041, "label": "microcephalic primordial dwarfism, Alazami type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017468", "MEDGEN:767353", "OMIM:615071", "Orphanet:319671", "UMLS:C3554439" ], "synonyms": [ "Alazami syndrome", "ALAZS", "facial dysmorphism, intellectual disability, and primordial dwarfism" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety." }, "child_count": 0, "reference_id": "MONDO:0014031" }, { "id": 15127, "label": "intellectual disability-strabismus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081099", "GARD:0017563", "MEDGEN:1665943", "OMIM:615286", "Orphanet:363528", "UMLS:C4750838" ], "synonyms": [ "intellectual disability, autosomal recessive type 36", "mental retardation, autosomal recessive type 36", "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies", "MRT36", "intellectual disability, autosomal recessive 36", "mental retardation, autosomal recessive 36" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0014119" }, { "id": 15155, "label": "estrogen resistance syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6772, 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016548", "MEDGEN:815580", "OMIM:615363", "Orphanet:785", "SCTID:724555000", "UMLS:C3809250", "icd11.foundation:1267163286" ], "synonyms": [ "ESTRR", "estrogen insensitivity", "estrogen resistance", "oestrogen insensitivity", "oestrogen resistance" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present." }, "child_count": 0, "reference_id": "MONDO:0014148" }, { "id": 15202, "label": "Hartsfield-Bixler-Demyer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002725", "MEDGEN:335111", "MESH:C564484", "OMIM:615465", "Orphanet:2117", "SCTID:766032007", "UMLS:C1845146" ], "synonyms": [ "Hartsfield-Bixler-Demyer syndrome", "holoprosencephaly-ectrodactyly-cleft lip palate syndrome", "holoprosencephaly-ectrodactyly-cleft lip/palate syndrome", "HARTSFIELD syndrome", "HRTFDS", "holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014196" }, { "id": 15224, "label": "severe dermatitis-multiple allergies-metabolic wasting syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017594", "MEDGEN:816049", "OMIM:615508", "Orphanet:369992", "UMLS:C3809719" ], "synonyms": [ "SAM syndrome", "congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome", "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE", "EPKHE", "Sam syndrome", "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE", "severe dermatitis, multiple allergies, and metabolic wasting syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014218" }, { "id": 15225, "label": "alacrima, achalasia, and intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112321", "GARD:0012404", "MEDGEN:1640947", "OMIM:615510", "UMLS:C4706563" ], "synonyms": [ "alacrima, achalasia, and intellectual disability syndrome", "alacrima, achalasia, and mental retardation syndrome", "AAMR", "GMPPA-CDG" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014219" }, { "id": 15253, "label": "familial episodic pain syndrome with predominantly lower limb involvement", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18414 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111731", "GARD:0017619", "MEDGEN:816229", "NCIT:C125390", "OMIM:615552", "Orphanet:391392", "UMLS:C3809899" ], "synonyms": [ "episodic pain syndrome, familial, type 3", "FEPS3", "episodic pain syndrome, familial, 3" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age." }, "child_count": 0, "reference_id": "MONDO:0014247" }, { "id": 15263, "label": "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18954 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017617", "MEDGEN:816301", "OMIM:615574", "Orphanet:391376", "UMLS:C3809971" ], "synonyms": [ "asparagine synthetase deficiency", "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome", "ASNSD", "Asns deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014258" }, { "id": 15337, "label": "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017672", "MEDGEN:862676", "OMIM:615760", "Orphanet:404437", "UMLS:C4014239" ], "synonyms": [ "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome", "microcephaly, progressive, seizures, and cerebral and cerebellar atrophy", "MSCCA", "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014335" }, { "id": 15371, "label": "postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 18362, 18727, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080328", "GARD:0013349", "MEDGEN:862916", "OMIM:615849", "Orphanet:420584", "UMLS:C4014479" ], "synonyms": [ "CJS", "Culler-Jones syndrome", "Pallister-Hall syndrome 2", "Pallister-Hall syndrome 2, formerly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination." }, "child_count": 0, "reference_id": "MONDO:0014369" }, { "id": 15403, "label": "tall stature-scoliosis-macrodactyly of the great toes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070316", "GARD:0017495", "MEDGEN:863127", "OMIM:615923", "Orphanet:329191", "UMLS:C4014690" ], "synonyms": [ "tall stature-scoliosis-macrodactyly of the halluces syndrome", "ECDM", "Miura type epiphyseal chondrodysplasia", "epiphyseal chondrodysplasia, MIURA type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis." }, "child_count": 0, "reference_id": "MONDO:0014401" }, { "id": 15481, "label": "intellectual disability, autosomal dominant 29", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 23791, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070059", "GARD:0013379", "MEDGEN:863578", "NORD:1958", "OMIM:616078", "UMLS:C4015141" ], "synonyms": [ "MRD29", "SETBP1 Haploinsufficiency Disorder", "SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome", "SETBP1-related complex neurodevelopmental disorder", "autosomal dominant intellectual disability 29", "autosomal dominant mental retardation 29", "intellectual disability, autosomal dominant type 29", "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1", "mental retardation, autosomal dominant type 29", "SETBP1 disorder", "SETBP1 related developmental delay", "SETBP1-related disorder", "SETBP1-related intellectual disability", "mental retardation, autosomal dominant 29" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant complex neurodevelopmental disorder caused by haploinsufficiency and/or loss-of-function variants in the SETBP1 gene and characterized by intellectual disability, autism, speech difficulty, motor and developmental delays, seizures, hypotonia, behavior challenges, and facial dysmorphisms." }, "child_count": 0, "reference_id": "MONDO:0014482" }, { "id": 15485, "label": "intellectual disability, autosomal dominant 30", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070060", "GARD:0013136", "MEDGEN:863604", "OMIM:616083", "Orphanet:694304", "Orphanet:694308", "UMLS:C4015167" ], "synonyms": [ "MRD30", "ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome", "autosomal dominant intellectual disability 30", "intellectual disability, autosomal dominant 30", "intellectual disability, autosomal dominant type 30", "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11", "mental retardation, autosomal dominant type 30", "autosomal dominant non-syndromic intellectual disability 30", "mental retardation, autosomal dominant 30" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene." }, "child_count": 0, "reference_id": "MONDO:0014486" }, { "id": 15486, "label": "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6778, 19734 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080209", "GARD:0017586", "MEDGEN:863609", "OMIM:616084", "Orphanet:369861", "UMLS:C4015172" ], "synonyms": [ "SIFD", "SIFD syndrome", "sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay", "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." }, "child_count": 0, "reference_id": "MONDO:0014487" }, { "id": 15494, "label": "retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017730", "MEDGEN:863679", "OMIM:616108", "Orphanet:436245", "UMLS:C4015242" ], "synonyms": [ "retinal dystrophy-juvenile cataract-short stature syndrome", "RDJCSS", "retinal dystrophy, juvenile cataracts, and short stature syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014495" }, { "id": 15496, "label": "polyendocrine-polyneuropathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16526 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017787", "MEDGEN:863698", "OMIM:616113", "Orphanet:453533", "UMLS:C4015261" ], "synonyms": [ "polyendocrine-polyneuropathy syndrome", "PEPNS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014497" }, { "id": 15527, "label": "chronic atrial and intestinal dysrhythmia", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060339", "GARD:0012281", "MEDGEN:863911", "OMIM:616201", "Orphanet:435988", "SCTID:720507006", "UMLS:C4015474" ], "synonyms": [ "caid syndrome", "chronic atrial and intestinal dysrhythmia", "chronic atrial dysrhythmia-intestinal motility disorder", "Cohesinopathy affecting heart and gut rhythm", "caid", "chronic atrial and intestinal dysrhythmia syndrome", "chronic atrial intestinal dysrhythmia syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." }, "child_count": 0, "reference_id": "MONDO:0014528" }, { "id": 15540, "label": "motor developmental delay due to 14q32.2 paternally expressed gene defect", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111713", "GARD:0013431", "MEDGEN:863995", "NCIT:C120409", "OMIM:616222", "Orphanet:254516", "UMLS:C4015558" ], "synonyms": [ "mUPD14 syndrome", "maternal uniparental disomy chromosome 14 syndrome", "TEMPLE syndrome", "uniparental disomy, maternal, chromosome 14" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father." }, "child_count": 3, "reference_id": "MONDO:0014541" }, { "id": 15572, "label": "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070526", "GARD:0017764", "MEDGEN:902464", "OMIM:616295", "Orphanet:444138", "UMLS:C4225381" ], "synonyms": [ "plack syndrome", "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads", "peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome", "plack" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014574" }, { "id": 15606, "label": "mandibulofacial dysostosis with alopecia", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 5714, 16319 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060365", "GARD:0017758", "MEDGEN:898794", "OMIM:616367", "Orphanet:443995", "UMLS:C4225349" ], "synonyms": [ "MFDA", "mandibulofacial dysostosis with alopecia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." }, "child_count": 0, "reference_id": "MONDO:0014608" }, { "id": 15629, "label": "epilepsy with myoclonic atonic seizures", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24270, 25084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060475", "GARD:0016108", "ICD9:345.10", "MEDGEN:98284", "OMIM:616421", "Orphanet:1942", "SCTID:230421008", "UMLS:C0393702", "icd11.foundation:951920505" ], "synonyms": [ "Doose syndrome", "EMAS", "EMAtS", "MAE", "Myoclonic Atonic Epilepsy", "epilepsy with myoclonic atonic seizures", "epilepsy with myoclonic-astatic seizures", "epilepsy with myoclonic-atonic seizures", "myoclonic atonic epilepsy", "myoclonic-astatic epilepsy in early childhood", "myoclonic-atonic epilepsy", "epilepsy with myoclono-astatic crisis", "myoclonic astatic epilepsy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25." }, "child_count": 0, "reference_id": "MONDO:0014633" }, { "id": 15681, "label": "short stature, microcephaly, and endocrine dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 6875, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018483", "MEDGEN:895448", "OMIM:616541", "UMLS:C4225288" ], "synonyms": [ "short stature, microcephaly, and endocrine dysfunction", "SSMED" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014686" }, { "id": 15707, "label": "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017858", "MEDGEN:1799073", "OMIM:616632", "Orphanet:477814", "UMLS:C5567650" ], "synonyms": [ "SCBMS", "seizures, cortical blindness, microcephaly syndrome", "seizures, cortical blindness, and microcephaly syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal." }, "child_count": 0, "reference_id": "MONDO:0014714" }, { "id": 15715, "label": "PMP22-RAI1 contiguous gene duplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 17380 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017859", "MEDGEN:894862", "OMIM:616652", "Orphanet:477817", "UMLS:C4225255" ], "synonyms": [ "17p11.2p12 microduplication syndrome", "YUHAL", "Yuan-Harel-Lupski syndrome", "dup(17)(p11.2p12)", "trisomy 17p11.2-p12", "trisomy 17p11.2p12", "YUAN-Harel-Lupski syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014723" }, { "id": 15736, "label": "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19714, 20092 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111155", "GARD:0017833", "MEDGEN:1800507", "OMIM:616719", "Orphanet:466794", "UMLS:C5569084" ], "synonyms": [ "SCAR21", "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome", "autosomal recessive spinocerebellar ataxia type 21", "spinocerebellar ataxia, autosomal recessive 21", "spinocerebellar ataxia, autosomal recessive type 21", "autosomal recessive spinocerebellar ataxia 21", "spinocerebellar ataxia, autosomal recessive 21, with hepatopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13." }, "child_count": 0, "reference_id": "MONDO:0014744" }, { "id": 15739, "label": "familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017888", "MEDGEN:903733", "OMIM:616722", "Orphanet:488197", "UMLS:C4225493" ], "synonyms": [ "retinal dystrophy and iris coloboma with or without cataract", "RDICC", "retinal dystrophy and iris coloboma with or without congenital cataract" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0014747" }, { "id": 15748, "label": "macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 10564, 16087, 18746 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017884", "MEDGEN:906646", "NANDO:2200985", "OMIM:616737", "Orphanet:487796", "UMLS:C4225222" ], "synonyms": [ "Takenouchi-Kosaki syndrome", "TAKENOUCHI-Kosaki syndrome", "TKS", "macrothrombocytopenia and intellectual disability syndrome", "macrothrombocytopenia and mental retardation syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014757" }, { "id": 15779, "label": "Luscan-Lumish syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013789", "MEDGEN:898669", "OMIM:616831", "Orphanet:597738", "UMLS:C4085873" ], "synonyms": [ "LLS", "LLs", "Luscan-Lumish syndrome", "Luscan-Lumish syndrome; LLs", "SETD2-related overgrowth syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014791" }, { "id": 15789, "label": "even-plus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 17206 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017913", "MEDGEN:904613", "OMIM:616854", "Orphanet:496751", "UMLS:C4225180" ], "synonyms": [ "EVPLS", "epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome", "even-plus syndrome", "epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014801" }, { "id": 15869, "label": "MIRAGE syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013108", "MEDGEN:924576", "NCIT:C147530", "OMIM:617053", "Orphanet:494433", "UMLS:C4284088" ], "synonyms": [ "MIRAGE", "mirage", "mirage syndrome", "myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy", "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome", "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy." }, "child_count": 0, "reference_id": "MONDO:0014888" }, { "id": 15891, "label": "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017980", "MEDGEN:934687", "OMIM:617093", "Orphanet:541423", "UMLS:C4310720" ], "synonyms": [ "GRIDHH", "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy", "growth retardation, impaired intellectual development, hypotonia, and hepatopathy", "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss." }, "child_count": 0, "reference_id": "MONDO:0014911" }, { "id": 15931, "label": "intellectual disability-epilepsy-extrapyramidal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 25031 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013474", "MEDGEN:934650", "OMIM:617171", "Orphanet:468620", "UMLS:C4310683" ], "synonyms": [ "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures", "DYSEIDD", "dyskinesia, seizures, and intellectual developmental disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014952" }, { "id": 16004, "label": "48,XXYY syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18156 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005677", "ICD9:758.81", "MEDGEN:422434", "MedDRA:10048230", "NCIT:C89801", "NORD:2038", "Orphanet:10", "SCTID:403760006", "UMLS:C2936741" ], "synonyms": [ "48, XXYY Syndrome", "48, XXYY syndrome", "48,XXYY Klinefelter syndrome", "48,XXYY variant of Klinefelter's syndrome", "XXYY syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." }, "child_count": 0, "reference_id": "MONDO:0015028" }, { "id": 16053, "label": "FRAXF syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019769", "MEDGEN:897295", "Orphanet:100974", "SCTID:716708005", "UMLS:C4274329" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established." }, "child_count": 0, "reference_id": "MONDO:0015084" }, { "id": 16082, "label": "complex hereditary spastic paraplegia", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18959 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019823", "MEDGEN:581446", "NANDO:1200054", "Orphanet:102013", "SCTID:230261006", "UMLS:C0393556" ], "synonyms": [ "Complex HSP", "Complex SPG", "Complex familial spastic paraplegia", "complicated HSP", "complicated SPG", "complicated familial spastic paraplegia", "complicated hereditary spastic paraplegia", "syndrome associated with hereditary spastic paraplegia", "syndromic hereditary spastic paraplegia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary spastic paraplegia that is part of a larger syndrome." }, "child_count": 100, "reference_id": "MONDO:0015150" }, { "id": 16110, "label": "aniridia-ptosis-intellectual disability-familial obesity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000689", "MEDGEN:929405", "Orphanet:1067", "SCTID:720987001", "UMLS:C4303736" ], "synonyms": [ "aniridia - ptosis - intellectual disability - familial obesity" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." }, "child_count": 0, "reference_id": "MONDO:0015198" }, { "id": 16111, "label": "aniridia - intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005530", "MEDGEN:419752", "MESH:C536568", "Orphanet:1068", "UMLS:C2931243" ], "synonyms": [ "Walker-Dyson syndrome", "Walker Dyson syndrome", "aniridia associated with intellectual disability and other eye abnormalities", "aniridia associated with mental retardation and other eye abnormalities" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974." }, "child_count": 0, "reference_id": "MONDO:0015199" }, { "id": 16113, "label": "ankyloblepharon filiforme-imperforate anus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19507, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000697", "MEDGEN:1666000", "Orphanet:1074", "UMLS:C4751231" ], "synonyms": [ "Aughton-Hufnagle syndrome", "ankyloblepharon filiforme adnatum-imperforate anus syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993." }, "child_count": 0, "reference_id": "MONDO:0015201" }, { "id": 16119, "label": "pentasomy X", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24425, 24481 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005678", "MEDGEN:423649", "MESH:C535319", "NCIT:C89802", "NORD:1565", "Orphanet:11", "SCTID:43248007", "UMLS:C2937419", "icd11.foundation:2087864894" ], "synonyms": [ "49, XXXXX syndrome", "49,XXXXX syndrome", "Penta X Syndrome", "Pentasomy type X", "XXXXX syndrome", "penta X syndrome", "penta-X", "poly-X", "Pentasomy X syndrome", "chromosome X pentasomy", "chromosome XXXXX syndrome", "penta-X syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." }, "child_count": 0, "reference_id": "MONDO:0015228" }, { "id": 16120, "label": "Bardet-Biedl syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7000, 7611 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1935", "GARD:0006866", "ICD9:759.89", "MEDGEN:156019", "MESH:D020788", "MedDRA:10056715", "NANDO:2200414", "NCIT:C118632", "NORD:838", "OMIMPS:209900", "Orphanet:110", "SCTID:5619004", "UMLS:C0752166", "icd11.foundation:255526264" ], "synonyms": [ "BBS", "Bardet-Biedl syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems" }, "child_count": 66, "reference_id": "MONDO:0015229" }, { "id": 16121, "label": "anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000717", "MEDGEN:929704", "Orphanet:1101", "SCTID:720495005", "UMLS:C4304035" ], "synonyms": [ "Cassia Stocco dos Santos syndrome", "anophthalmia megalocornea cardiopathy skeletal anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992." }, "child_count": 0, "reference_id": "MONDO:0015230" }, { "id": 16122, "label": "Bartter syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 8001, 16626 ], "type_id": 0, "properties": { "xrefs": [ "DOID:445", "GARD:0005893", "ICD10CM:E26.81", "ICD9:255.13", "MEDGEN:2172", "MESH:D001477", "MedDRA:10050839", "NANDO:2100021", "NANDO:2200146", "NCIT:C34412", "NORD:842", "OMIMPS:601678", "Orphanet:112", "SCTID:707742001", "UMLS:C0004775", "icd11.foundation:777233947" ], "synonyms": [ "Bartter disease", "Bartter's syndrome", "hypokalemic alkalosis", "renal tubular normotensive hypokalemic alkalosis with hypercalciuria", "salt-losing tubular disorder, Henle's loop type", "salt-wasting tubulopathy, Henle's loop type", "Potassium wasting", "hypokalemic alkalosis with hypercalciuria" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." }, "child_count": 18, "reference_id": "MONDO:0015231" }, { "id": 16126, "label": "arachnodactyly-intellectual disability-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000764", "MEDGEN:929699", "Orphanet:1130", "SCTID:720502000", "UMLS:C4304030" ], "synonyms": [ "De Die-Smulders-Vles-Fryns syndrome", "die Smulders Vles Fryns syndrome", "arachnodactyly - intellectual disability - dysmorphism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients." }, "child_count": 0, "reference_id": "MONDO:0015235" }, { "id": 16135, "label": "ataxia-photosensitivity-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002287", "MEDGEN:1655873", "Orphanet:1184", "UMLS:C4751230" ], "synonyms": [ "Fenton Wilkinson Toselano syndrome", "Fenton-Wilkinson-Toselano syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983." }, "child_count": 0, "reference_id": "MONDO:0015248" }, { "id": 16147, "label": "Brugada syndrome", "isLeaf": false, "isRoot": false, "parents": [ 3258, 4370, 26601 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050451", "GARD:0001030", "ICD9:746.89", "MEDGEN:222975", "MESH:D053840", "MedDRA:10059027", "NCIT:C142891", "NORD:878", "OMIMPS:601144", "Orphanet:130", "SCTID:418818005", "UMLS:C1142166", "icd11.foundation:1250136584" ], "synonyms": [ "Brugada syndrome", "Brugada type idiopathic ventricular fibrillation", "idiopathic ventricular fibrillation, Brugada type", "right bundle branch block, ST segment elevation, and sudden death syndrome", "sudden unexplained nocturnal death syndrome", "sudden unexpected nocturnal death syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death." }, "child_count": 27, "reference_id": "MONDO:0015263" }, { "id": 16150, "label": "Feingold syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060464", "GARD:0008407", "MEDGEN:163209", "NCIT:C74987", "OMIMPS:164280", "Orphanet:1305", "UMLS:C0796068" ], "synonyms": [ "Brunner-Winter syndrome", "FGLDS", "FS", "MMT", "MODED syndrome", "ODED syndrome", "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum", "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum", "microcephaly-digital anomalies-normal intelligence syndrome", "microcephaly-intellectual disability-tracheoesophageal fistula syndrome", "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome", "oculo-digito-esophageal-duodenal syndrome", "digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." }, "child_count": 4, "reference_id": "MONDO:0015267" }, { "id": 16164, "label": "cardiomyopathy-cataract-hip spine disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001102", "MEDGEN:419439", "MESH:C537616", "Orphanet:1345", "SCTID:720609003", "UMLS:C2931548" ], "synonyms": [ "Krasnow-Qazi syndrome", "Krasnow Qazi Yermakov syndrome", "Krasnow Qazi syndrome", "cardiomyopathy cataract hip spine disease", "familial dilated cardiomyopathy associated with cataracts and hip-spine disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." }, "child_count": 0, "reference_id": "MONDO:0015282" }, { "id": 16180, "label": "cataract - microcornea syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001155", "MESH:C538287", "Orphanet:1377" ], "synonyms": [ "cataract microcornea syndrome", "microcornea cataract syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0015300" }, { "id": 16188, "label": "autism-facial port-wine stain syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010303", "Orphanet:137911" ], "synonyms": [ "autism with port-wine stain" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the presence of a unilateral angioma on the face and autistic developmental problems characterized by language delay and atypical social interactions." }, "child_count": 0, "reference_id": "MONDO:0015311" }, { "id": 16195, "label": "cataract-intellectual disability-anal atresia-urinary defects syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000192", "MEDGEN:419068", "MESH:C537009", "Orphanet:1381", "SCTID:715989002", "UMLS:C2931391" ], "synonyms": [ "Karandikar-Maria-Kamble syndrome", "Karandikar Maria Kamble syndrome", "cataract intellectual disability anal atresia urinary defects", "cataract mental retardation anal atresia urinary defects", "congenital cataract with multiple congenital anomalies in a sibship" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies." }, "child_count": 0, "reference_id": "MONDO:0015324" }, { "id": 16196, "label": "cataract-deafness-hypogonadism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000248", "MEDGEN:419760", "MESH:C536626", "Orphanet:1383", "SCTID:722378009", "UMLS:C2931269" ], "synonyms": [ "Schaap-Taylor-Baraitser syndrome", "cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." }, "child_count": 0, "reference_id": "MONDO:0015325" }, { "id": 16201, "label": "syndromic craniosynostosis", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16310, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019911", "MEDGEN:1842203", "Orphanet:139393", "UMLS:C5680624" ], "synonyms": [ "syndrome associated with craniosynostosis", "syndromic craniosynostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A craniosynostosis that is part of a larger syndrome." }, "child_count": 120, "reference_id": "MONDO:0015338" }, { "id": 16203, "label": "drug rash with eosinophilia and systemic symptoms", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7148, 7238, 17704 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013629", "ICD10CM:D72.12", "MEDGEN:762193", "MESH:D063926", "MedDRA:10058919", "NCIT:C112208", "Orphanet:139402", "SCTID:702809001", "UMLS:C3541994", "icd11.foundation:516577496" ], "synonyms": [ "DHS", "DRESS", "DRESS syndrome", "Drug hypersensitivity syndrome", "Drug reaction with eosinophilia and Systemic symptoms", "dress", "drug reaction eosinophilic systemic syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6." }, "child_count": 0, "reference_id": "MONDO:0015340" }, { "id": 16209, "label": "multicentric reticulohistiocytosis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16345 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11824", "GARD:0007103", "ICD10CM:E78.81", "ICD9:272.8", "ICD9:713.0", "MEDGEN:86315", "MedDRA:10070595", "NCIT:C27896", "Orphanet:139436", "SCTID:84241008", "UMLS:C0311284", "icd11.foundation:977116795" ], "synonyms": [ "giant cell histiocytomatosis", "lipoid dermatoarthritis", "multicentric reticulohistiocytosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis." }, "child_count": 0, "reference_id": "MONDO:0015347" }, { "id": 16216, "label": "hereditary sensory and autonomic neuropathy with deafness and global delay", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019920", "MEDGEN:929235", "Orphanet:139573", "SCTID:717826009", "UMLS:C4303566" ], "synonyms": [ "HSAN with deafness and global delay" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay." }, "child_count": 0, "reference_id": "MONDO:0015354" }, { "id": 16250, "label": "craniofacial microsomia", "isLeaf": false, "isRoot": false, "parents": [ 4370, 9066, 20691 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2907", "GARD:0012074", "ICD9:759.89", "MEDGEN:75554", "MESH:D006053", "NCIT:C84740", "OMIMPS:164210", "Orphanet:141132", "Orphanet:141136", "Orphanet:374", "SCTID:109393007", "SCTID:367462009", "UMLS:C0265240" ], "synonyms": [ "Expanded spectrum hemifacial microsomia", "Expanded spectrum of hemifacial microsomia", "Goldenhar disease", "Goldenhar syndrome", "HFM", "Laterofacial microsomia", "OAV dysplasia", "OAV spectrum", "OAVS", "facioauriculovertebral dysplasia", "first branchial arch syndrome", "hemifacial microsomia", "oculo-auriculo-vertebral spectrum", "oculoauriculovertebral dysplasia", "oculoauriculovertebral spectrum", "oculoauriculovertebral syndrome", "otomandibular syndrome", "unilateral or bilateral and asymmetric otomandibular dysplasia", "Fav sequence", "OAVD", "facioauriculovertebral sequence", "oculo-auriculo-vertebral dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 6, "reference_id": "MONDO:0015397" }, { "id": 16276, "label": "ring chromosome 10", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24415, 24487 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001322", "MEDGEN:539252", "MESH:C538086", "Orphanet:1438", "SCTID:86997002", "UMLS:C0265438" ], "synonyms": [ "Ring chromosome type 10", "Ring 10", "Ring chromosome 10 syndrome", "chromosome 10 ring", "r10" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases." }, "child_count": 0, "reference_id": "MONDO:0015431" }, { "id": 16295, "label": "Coffin-Siris syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 6893, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1925", "GARD:0006124", "ICD9:759.89", "MEDGEN:75565", "MESH:C536436", "NANDO:1200670", "NANDO:2200977", "NCIT:C35321", "NORD:984", "OMIMPS:135900", "Orphanet:1465", "SCTID:10007009", "UMLS:C0265338", "icd11.foundation:734451870" ], "synonyms": [ "CSS", "Coffin-Siris syndrome", "intellectual disability with absent fifth fingernail and terminal phalanx" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." }, "child_count": 44, "reference_id": "MONDO:0015452" }, { "id": 16299, "label": "corpus callosum agenesis-double urinary collecting system syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001536", "MEDGEN:419659", "MESH:C535427", "Orphanet:1492", "UMLS:C2930897" ], "synonyms": [ "Ben Ari-Shuper-Mimouni syndrome", "corpus callosum agenesis-double urinary collecting system syndrome", "Ben Ari Shuper Mimouni syndrome", "agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies", "corpus callosum agenesis - double urinary collecting system", "corpus callosum agenesis double urinary collecting" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0015457" }, { "id": 16302, "label": "short rib-polydactyly syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16618, 19471 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018726", "ICD9:756.3", "MEDGEN:11412", "MESH:D012779", "NCIT:C85065", "Orphanet:1505", "SCTID:205484001", "UMLS:C0036996", "icd11.foundation:960900212" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)." }, "child_count": 12, "reference_id": "MONDO:0015461" }, { "id": 16328, "label": "oromandibular-limb anomalies syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019996", "MEDGEN:1842880", "Orphanet:156215", "UMLS:C5680663", "icd11.foundation:1868700139" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 4, "reference_id": "MONDO:0015498" }, { "id": 16354, "label": "hemophagocytic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7447 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050120", "GARD:0020024", "ICD10CM:D76.1", "ICD9:288.8", "MEDGEN:854411", "MedDRA:10058125", "NANDO:2200032", "NCIT:C34792", "NCIT:C35439", "NORD:1938", "Orphanet:158032", "SCTID:234437005", "UMLS:C3887558" ], "synonyms": [ "HLH", "Hemophagocytic Lymphohistiocytosis", "hemophagocytic lymphohistiocytosis", "hemophagocytic syndrome", "FHL", "familial erythrophagocytic lymphohistiocytosis", "familial hemophagocytic lymphohistiocytosis", "familial histiocytic reticulosis", "haemophagocytic syndrome", "hemophagocytic disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis)." }, "child_count": 4, "reference_id": "MONDO:0015540" }, { "id": 16375, "label": "cataract-glaucoma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001160", "MEDGEN:930800", "Orphanet:162", "SCTID:718851007", "UMLS:C4305131" ], "synonyms": [ "cataract - glaucoma" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years." }, "child_count": 0, "reference_id": "MONDO:0015567" }, { "id": 16440, "label": "diencephalic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006276", "ICD9:253.8", "MEDGEN:90981", "NCIT:C116955", "NORD:1052", "Orphanet:1672", "SCTID:237733001", "UMLS:C0342436", "icd11.foundation:879659089" ], "synonyms": [ "Russell diencephalic cachexia", "Russell syndrome", "diencephalic cachexia", "diencephalic syndrome of childhood", "diencephalic syndrome of emaciation", "diencephalic syndrome of infancy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors." }, "child_count": 0, "reference_id": "MONDO:0015663" }, { "id": 16456, "label": "hypereosinophilic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16883, 23489 ], "type_id": 0, "properties": { "xrefs": [ "DOID:999", "EFO:1001467", "GARD:0002804", "ICD10CM:D72.11", "ICD9:288.3", "ICDO:9964/3", "MEDGEN:280990", "MESH:D017681", "MedDRA:10048643", "NANDO:2200805", "NANDO:2200806", "NCIT:C27038", "Orphanet:168956", "SCTID:419455006", "UMLS:C1540912", "icd11.foundation:110429919" ], "synonyms": [ "HES", "hypereosinophilic disease", "hypereosinophilic disorder", "hypereosinophilic syndrome", "eosinophilia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage." }, "child_count": 24, "reference_id": "MONDO:0015691" }, { "id": 16486, "label": "distal trisomy 14q", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17377 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018739", "MEDGEN:444122", "MESH:C538034", "Orphanet:1705", "UMLS:C2931702" ], "synonyms": [ "distal duplication 14q", "distal trisomy type 14q", "telomeric duplication 14q", "trisomy 14qter" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0015726" }, { "id": 16510, "label": "intellectual disability-cataracts-kyphosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:171860" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence." }, "child_count": 0, "reference_id": "MONDO:0015752" }, { "id": 16519, "label": "progressive familial intrahepatic cholestasis", "isLeaf": false, "isRoot": false, "parents": [ 4370, 17613, 17982 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070221", "GARD:0015255", "MEDGEN:75668", "NANDO:1201042", "NANDO:2200933", "NCIT:C84453", "OMIMPS:211600", "Orphanet:172", "UMLS:C0268312", "icd11.foundation:1457142642" ], "synonyms": [ "PFIC", "cholestasis, progressive familial intrahepatic" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." }, "child_count": 48, "reference_id": "MONDO:0015762" }, { "id": 16530, "label": "thoraco-abdominal enteric duplication", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6151 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005181", "MEDGEN:1372227", "Orphanet:1759", "SCTID:733628001", "UMLS:C4518084", "icd11.foundation:1267632171" ], "synonyms": [ "thoraco abdominal enteric duplication" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported." }, "child_count": 0, "reference_id": "MONDO:0015774" }, { "id": 16572, "label": "oculomaxillofacial dysostosis", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 18362, 21213 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004046", "MEDGEN:333072", "MESH:C537736", "Orphanet:1794", "SCTID:763830009", "UMLS:C1838348", "icd11.foundation:921026296" ], "synonyms": [ "Richieri-Costa-Gorlin syndrome", "Richieri Costa Gorlin syndrome", "oblique facial clefts", "oculomaxillofacial dysplasia with oblique facial clefts" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported." }, "child_count": 4, "reference_id": "MONDO:0015824" }, { "id": 16603, "label": "growth hormone insensitivity syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16330 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003924", "MEDGEN:1384226", "NANDO:2100114", "NANDO:2200321", "NCIT:C129867", "Orphanet:181393", "UMLS:C4318479" ], "synonyms": [ "GHIS", "Growth hormone insensitivity syndromes", "short stature due to a defect in growth hormone receptor or post-receptor pathway" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency." }, "child_count": 12, "reference_id": "MONDO:0015892" }, { "id": 16607, "label": "syndromic dyslipidemia", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4594 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020232", "MEDGEN:1826171", "Orphanet:181437", "SCTID:109041000119107", "UMLS:C5680608" ], "synonyms": [ "complex dyslipidaemia", "complex dyslipidemia", "syndrome associated with inherited lipid metabolism disorder", "syndromic inherited lipid metabolism disorder", "rare syndromic dyslipidaemia", "rare syndromic dyslipidemia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome." }, "child_count": 58, "reference_id": "MONDO:0015905" }, { "id": 16611, "label": "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss", "isLeaf": true, "isRoot": false, "parents": [ 2702, 4370, 18746 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060651", "EFO:0009646", "GARD:0000180", "ICD9:287.33", "ICD9:582.89", "ICD9:759.89", "MEDGEN:1704278", "MESH:C537831", "NCIT:C131646", "NCIT:C158788", "OMIM:153640", "OMIM:155100", "OMIM:600208", "OMIM:605249", "Orphanet:1019", "Orphanet:182050", "Orphanet:1984", "Orphanet:807", "Orphanet:850", "SCTID:234484005", "SCTID:234485006", "SCTID:236422008", "SCTID:712922002", "UMLS:C5200934" ], "synonyms": [ "Epstein syndrome", "Fechtner syndrome", "MYH9-RD", "MYH9-related disease", "MYH9-related disorder", "MYH9-related syndrome", "MYH9-related syndromic thrombocytopenia", "May-Hegglin anomaly", "Sebastian platelet syndrome", "Sebastian syndrome", "giant platelet syndrome with thrombocytopenia", "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss", "macrothrombocytopenia and progressive sensorineural deafness", "Alport syndrome with macrothrombocytopenia", "Alport syndrome with macrothrombocytopenia, formerly", "Brodie Chole griffin syndrome", "Brodie Chole gryphon syndrome", "Dohle leukocyte inclusions with giant platelets", "FTNS", "MHA", "MYH9 related disorders", "MYH9 related thrombocytopenia", "May-Hegglin thrombocytopenia", "SBS", "bleeding disorder, Platelet-type, 6", "macrothrombocytopenia progressive deafness", "macrothrombocytopenia with dispersed leukocytic inclusions", "macrothrombocytopenia with leukocyte inclusions", "macrothrombocytopenia, nephritis, and deafness", "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions", "matins" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD." }, "child_count": 0, "reference_id": "MONDO:0015912" }, { "id": 16620, "label": "epiphyseal dysplasia-hearing loss-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002178", "MEDGEN:1643947", "Orphanet:1825", "SCTID:766870005", "UMLS:C4707857" ], "synonyms": [ "Finucane-Kurtz-Scott syndrome", "Finucane Kurtz Scott syndrome", "epiphyseal dysplasia hearing loss dysmorphism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992." }, "child_count": 0, "reference_id": "MONDO:0015941" }, { "id": 16622, "label": "eosinophilic granulomatosis with polyangiitis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 13171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3049", "EFO:0007208", "GARD:0006111", "ICD10CM:M30.1", "MEDGEN:3088", "MESH:D015267", "MedDRA:10048594", "NANDO:1200264", "NANDO:2200427", "NCIT:C34481", "NORD:973", "Orphanet:183", "SCTID:82275008", "UMLS:C0008728", "icd11.foundation:835880885" ], "synonyms": [ "CSS", "Churg Strauss Syndrome", "Churg Strauss syndrome", "Churg-Strauss syndrome", "Churg-Strauss vasculitis", "EGPA", "allergic angiitides", "allergic angiitides, granulomatous", "allergic angiitis", "allergic angiitis and granulomatosis", "allergic angiitis, granulomatous", "allergic granulomatoses", "allergic granulomatosis", "allergic granulomatous Angiitides", "allergic granulomatous and angiitis", "allergic granulomatous angiitis", "angiitides, allergic", "angiitides, allergic granulomatous", "angiitides, granulomatous allergic", "angiitis, allergic", "angiitis, allergic granulomatous", "angiitis, granulomatous allergic", "eosinophilic granulomatous Vasculitides", "eosinophilic granulomatous vasculitis", "granulomatoses, allergic", "granulomatosis, allergic", "granulomatous allergic Angiitides", "granulomatous allergic angiitis", "granulomatous angiitides, allergic", "granulomatous angiitis, allergic", "granulomatous vasculitides, eosinophilic", "granulomatous vasculitis, eosinophilic", "syndrome, Churg-Strauss", "vasculitides, eosinophilic granulomatous", "vasculitis, Churg Strauss", "vasculitis, Churg-Strauss", "vasculitis, eosinophilic granulomatous" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia." }, "child_count": 0, "reference_id": "MONDO:0015943" }, { "id": 16623, "label": "axial mesodermal dysplasia spectrum", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000213", "MEDGEN:419853", "MESH:C537790", "Orphanet:1834", "SCTID:765755006", "UMLS:C2931613" ], "synonyms": [ "Russell-Weaver-Bull syndrome", "blastogenesis defect", "Russell Weaver Bull syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula." }, "child_count": 0, "reference_id": "MONDO:0015944" }, { "id": 16650, "label": "fetal hydantoin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17143 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:Q86.1", "ICD9:759.89", "MEDGEN:75569", "MESH:C537922", "MedDRA:10016508", "NCIT:C98927", "NORD:1139", "Orphanet:1912", "SCTID:70065001", "UMLS:C0265372", "icd11.foundation:1894344911" ], "synonyms": [ "FHS", "fetal dihydantoin syndrome", "foetal dihydantoin syndrome", "phenytoin embryofetopathy", "Dilantin embryopathy", "phenytoin embryopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported." }, "child_count": 0, "reference_id": "MONDO:0016008" }, { "id": 16652, "label": "vitamin K-antagonist embryofetopathy", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17143 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:759.89", "MEDGEN:75570", "MESH:C536683", "MedDRA:10051445", "NCIT:C98906", "Orphanet:1914", "SCTID:38323006", "UMLS:C0265374", "icd11.foundation:71579696" ], "synonyms": [ "di Sala syndrome", "fetal Coumadin syndrome", "fetal warfarin syndrome", "foetal Coumadin syndrome", "foetal warfarin syndrome", "vitamin K antagonist embryopathy", "vitamin K-antagonist embryofetopathy", "vitamin K-antagonist embryopathy", "warfarin embryofetopathy", "warfarin embryopathy", "DiSala syndrome", "congenital warfarin syndrome", "coumarin embryopathy", "coumarin syndrome", "embryofetopathy due to oral anticoagulant therapy", "fetal anticoagulant syndrome", "foetal anticoagulant syndrome", "vitamin K antagonist embryofetopathy", "vitamin K antagonists embryofetopathy", "warfarin syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly." }, "child_count": 0, "reference_id": "MONDO:0016010" }, { "id": 16653, "label": "fetal alcohol syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2897, 4370, 17143 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050665", "DOID:0050667", "ICD10CM:Q86.0", "MEDGEN:8820", "MedDRA:10016845", "NCIT:C84713", "Orphanet:1915", "SCTID:205788004", "UMLS:C0015923", "icd11.foundation:362980699" ], "synonyms": [ "FASD", "fetal alcohol spectrum disorders", "foetal alcohol spectrum disorders", "ARBD", "ARND", "FAS", "alcohol-related neurodevelopmental disorder", "alcohol-related birth defects", "static encephalopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention)." }, "child_count": 0, "reference_id": "MONDO:0016011" }, { "id": 16659, "label": "methimazole embryofetopathy", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17143 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1388574", "Orphanet:1923", "SCTID:724144006", "UMLS:C4510379", "icd11.foundation:1204409156" ], "synonyms": [ "MMI/CMZ embryofetopathy", "MMI/CMZ embryopathy", "Methimazole/carbimazole embryofetopathy", "Methimazole/carbimazole embryopathy", "methimazole embryofetopathy", "Methimazole antenatal exposure", "fetal methimazole syndrome", "foetal methimazole syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia." }, "child_count": 0, "reference_id": "MONDO:0016017" }, { "id": 16668, "label": "Evans syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6463, 18985, 19736 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8931", "GARD:0006389", "ICD10CM:D69.41", "ICD9:287.32", "MEDGEN:75773", "MESH:C536380", "MedDRA:10053873", "NANDO:1200310", "NCIT:C61284", "NORD:1112", "Orphanet:1959", "SCTID:75331009", "UMLS:C0272126", "icd11.foundation:1048228553" ], "synonyms": [ "Evans' syndrome", "autoimmune hemolytic anaemia and autoimmune thrombocytopenia", "autoimmune hemolytic anemia and autoimmune thrombocytopenia", "immune pancytopenia", "Evan syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology." }, "child_count": 0, "reference_id": "MONDO:0016030" }, { "id": 16671, "label": "Cornelia de Lange syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 16087, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11725", "GARD:0010109", "MEDGEN:78752", "MedDRA:10056354", "NANDO:1200960", "NANDO:2200958", "NCIT:C75016", "NORD:1009", "OMIMPS:122470", "Orphanet:199", "UMLS:C0270972", "icd11.foundation:1801560012" ], "synonyms": [ "Brachmann-de Lange syndrome", "Cornelia de Lange syndrome", "CDLS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes." }, "child_count": 24, "reference_id": "MONDO:0016033" }, { "id": 16686, "label": "cleft lip-retinopathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000435", "MEDGEN:419494", "MESH:C538272", "Orphanet:1995", "UMLS:C2931789" ], "synonyms": [ "Ausems-Wittebol Post-Hennekam syndrome", "cleft lip-cone rod dystrophy syndrome", "cleft lip-progressive retinopathy syndrome", "Ausems Wittebol-Post Hennekam syndrome", "cleft lip with progressive retinopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." }, "child_count": 0, "reference_id": "MONDO:0016051" }, { "id": 16692, "label": "cleft lip/palate-deafness-sacral lipoma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018755", "MEDGEN:905203", "Orphanet:2003", "SCTID:716007007", "UMLS:C4274888" ], "synonyms": [ "Lowry-Yong syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive." }, "child_count": 0, "reference_id": "MONDO:0016059" }, { "id": 16700, "label": "Crandall syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001561", "ICD9:704.8", "MEDGEN:96597", "Orphanet:202", "SCTID:278098005", "UMLS:C0432348" ], "synonyms": [ "alopecia-deafness-hypogonadism syndrome", "alopecia-sensorineural deafness-hypogonadism syndrome", "alopecia deafness hypogonadism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder." }, "child_count": 0, "reference_id": "MONDO:0016067" }, { "id": 16704, "label": "syndromic microphthalmia", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 20367 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080636", "GARD:0020342", "MEDGEN:1826052", "OMIMPS:309800", "Orphanet:202948", "UMLS:C5679782" ], "synonyms": [ "microphthalmia, syndromic", "syndrome associated with microphthalmia", "syndromic microphthalmia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A microphthalmia that is part of a larger syndrome." }, "child_count": 57, "reference_id": "MONDO:0016073" }, { "id": 16712, "label": "Cole-Carpenter syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16089, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060438", "GARD:0001425", "MEDGEN:350614", "MESH:C535963", "NCIT:C130985", "OMIMPS:112240", "Orphanet:2050", "UMLS:C1862178", "icd11.foundation:1458793358" ], "synonyms": [ "bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome", "Cole Carpenter syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)." }, "child_count": 6, "reference_id": "MONDO:0016085" }, { "id": 16737, "label": "myotonic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19743 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020372", "MEDGEN:107510", "MESH:D020967", "MedDRA:10028658", "Orphanet:206970", "UMLS:C0553604" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 10, "reference_id": "MONDO:0016120" }, { "id": 16801, "label": "Guillain-Barre syndrome", "isLeaf": false, "isRoot": false, "parents": [ 3006, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12842", "EFO:0007292", "GARD:0006554", "ICD10CM:G61.0", "MEDGEN:5399", "MESH:D020275", "MedDRA:10018767", "NCIT:C116345", "Orphanet:2103", "SCTID:40956001", "UMLS:C0018378" ], "synonyms": [ "GBS", "Guillain Barre syndrome", "Guillain Barré syndrome", "Guillain-Barre-Strohl syndrome", "Guillain-Barré syndrome", "Guillain-Barré-Strohl syndrome", "post-infectious polyneuritis", "post-infective polyneuritis", "postinfectious polyneuritis", "Landry's ascending paralysis", "Landry-Guillain-Barre-Strohl syndrome", "acute autoimmune peripheral neuropathy", "acute immune-mediated polyneuropathy", "acute inflammatory demyelinating polyneuropathy", "acute inflammatory neuropathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants." }, "child_count": 22, "reference_id": "MONDO:0016218" }, { "id": 16818, "label": "atypical hemolytic-uremic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5701, 19495, 25595 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080301", "GARD:0008702", "MEDGEN:444141", "MESH:D065766", "NANDO:1200473", "NANDO:1200474", "NANDO:2200131", "NANDO:2200641", "NCIT:C123223", "NORD:822", "Orphanet:2134", "UMLS:C2931788" ], "synonyms": [ "Atypical Hemolytic Uremic Syndrome", "D-HUS", "aHUS", "atypical HUS", "atypical hemolytic uremic syndrome", "hemolytic-uremic syndrome without diarrhea", "hemolytic-uremic syndrome without diarrhoea", "non-diarrhea-associated hemolytic uremic syndrome", "D-minus hemolytic uremic syndrome (D-HUS)", "HUS, atypical" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction." }, "child_count": 16, "reference_id": "MONDO:0016244" }, { "id": 16822, "label": "Hennekam syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16087, 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060366", "GARD:0003318", "ICD9:457.1", "MEDGEN:137946", "OMIMPS:235510", "Orphanet:2136", "SCTID:234146006", "UMLS:C0340834", "icd11.foundation:162216708" ], "synonyms": [ "Hennekam lymphangiectasia lymphedema syndrome", "Hennekam lymphangiectasia-lymphedema syndrome", "lymphedema-lymphangiectasia-intellectual disability syndrome", "intestinal lymphagiectasia lymphedema intellectual deficit syndrome", "lymphangiectasies and lymphedema Hennekam type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism." }, "child_count": 9, "reference_id": "MONDO:0016256" }, { "id": 16846, "label": "Hernández-Aguirre Negrete syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003491", "MEDGEN:419481", "MESH:C538112", "Orphanet:2139", "SCTID:721146009", "UMLS:C2931736" ], "synonyms": [ "intellectual disability-epilepsy-bulbous nose syndrome", "Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability", "Ehlers-Danlos syndrome with progeroid facies and mild mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0016290" }, { "id": 16848, "label": "nodular neuronal heterotopia", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016586", "MEDGEN:1842941", "Orphanet:2149", "SCTID:253151003", "UMLS:C5680679", "icd11.foundation:143592859" ], "synonyms": [ "genetic nodular heterotopia", "nodular heterotopia", "hereditary nodular heterotopia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 3, "reference_id": "MONDO:0016292" }, { "id": 16850, "label": "Hirschsprung disease-type D brachydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 20415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002700", "MEDGEN:375339", "MESH:C538319", "OMIM:306980", "Orphanet:2150", "UMLS:C1844017" ], "synonyms": [ "Hirschsprung disease with type d brachydactyly", "Hirschsprung disease type d brachydactyly", "Hirschsprung disease with type D brachydactyly", "familial Hirschsprung's disease and type D brachydactyly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out." }, "child_count": 0, "reference_id": "MONDO:0016294" }, { "id": 16852, "label": "holoprosencephaly", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4427, 16087, 18727, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4621", "GARD:0006665", "ICD10CM:Q04.2", "MEDGEN:38214", "MESH:D016142", "MedDRA:10056304", "NANDO:2200819", "NCIT:C74988", "NORD:1247", "OMIMPS:236100", "Orphanet:2162", "SCTID:30915001", "UMLS:C0079541", "icd11.foundation:1712699129" ], "synonyms": [ "HPE", "holoprosencephaly sequence" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." }, "child_count": 85, "reference_id": "MONDO:0016296" }, { "id": 16884, "label": "hydrocephalus-obesity-hypogonadism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002775", "MEDGEN:929145", "Orphanet:2183", "SCTID:721231007", "UMLS:C4303476" ], "synonyms": [ "Sengers-Hamel-Otten syndrome", "congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism", "hydrocephalus obesity hypogonadism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." }, "child_count": 0, "reference_id": "MONDO:0016346" }, { "id": 16886, "label": "hydrocephalus-blue sclerae-nephropathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16885 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000236", "MEDGEN:418960", "MESH:C535768", "Orphanet:2186", "UMLS:C2931014" ], "synonyms": [ "Daentl-Townsend-Siegel syndrome", "familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome", "hydrocephalus blue sclera nephropathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978." }, "child_count": 0, "reference_id": "MONDO:0016350" }, { "id": 16889, "label": "xeroderma pigmentosum-Cockayne syndrome complex", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16625 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017130", "MEDGEN:930080", "NCIT:C156031", "Orphanet:220295", "UMLS:C4304411", "icd11.foundation:2002862606" ], "synonyms": [ "XP/CS complex" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS)." }, "child_count": 12, "reference_id": "MONDO:0016354" }, { "id": 16896, "label": "Joubert syndrome with ocular defect", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16225, 19709, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010168", "MEDGEN:909607", "Orphanet:220493", "SCTID:716998009", "UMLS:C4274118", "icd11.foundation:1358617785" ], "synonyms": [ "JS-O", "Joubert syndrome with retinopathy", "JBTS3", "Joubert syndrome 3", "Joubert syndrome with ocular anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy." }, "child_count": 20, "reference_id": "MONDO:0016364" }, { "id": 16916, "label": "hypogonadism-mitral valve prolapse-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001078", "MEDGEN:444117", "MESH:C537981", "Orphanet:2233", "SCTID:721841001", "UMLS:C2931685" ], "synonyms": [ "Cantalamessa-Baldini-Ambrosi syndrome", "Cantalamessa Baldini Ambrosi syndrome", "primary gonadal failure, short stature, mitral valve prolapse, and intellectual disability", "primary gonadal failure, short stature, mitral valve prolapse, and mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature." }, "child_count": 0, "reference_id": "MONDO:0016385" }, { "id": 16917, "label": "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16526 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001234", "MEDGEN:419479", "MESH:C538075", "Orphanet:2235", "UMLS:C2931722" ], "synonyms": [ "Chang-Davidson-Carlson syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents." }, "child_count": 0, "reference_id": "MONDO:0016386" }, { "id": 16931, "label": "hypotrichosis-intellectual disability, Lopes type", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018763", "MEDGEN:1371854", "Orphanet:2266", "UMLS:C4509839" ], "synonyms": [ "Lopes-Marques de Faria syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0016414" }, { "id": 16933, "label": "congenital ichthyosis-microcephalus-tetraplegia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001489", "MEDGEN:1809863", "Orphanet:2271", "UMLS:C5679626" ], "synonyms": [ "congenital ichthyosis-microcephalus-quadriplegia syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0016417" }, { "id": 16941, "label": "Hughes-Stovin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020569", "MEDGEN:929147", "Orphanet:228116", "SCTID:721226005", "UMLS:C4303478", "icd11.foundation:1047123748" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis." }, "child_count": 0, "reference_id": "MONDO:0016425" }, { "id": 16946, "label": "heart-hand syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020573", "MEDGEN:1853290", "Orphanet:228184", "UMLS:C5848054" ], "synonyms": [ "atriodigital dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies." }, "child_count": 24, "reference_id": "MONDO:0016432" }, { "id": 16968, "label": "ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020593", "MEDGEN:1378529", "Orphanet:228396", "UMLS:C4510249" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0016457" }, { "id": 16974, "label": "syndromic agammaglobulinemia", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16629 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020596", "MEDGEN:1843258", "NCIT:C26931", "Orphanet:229720", "UMLS:C5680904" ], "synonyms": [ "hypogammaglobulinemia", "syndrome associated with agammaglobulinemia", "syndromic agammaglobulinemia", "syndromic hypogammaglobulinemia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A agammaglobulinemia that is part of a larger syndrome." }, "child_count": 6, "reference_id": "MONDO:0016463" }, { "id": 16977, "label": "isotretinoin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 10699, 17143 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419683", "MESH:C535670", "NCIT:C98929", "NORD:1140", "Orphanet:2305", "SCTID:36871005", "UMLS:C2930972" ], "synonyms": [ "Fetal Retinoid Syndrome", "Isotretinoin embryopathy", "Retinoids embryopathy", "fetal isotretinoin syndrome", "fetal retinoid syndrome", "foetal isotretinoin syndrome", "foetal retinoid syndrome", "retinoic acid embryopathy", "Accutane fetal effects of", "Accutane foetal effects of", "Accutane-exposed pregnancies", "Acutane embryopathy", "Isotretinoin (RoAccutane) embryopathy", "Isotretinoin fetal effects of", "Isotretinoin foetal effects of", "Isotretinoin teratogen syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy." }, "child_count": 0, "reference_id": "MONDO:0016467" }, { "id": 17012, "label": "microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010938", "MEDGEN:1667341", "Orphanet:231736", "UMLS:C4751163" ], "synonyms": [ "MPPC syndrome", "microcornea posterior megalolenticonus persistent fetal vasculature coloboma", "microcornea posterior megalolenticonus persistent foetal vasculature coloboma" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0016509" }, { "id": 17015, "label": "Kabuki syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060473", "GARD:0006810", "MEDGEN:162897", "MESH:C537705", "MedDRA:10063935", "NANDO:1200672", "NANDO:2200956", "NCIT:C124837", "NORD:1318", "OMIMPS:147920", "Orphanet:2322", "SCTID:313426007", "UMLS:C0796004", "icd11.foundation:1104246467" ], "synonyms": [ "KMS", "Kabuki make-up syndrome", "Niikawa-Kuroki syndrome", "NKS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." }, "child_count": 6, "reference_id": "MONDO:0016512" }, { "id": 17018, "label": "Kenny-Caffey syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080724", "GARD:0016594", "ICD9:759.89", "MEDGEN:75560", "MESH:C537020", "NCIT:C130991", "NORD:1325", "OMIMPS:127000", "Orphanet:2333", "SCTID:82837002", "UMLS:C0265291" ], "synonyms": [ "Kenny syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia." }, "child_count": 4, "reference_id": "MONDO:0016516" }, { "id": 17019, "label": "muscular pseudohypertrophy-hypothyroidism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008270", "MEDGEN:82860", "Orphanet:2349", "SCTID:716338001", "UMLS:C0270958" ], "synonyms": [ "Kocher-Debre-Semelaigne syndrome", "Kocher-Debré-Semelaigne syndrome", "Hoffman syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism." }, "child_count": 0, "reference_id": "MONDO:0016521" }, { "id": 17020, "label": "Kousseff syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004752", "MEDGEN:444057", "MESH:C537223", "Orphanet:2351", "SCTID:726083008", "UMLS:C2931444" ], "synonyms": [ "sacral meningocele-conotruncal heart defects syndrome", "sacral meningocele conotruncal heart defects", "sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11." }, "child_count": 0, "reference_id": "MONDO:0016522" }, { "id": 17025, "label": "limb body wall complex", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003251", "MEDGEN:906212", "Orphanet:2369", "SCTID:716106000", "UMLS:C4274839", "icd11.foundation:353005375" ], "synonyms": [ "LBWC syndrome", "Cyllosomas", "aplasia of the cord", "body stalk anomaly", "limb-body wall complex", "short umbilical cord syndrome", "umbilical cord, short" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts." }, "child_count": 0, "reference_id": "MONDO:0016528" }, { "id": 17029, "label": "Lennox-Gastaut syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 23814, 25084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050561", "GARD:0009912", "ICD10CM:G40.81", "MEDGEN:116044", "MESH:D065768", "MedDRA:10048816", "NANDO:1200591", "NANDO:2200879", "NCIT:C84816", "NORD:1358", "OMIM:606369", "Orphanet:2382", "SCTID:230418006", "UMLS:C0238111", "icd11.foundation:651135242" ], "synonyms": [ "LGS", "encephalopathy of childhood", "epileptic encephalopathy Lennox-Gastaut type", "macrocephaly and epileptic encephalopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies." }, "child_count": 9, "reference_id": "MONDO:0016532" }, { "id": 17062, "label": "Lowe-Kohn-Cohen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001695", "MEDGEN:1646729", "MESH:C535996", "Orphanet:2408", "SCTID:766249007", "UMLS:C4707726", "icd11.foundation:2061193977" ], "synonyms": [ "deafness-nephritis-ano-rectal malformation syndrome", "Lowe Kohn Cohen syndrome", "deafness - nephritis - ano-rectal malformation", "deafness nephritis anorectal malformation", "dominant ano-rectal malformation, nephritis and nerve-deafness" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983." }, "child_count": 0, "reference_id": "MONDO:0016568" }, { "id": 17064, "label": "macrocephaly-short stature-paraplegia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4427, 16087, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000172", "MEDGEN:419845", "MESH:C537718", "Orphanet:2427", "SCTID:722033000", "UMLS:C2931595" ], "synonyms": [ "Volcke Soekarman syndrome", "Volcke-Soekarman syndrome", "macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults." }, "child_count": 0, "reference_id": "MONDO:0016571" }, { "id": 17068, "label": "primary ciliary dyskinesia", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6815, 7000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050144", "DOID:9562", "GARD:0004484", "MEDGEN:3467", "MESH:D002925", "MESH:D007619", "MedDRA:10069713", "NANDO:2100034", "NANDO:2200203", "NANDO:2200204", "NCIT:C84797", "NORD:1605", "OMIMPS:244400", "Orphanet:244", "SCTID:42402006", "SCTID:86204009", "UMLS:C0008780", "icd11.foundation:1713839459" ], "synonyms": [ "Kartagener syndrome", "Kartagener's syndrome", "PCD", "Dextrocardia bronchiectasis and sinusitis", "Dextrocardia-bronchiectasis-sinusitis syndrome", "ICS", "Immotile cilia syndrome, Kartagener type", "Primary ciliary dyskinesia and situs inversus", "Primary ciliary dyskinesia, Kartagener type", "Siewert syndrome", "bronchiectasis, chronic sinusitis and dextrocardia syndrome", "ciliary dyskinesia primary" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy)." }, "child_count": 177, "reference_id": "MONDO:0016575" }, { "id": 17074, "label": "familial intestinal malrotation-facial anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 9943, 20383 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:2454" ], "synonyms": [ "Stalker-Chitayat syndrome", "Stalker Chitayat syndrome", "intestinal malrotation facial anomalies familial type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0016583" }, { "id": 17104, "label": "primary hypertrophic osteoarthropathy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14283", "GARD:0020667", "MEDGEN:18210", "MESH:D010004", "MedDRA:10051686", "NANDO:1200642", "NANDO:2100288", "NANDO:2201004", "NCIT:C85023", "OMIMPS:259100", "Orphanet:248095", "Orphanet:2796", "SCTID:88220006", "UMLS:C0029411", "icd11.foundation:792225761" ], "synonyms": [ "PDP", "PHO", "Touraine Solente Gole syndrome", "Touraine-Solente-Gole syndrome", "hypertrophic osteoarthropathy, primary", "hypertrophic osteoarthropathy, primary, autosomal recessive, type 1", "hypertropic osteoarthropathy, primary", "idiopathic hypertrophic osteoarthropathy", "pachydermoperiostosis", "pachydermoperiostosis of nail [ambiguous]", "PHOAR1", "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy." }, "child_count": 8, "reference_id": "MONDO:0016620" }, { "id": 17106, "label": "Melhem-Fahl syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003462", "MEDGEN:444059", "MESH:C537238", "Orphanet:2482", "SCTID:732263008", "UMLS:C2931453", "icd11.foundation:999539082" ], "synonyms": [ "Melhem Fahl syndrome", "fifteen dorsal vertebrae and rib pairs" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." }, "child_count": 0, "reference_id": "MONDO:0016622" }, { "id": 17111, "label": "lower limb deficiency-hypospadias syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018773", "MEDGEN:418952", "MESH:C535640", "Orphanet:2487", "UMLS:C2930962" ], "synonyms": [ "Fried-Goldberg-Mundel syndrome", "lower limb malformation-hypospadias syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977." }, "child_count": 0, "reference_id": "MONDO:0016639" }, { "id": 17127, "label": "8p23.1 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17314 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:39", "GARD:0003769", "MEDGEN:419458", "MESH:C537827", "Orphanet:251071", "SCTID:716381003", "UMLS:C2931638" ], "synonyms": [ "Del(8)(p23.1)", "monosomy 8p23.1", "8p23.1 deletion", "chromosome 8p23.1 deletion", "deletion 8p23.1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." }, "child_count": 0, "reference_id": "MONDO:0016658" }, { "id": 17135, "label": "sickle cell-beta-thalassemia disease syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010333", "MEDGEN:452211", "MedDRA:10040655", "MedDRA:10055579", "NCIT:C95539", "Orphanet:251359", "SCTID:127041004", "UMLS:C0221019" ], "synonyms": [ "Hb S-Beta thalassemia", "HbS-beta-thalassemia syndrome", "S-Beta thalassemia", "sickle cell-Beta thalassemia", "sickle cell-Beta-thalassemia", "sickle cell-beta-thalassemia disease syndrome", "Haemoglobin sickle-beta thalassemia", "Hb S beta-thalassemia", "HbS - beta-thalassemia", "Hemoglobin sickle-beta thalassemia", "sickle beta thalassemia", "sickle cell - beta-thalassemia disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people have a differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leads to the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person." }, "child_count": 4, "reference_id": "MONDO:0016668" }, { "id": 17136, "label": "sickle cell-hemoglobin c disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 12489 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006584", "MEDGEN:5496", "MedDRA:10057072", "Orphanet:251365", "UMLS:C0019034" ], "synonyms": [ "HbSC disease", "sickle cell - haemoglobin C disease", "sickle cell - hemoglobin C disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis." }, "child_count": 0, "reference_id": "MONDO:0016669" }, { "id": 17137, "label": "sickle cell-hemoglobin d disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012458", "MEDGEN:452366", "MedDRA:10056724", "Orphanet:251370", "UMLS:C0272084" ], "synonyms": [ "HbSD disease", "sickle cell - haemoglobin D disease", "sickle cell - hemoglobin D disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln." }, "child_count": 0, "reference_id": "MONDO:0016670" }, { "id": 17138, "label": "sickle cell-hemoglobin E disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020700", "MEDGEN:1669602", "Orphanet:251375", "UMLS:C1112747" ], "synonyms": [ "HbSE disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%)." }, "child_count": 0, "reference_id": "MONDO:0016671" }, { "id": 17139, "label": "hereditary persistence of fetal hemoglobin-sickle cell disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018648", "HGNC:3627", "HGNC:5153", "MEDGEN:1679967", "Orphanet:251380", "UMLS:C5190890" ], "synonyms": [ "HPFH-sickle cell disease syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF." }, "child_count": 0, "reference_id": "MONDO:0016672" }, { "id": 17203, "label": "microcephaly-brain defect-spasticity-hypernatremia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003607", "MEDGEN:1668792", "Orphanet:2523", "UMLS:C4749368" ], "synonyms": [ "Franek-Bocker-Kahlen syndrome", "microcephaly - brain defect - spasticity - hypernatremia", "microcephaly brain defect spasticity hypernatremia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986." }, "child_count": 0, "reference_id": "MONDO:0016758" }, { "id": 17205, "label": "microcephaly-microcornea syndrome, Seemanova type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003627", "MEDGEN:419433", "MESH:C537539", "Orphanet:2528", "SCTID:715464002", "UMLS:C2931524", "icd11.foundation:1197077842" ], "synonyms": [ "Seemanova-Lesny syndrome", "Seemanova Lesny syndrome", "X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation", "microcephaly microcornea syndrome Seemanova type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait." }, "child_count": 0, "reference_id": "MONDO:0016760" }, { "id": 17243, "label": "Meier-Gorlin syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060306", "GARD:0002033", "MEDGEN:401501", "MESH:C538012", "MedDRA:10070612", "NORD:1077", "OMIMPS:224690", "Orphanet:2554", "UMLS:C1868684" ], "synonyms": [ "Meier-Gorlin syndrome", "ear-patella-short stature syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)." }, "child_count": 27, "reference_id": "MONDO:0016817" }, { "id": 17244, "label": "Mikati-Najjar-Sahli syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003617", "MEDGEN:1376092", "Orphanet:2558", "UMLS:C4518578" ], "synonyms": [ "microcephaly-hypergonadotropic hypogonadism-short stature syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities)." }, "child_count": 0, "reference_id": "MONDO:0016818" }, { "id": 17247, "label": "shoulder and girdle defects-familial intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:2580" ], "synonyms": [ "shoulder girdle defect intellectual disability familial", "shoulder girdle defect mental retardation familial" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0016821" }, { "id": 17253, "label": "myopathy-growth delay-intellectual disability-hypospadias syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:2601" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0016827" }, { "id": 17401, "label": "Fuchs heterochromic iridocyclitis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17907 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9375", "GARD:0006791", "ICD10CM:H20.81", "ICD9:364.21", "MEDGEN:507742", "MedDRA:10017406", "Orphanet:263479", "SCTID:11226001", "UMLS:C0016782" ], "synonyms": [ "FHI", "Fuchs heterochromic cyclitis", "Fuchs heterochromic uveitis", "Fuchs' heterochromic cyclitis", "Fuchs' heterochromic uveitis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities." }, "child_count": 0, "reference_id": "MONDO:0016989" }, { "id": 17405, "label": "microcephalic osteodysplastic primordial dwarfism types I and III", "isLeaf": false, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005120", "MEDGEN:1380769", "Orphanet:2636", "SCTID:725461009", "UMLS:C4319565" ], "synonyms": [ "MOPD types I and III", "microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type", "primordial microcephalic dwarfism, Crachami type", "Taybi-Linder syndrome", "MOPD 1", "brachymelic primordial dwarfism", "cephaloskeletal dysplasia", "low-birth-weight dwarfism with skeletal dysplasia", "microcephalic osteodysplastic primordial dwarfism type 1", "microcephalic osteodysplastic primordial dwarfism types 1 and 3", "osteodysplastic primordial dwarfism type I" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome." }, "child_count": 4, "reference_id": "MONDO:0016994" }, { "id": 17424, "label": "osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018776", "Orphanet:2653", "SCTID:722108000" ], "synonyms": [ "Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance." }, "child_count": 0, "reference_id": "MONDO:0017041" }, { "id": 17491, "label": "arthrogryposis-renal dysfunction-cholestasis syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 10090, 16198, 17982 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050763", "GARD:0000794", "MEDGEN:1647210", "MESH:C535382", "OMIMPS:208085", "Orphanet:2697", "SCTID:720513002", "UMLS:C4551984" ], "synonyms": [ "ARC syndrome", "arthrogryposis, renal dysfunction, and cholestasis", "arthrogryposis - renal dysfunction - cholestasis", "arthrogryposis multiplex congenita, renal dysfunction, and cholestasis", "arthrogryposis renal dysfunction cholestasis syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." }, "child_count": 8, "reference_id": "MONDO:0017123" }, { "id": 17493, "label": "oculo-skeletal-renal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:2716" ], "synonyms": [ "oculo skeletal renal syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0017126" }, { "id": 17495, "label": "olivopontocerebellar atrophy-deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004070", "MEDGEN:905095", "Orphanet:2732", "UMLS:C4275113" ], "synonyms": [ "olivopontocerebellar atrophy deafness" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases." }, "child_count": 0, "reference_id": "MONDO:0017135" }, { "id": 17498, "label": "Opitz G/BBB syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 9827, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050780", "DOID:0080697", "GARD:0000193", "ICD9:758.89", "NCIT:C125487", "OMIMPS:300000", "Orphanet:2745", "SCTID:81771002" ], "synonyms": [ "Opitz G syndrome", "Opitz G/BBB syndrome", "Opitz GBBB syndrome", "Opitz syndrome", "Opitz-Frias syndrome", "Opitz-GBBB syndrome", "hypertelorism-oesophageal abnormality-hypospadias syndrome", "hypospadias-dysphagia syndrome", "hypospadias-hypertelorism syndrome", "BBB syndrome", "G syndrome", "GBBB syndrome", "Opitz BBBG syndrome", "Opitz-G syndrome, type 2", "hypertelorism hypospadias syndrome", "hypertelorism with esophageal abnormality and hypospadias", "hypospadias-dysphagia, syndrome", "telecanthus with associated abnormalities" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." }, "child_count": 4, "reference_id": "MONDO:0017138" }, { "id": 17507, "label": "imperforate oropharynx-costo vetebral anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002989", "MEDGEN:1663228", "Orphanet:2759", "UMLS:C4749770" ], "synonyms": [ "Seghers syndrome", "imperforate oropharynx-costo vetebral anomalies", "imperforate oropharynx-costovertebral anomalies syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989." }, "child_count": 0, "reference_id": "MONDO:0017162" }, { "id": 17537, "label": "Bruck syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060231", "GARD:0001029", "ICD9:733.99", "MEDGEN:609420", "MedDRA:10063718", "OMIMPS:259450", "Orphanet:2771", "SCTID:254113006", "UMLS:C0432253", "icd11.foundation:1783996418" ], "synonyms": [ "osteogenesis imperfecta-congenital joint contractures syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures." }, "child_count": 4, "reference_id": "MONDO:0017195" }, { "id": 17541, "label": "osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018778", "Orphanet:2787", "SCTID:716189005" ], "synonyms": [ "Heide syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterized by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family." }, "child_count": 0, "reference_id": "MONDO:0017199" }, { "id": 17555, "label": "calciphylaxis", "isLeaf": false, "isRoot": false, "parents": [ 4258, 4370, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4734", "GARD:0005980", "ICD9:275.49", "MEDGEN:2404", "MESH:D002115", "MedDRA:10051714", "NCIT:C84607", "Orphanet:280062", "SCTID:237900002", "UMLS:C0006666", "icd11.foundation:574291789" ], "synonyms": [ "idiopathic calciphylaxis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition." }, "child_count": 6, "reference_id": "MONDO:0017215" }, { "id": 17571, "label": "recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021083", "MEDGEN:1659846", "Orphanet:280384", "UMLS:C4749580" ], "synonyms": [ "IDMDC" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position." }, "child_count": 0, "reference_id": "MONDO:0017232" }, { "id": 17598, "label": "X-linked ichthyosis syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4198, 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021109", "MedDRA:10048063", "Orphanet:281210" ], "synonyms": [ "X-linked inherited ichthyosis syndromic form", "inherited ichthyosis syndromic form, X-linked" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "X-linked form of inherited ichthyosis syndromic form." }, "child_count": 4, "reference_id": "MONDO:0017269" }, { "id": 17602, "label": "autoimmune polyendocrinopathy", "isLeaf": false, "isRoot": false, "parents": [ 2997, 4370, 16071 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14040", "GARD:0021116", "ICD10CM:E31.0", "ICD9:258.8", "MEDGEN:39042", "NANDO:2100125", "NCIT:C129726", "NCIT:C84576", "NORD:790", "Orphanet:282196", "SCTID:41864002", "UMLS:C0085409", "icd11.foundation:548357900" ], "synonyms": [ "APS", "Antiphospholipid Syndrome", "autoimmune polyendocrine syndrome", "autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome", "autoimmune polyendocrinopathy", "autoimmune polyendocrinopathy syndrome", "autoimmune polyglandular failure", "autoimmune polyglandular syndrome", "autoimmune polyglandular syndrome(s)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues." }, "child_count": 12, "reference_id": "MONDO:0017278" }, { "id": 17605, "label": "renal caliceal diverticuli-deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004655", "MEDGEN:1676118", "Orphanet:2838", "UMLS:C5190738" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0017281" }, { "id": 17610, "label": "tempi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010962", "MEDGEN:886502", "NCIT:C121656", "Orphanet:284227", "SCTID:718614004", "UMLS:C3854394" ], "synonyms": [ "telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome", "telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting." }, "child_count": 0, "reference_id": "MONDO:0017286" }, { "id": 17626, "label": "syndromic oculocutaneous albinism", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18283, 19141, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021125", "MEDGEN:1843078", "Orphanet:284811", "UMLS:C5681016" ], "synonyms": [ "syndrome associated with oculocutaneous albinism", "syndromic oculocutaneous albinism" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A oculocutaneous albinism that is part of a larger syndrome." }, "child_count": 16, "reference_id": "MONDO:0017305" }, { "id": 17635, "label": "short stature-deafness-neutrophil dysfunction-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004841", "MEDGEN:906653", "Orphanet:2866", "SCTID:716192009", "UMLS:C4274785" ], "synonyms": [ "thong-Douglas-Ferrante syndrome", "short stature deafness neutrophil dysfunction", "thong Douglas Ferrante syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterized by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections)." }, "child_count": 0, "reference_id": "MONDO:0017316" }, { "id": 17683, "label": "congenital varicella syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6834, 17014 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000045", "ICD9:771.2", "MEDGEN:87473", "NCIT:C116800", "NORD:1003", "Orphanet:291", "SCTID:277644009", "UMLS:C0343560", "icd11.foundation:2071159826" ], "synonyms": [ "antenatal varicella virus infection", "mother-to-child transmission of varicella syndrome", "Varicella embryopathy", "Varicella virus antenatal infection", "fetal effects of chickenpox", "fetal effects of varicella zoster virus", "fetal varicella infection", "fetal varicella zoster syndrome", "foetal effects of chickenpox", "foetal effects of varicella zoster virus", "foetal varicella infection", "foetal varicella zoster syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection." }, "child_count": 0, "reference_id": "MONDO:0017372" }, { "id": 17688, "label": "polyneuropathy-intellectual disability-acromicria-premature menopause syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004424", "MEDGEN:1665486", "Orphanet:2928", "UMLS:C4749397" ], "synonyms": [ "Lundberg syndrome", "polyneuropathy - intellectual deficit - acromicria - premature menopause", "polyneuropathy intellectual disability acromicria premature menopause", "polyneuropathy mental retardation acromicria premature menopause" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971." }, "child_count": 0, "reference_id": "MONDO:0017379" }, { "id": 17697, "label": "celiac trunk compression syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2933, 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9892", "GARD:0012308", "ICD10CM:I77.4", "ICD9:447.4", "MEDGEN:349361", "MESH:C566151", "NORD:1957", "OMIM:116870", "Orphanet:293208", "SCTID:9250002", "UMLS:C1861783", "icd11.foundation:1666443751" ], "synonyms": [ "Dunbar syndrome", "celiac artery compression syndrome", "celiac artery stenosis from compression by median arcuate ligament of diaphragm", "coeliac artery compression syndrome", "median arcuate ligament syndrome", "median arcuate ligament syndromic disease", "syndromic disease of median arcuate ligament", "celiac access syndrome", "coeliac access syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation." }, "child_count": 0, "reference_id": "MONDO:0017388" }, { "id": 17707, "label": "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005237", "MEDGEN:411637", "OMIM:615710", "Orphanet:293864", "UMLS:C2748662" ], "synonyms": [ "Mitchell-Riley syndrome", "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome", "MTCHRS", "diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia", "hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated." }, "child_count": 0, "reference_id": "MONDO:0017400" }, { "id": 17716, "label": "fetal cytomegalovirus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6856, 23097 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001480", "MEDGEN:578789", "NANDO:2200891", "NCIT:C122427", "Orphanet:294", "SCTID:276701009", "UMLS:C0349499", "icd11.foundation:1515465998" ], "synonyms": [ "antenatal CMV infection", "antenatal cytomegalovirus infection", "congenital Cytomegaloviral infection", "mother-to-child transmission of cytomegalovirus syndrome", "CMV antenatal infection", "congenital cytomegalovirus" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An infection with the Cytomegalovirus that is present from birth." }, "child_count": 0, "reference_id": "MONDO:0017409" }, { "id": 17719, "label": "Reunion island Larsen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17978 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025094", "Orphanet:294049" ], "synonyms": [ "RLS", "multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0017413" }, { "id": 17854, "label": "46,XX disorder of sex development-anorectal anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17857 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018782", "MEDGEN:1382292", "Orphanet:2973", "UMLS:C4518078" ], "synonyms": [ "female pseudohermaphroditism-anorectal anomalies syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut." }, "child_count": 0, "reference_id": "MONDO:0017573" }, { "id": 17856, "label": "mitochondrial neurogastrointestinal encephalomyopathy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4427, 10856, 19102, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009920", "MEDGEN:167876", "MESH:C537477", "NCIT:C119678", "NORD:1449", "Orphanet:298", "SCTID:718214007", "UMLS:C0872218" ], "synonyms": [ "MNGIE", "Mitochondrial Neurogastrointestinal Encephalopathy", "Mitochondrial neurogastrointestinal encephalopathy", "mitochondrial Neurogastrointestingal encephalopathy", "MNGIE syndrome", "OGIMD", "POLIP", "mitochondrial neurogastrointestinal encephalopathy syndrome", "myoneurogastrointestinal encephalopathy syndrome", "oculogastrointestinal muscular dystrophy", "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction", "thymidine phosphorylase deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy." }, "child_count": 20, "reference_id": "MONDO:0017575" }, { "id": 17860, "label": "Baraitser-Winter cerebrofrontofacial syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16087, 18774 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060229", "GARD:0005279", "ICD9:759.89", "MEDGEN:340016", "OMIMPS:243310", "Orphanet:2995", "SCTID:702410002", "UMLS:C1853623" ], "synonyms": [ "Baraitser-Winter syndrome", "BRWS", "Fryns-Aftimos syndrome", "cerebro-frontofacial syndrome, type 3", "iris coloboma with ptosis hypertelorism and intellectual disability", "iris coloboma with ptosis hypertelorism and mental retardation", "trigonocephaly ptosis coloboma", "trigonocephaly ptosis intellectual disability", "trigonocephaly ptosis mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients." }, "child_count": 6, "reference_id": "MONDO:0017579" }, { "id": 17863, "label": "mirror polydactyly-vertebral segmentation-limbs defects syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018784", "MEDGEN:904039", "Orphanet:3004", "UMLS:C4275100" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene." }, "child_count": 0, "reference_id": "MONDO:0017583" }, { "id": 17890, "label": "intellectual disability-hypotonia-skin hyperpigmentation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:3050" ], "synonyms": [ "Medrano-Roldan syndrome", "Medrano Roldan syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0017613" }, { "id": 17904, "label": "congenital hereditary facial paralysis-variable hearing loss syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 21213 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017379", "MEDGEN:928261", "Orphanet:306530", "SCTID:722389002", "UMLS:C4302592" ], "synonyms": [ "congenital hereditary facial palsy with variable deafness", "congenital hereditary facial palsy with variable hearing loss", "congenital hereditary facial paralysis with variable deafness", "congenital hereditary facial paralysis-variable deafness syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus." }, "child_count": 4, "reference_id": "MONDO:0017627" }, { "id": 17912, "label": "intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:3067" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0017642" }, { "id": 17995, "label": "Mayer-Rokitansky-Kuster-Hauser syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16575 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112177", "GARD:0005445", "MEDGEN:140915", "MedDRA:10065148", "NCIT:C124853", "NORD:1412", "Orphanet:3109", "SCTID:8793008", "UMLS:C0431648" ], "synonyms": [ "MRKH", "MRKH syndrome", "Mayer-Rokitansky-Küster-Hauser Syndrome", "Mullerian aplasia/dysgenesis", "Rokitansky Kuster Hauser syndrome", "Rokitansky syndrome", "Mayer-Rokitansky-Küster-Hauser syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)." }, "child_count": 4, "reference_id": "MONDO:0017771" }, { "id": 18005, "label": "developmental and speech delay due to SOX5 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017415", "MEDGEN:1660895", "Orphanet:313892", "UMLS:C4749915" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities)." }, "child_count": 0, "reference_id": "MONDO:0017782" }, { "id": 18019, "label": "Spigelian hernia-cryptorchidism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021371", "MEDGEN:1662076", "Orphanet:314432", "UMLS:C4751074" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0017798" }, { "id": 18025, "label": "autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021378", "MEDGEN:1654941", "Orphanet:314572", "UMLS:C4749919" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures." }, "child_count": 0, "reference_id": "MONDO:0017804" }, { "id": 18032, "label": "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17323, 29295 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021383", "MEDGEN:1636705", "Orphanet:314655", "SCTID:768555009", "UMLS:C4708510" ], "synonyms": [ "5q31.3 microdeletion syndrome", "Del(5)(q31.3)", "monosomy 5q31.3" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene." }, "child_count": 0, "reference_id": "MONDO:0017811" }, { "id": 18055, "label": "multiple sclerosis-ichthyosis-factor VIII deficiency syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4359, 4360, 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018787", "MEDGEN:1391655", "Orphanet:3151", "UMLS:C4518551" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." }, "child_count": 0, "reference_id": "MONDO:0017837" }, { "id": 18071, "label": "X-linked spasticity-intellectual disability-epilepsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016622", "MEDGEN:1376165", "Orphanet:3175", "UMLS:C4510949" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0017856" }, { "id": 18072, "label": "spina bifida-hypospadias syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004940", "MEDGEN:1638294", "Orphanet:3176", "UMLS:C4706660" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis." }, "child_count": 0, "reference_id": "MONDO:0017857" }, { "id": 18093, "label": "hantavirus pulmonary syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6971, 7400, 18247, 21376, 23869 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14472", "EFO:0007296", "GARD:0000069", "ICD9:480.8", "MEDGEN:66205", "MESH:D018804", "MedDRA:10019143", "NCIT:C84747", "NORD:1216", "Orphanet:319247", "SCTID:120639003", "UMLS:C0243025", "icd11.foundation:582624609" ], "synonyms": [ "HARDS", "Hantavirus", "Hantavirus-associated respiratory distress syndrome", "four corners hantavirus" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems." }, "child_count": 0, "reference_id": "MONDO:0017879" }, { "id": 18119, "label": "white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012488", "MEDGEN:419038", "MESH:C536701", "Orphanet:3207", "UMLS:C2931292" ], "synonyms": [ "Curatolo-Cilio-Pessagno syndrome", "Curatolo Cilio Pessagno syndrome", "familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition." }, "child_count": 0, "reference_id": "MONDO:0017918" }, { "id": 18121, "label": "deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004303", "MEDGEN:419464", "MESH:C537887", "Orphanet:3224", "SCTID:721086004", "UMLS:C2931654" ], "synonyms": [ "Pfeiffer-Kapferer syndrome", "Pfeiffer Kapferer syndrome", "sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5", "short stature, intellectual disability and multiple dysmorphisms", "short stature, mental retardation and multiple dysmorphisms" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance)." }, "child_count": 0, "reference_id": "MONDO:0017920" }, { "id": 18122, "label": "hearing loss-familial salivary gland insensitivity to aldosterone syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018788", "MEDGEN:419395", "MESH:C536927", "Orphanet:3225", "SCTID:716239006", "UMLS:C2931369" ], "synonyms": [ "Tungland-Bellman syndrome", "Tunglang savage Bellman syndrome", "hearing loss and familial salivary gland insensitivity to aldosterone", "hearing loss insensitivity to aldosterone" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0017921" }, { "id": 18123, "label": "multiple synostoses syndrome", "isLeaf": false, "isRoot": false, "parents": [ 3632, 4370, 5714, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050794", "GARD:0003836", "MEDGEN:511579", "OMIMPS:186500", "Orphanet:3237", "UMLS:C0175700", "icd11.foundation:248917534" ], "synonyms": [ "WL syndrome", "deafness-Hermann type symphalangism syndrome", "facio-audio-symphalangism", "symphalangism-brachydactyly syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." }, "child_count": 16, "reference_id": "MONDO:0017923" }, { "id": 18124, "label": "central nervous system calcification-deafness-tubular acidosis-anemia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018789", "MEDGEN:1384620", "Orphanet:3240", "UMLS:C4512024" ], "synonyms": [ "Yoshimura-Takeshita syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family." }, "child_count": 0, "reference_id": "MONDO:0017924" }, { "id": 18158, "label": "syngnathia multiple anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005092", "MEDGEN:1678646", "Orphanet:3262", "UMLS:C5190737" ], "synonyms": [ "dobrow syndrome", "syngnathia-multiple anomalies syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0017980" }, { "id": 18167, "label": "Takayasu arteritis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16127, 20028, 23218 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2508", "EFO:1001857", "GARD:0007730", "ICD10CM:M31.4", "ICD9:446.7", "MEDGEN:21458", "MESH:D013625", "MedDRA:10043097", "NANDO:1200251", "NANDO:2200423", "NCIT:C34391", "NCIT:C35062", "NORD:806", "OMIM:207600", "Orphanet:3287", "Orphanet:99079", "SCTID:239937004", "UMLS:C0039263", "icd11.foundation:1327645131" ], "synonyms": [ "Arteritis, Takayasu", "Takayasu arteritis", "Takayasu's arteritis", "Takayasu's disease", "aortic arch arteritis", "aortic arch syndrome", "cervical aortic arch", "idiopathic aortitis", "pharyngeal arch artery syndromic disease", "TA", "Takayasu disease", "Young female arteritis", "pulseless disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm." }, "child_count": 0, "reference_id": "MONDO:0017991" }, { "id": 18170, "label": "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021486", "MEDGEN:1674241", "Orphanet:329249", "UMLS:C5190989" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0017994" }, { "id": 18171, "label": "spondylocostal dysostosis-hypospadias-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025124", "MEDGEN:1665083", "Orphanet:329252", "UMLS:C4751002" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0017995" }, { "id": 18195, "label": "hypotrichosis-deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021504", "MEDGEN:1679303", "Orphanet:330029", "UMLS:C5190988" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0018021" }, { "id": 18206, "label": "thalidomide embryopathy", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17143, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:759.89", "MEDGEN:98490", "MedDRA:10071249", "NCIT:C99082", "Orphanet:3312", "SCTID:36193003", "UMLS:C0432365", "icd11.foundation:299085643" ], "synonyms": [ "fetal thalidomide syndrome", "foetal thalidomide syndrome", "thalidomide embryopathy syndrome", "thalidomide-induced birth defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment." }, "child_count": 0, "reference_id": "MONDO:0018034" }, { "id": 18229, "label": "trisomy X", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19578, 24425, 24461 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005672", "MEDGEN:113140", "MESH:C535318", "NCIT:C129718", "NORD:1798", "Orphanet:3375", "SCTID:35111009", "UMLS:C0221033", "icd11.foundation:423644907" ], "synonyms": [ "47,XXX", "47,XXX syndrome", "Triplo-X syndrome", "XXX syndrome", "triple X syndrome", "trisomy X", "trisomy type X", "47 XXX syndrome", "Triplo X syndrome", "triple-X chromosome syndrome", "triple-X female" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." }, "child_count": 0, "reference_id": "MONDO:0018066" }, { "id": 18231, "label": "trisomy 13", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19767, 24418, 24461 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11665", "GARD:0007341", "ICD9:758.1", "MEDGEN:56261", "MESH:C536305", "MedDRA:10044686", "NANDO:2200964", "NCIT:C101223", "NCIT:C36529", "NORD:1796", "Orphanet:3378", "SCTID:21111006", "UMLS:C0152095", "icd11.foundation:1435958084" ], "synonyms": [ "Patau syndrome", "Patau's syndrome", "Trisomy 13 Syndrome", "trisomy 13", "trisomy type 13", "D trisomy syndrome (formerly)", "D1 trisomy", "chromosome 13, trisomy 13 complete" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation." }, "child_count": 8, "reference_id": "MONDO:0018068" }, { "id": 18234, "label": "trisomy 18", "isLeaf": false, "isRoot": false, "parents": [ 4370, 24461, 24520 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1085", "GARD:0006321", "ICD9:758.2", "MEDGEN:1384417", "MESH:C580500", "MedDRA:10053884", "NANDO:2200963", "NCIT:C36626", "NORD:1797", "Orphanet:3380", "SCTID:51500006", "UMLS:C4317091", "icd11.foundation:1505179968" ], "synonyms": [ "E3 trisomy", "Edwards syndrome", "chromosome 18 duplication", "complete trisomy 18 syndrome", "trisomy 18", "trisomy type 18", "18 trisomy", "chromosome 18 trisomy", "trisomy 16-18 (formerly)", "trisomy E (formerly)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations." }, "child_count": 6, "reference_id": "MONDO:0018071" }, { "id": 18245, "label": "umbilical cord ulceration-intestinal atresia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6151 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005403", "MEDGEN:419062", "MESH:C536938", "Orphanet:3405", "UMLS:C2931371" ], "synonyms": [ "umbilical cord ulcer with intestinal atresia", "umbilical cord ulceration and intestinal atresia", "umbilical ulceration and intestinal atresia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Umbilical cord ulceration-intestinal atresia syndrome is characterized by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine hemorrhage." }, "child_count": 0, "reference_id": "MONDO:0018085" }, { "id": 18251, "label": "microcephaly-brachydactyly-kyphoscoliosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6893, 16087, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005490", "MEDGEN:419731", "MESH:C536349", "Orphanet:3433", "SCTID:719378009", "UMLS:C2931177" ], "synonyms": [ "Viljoen-Kallis-Voges syndrome", "Viljoen Kallis Voges syndrome", "microcephaly brachydactyly kyphoscoliosis", "microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0018091" }, { "id": 18254, "label": "Waardenburg syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9258", "GARD:0005525", "MEDGEN:473809", "MESH:D014849", "MedDRA:10069203", "NCIT:C85222", "NORD:1832", "OMIMPS:193500", "Orphanet:3440", "SCTID:715952000", "UMLS:C3266898", "icd11.foundation:304883627" ], "synonyms": [ "Waardenburg syndrome", "Waardenburg's syndrome", "Mende syndrome", "Van der Hoeve Halbertsma Waardenburg Gualdi syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." }, "child_count": 15, "reference_id": "MONDO:0018094" }, { "id": 18256, "label": "Weill-Marchesani syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2905, 4370, 16089, 19473 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050475", "GARD:0004936", "ICD9:759.89", "MEDGEN:82705", "MESH:D056846", "MedDRA:10064963", "NCIT:C85226", "NORD:1842", "OMIMPS:277600", "Orphanet:3449", "SCTID:2884008", "UMLS:C0265313" ], "synonyms": [ "Weill Marchesani Syndrome", "spherophakia-brachymorphia syndrome", "WM syndrome", "WMS", "mesodermal dysmorphodystrophy congenital" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma." }, "child_count": 16, "reference_id": "MONDO:0018096" }, { "id": 18257, "label": "infantile spasms", "isLeaf": false, "isRoot": false, "parents": [ 4370, 25074 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050562", "GARD:0007887", "ICD9:345.60", "ICD9:348.89", "MEDGEN:11519", "MedDRA:10021750", "NANDO:1200592", "NANDO:2200878", "NCIT:C84788", "NORD:1848", "Orphanet:3451", "Orphanet:697160", "SCTID:28055006", "UMLS:C0037769", "icd11.foundation:1023597213" ], "synonyms": [ "IESS", "West syndrome", "West's syndrome", "infantile epileptic spasms syndrome", "infantile spasms", "infantile spasms syndrome", "intellectual disability-hypsarrhythmia syndrome", "X-linked infantile spasm syndrome", "X-linked infantile spasms", "tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome." }, "child_count": 16, "reference_id": "MONDO:0018097" }, { "id": 18263, "label": "Wolfram syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10632", "GARD:0007898", "ICD9:250.80", "MEDGEN:21923", "MESH:D014929", "NANDO:1200757", "NCIT:C35133", "Orphanet:3463", "SCTID:70694009", "UMLS:C0043207", "icd11.foundation:151381747" ], "synonyms": [ "DIDMOAD", "DIDMOAD syndrome", "Wolfram syndrome", "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome", "diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome", "diabetes mellitus and insipidus with optic atrophy and deafness" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." }, "child_count": 3, "reference_id": "MONDO:0018105" }, { "id": 18268, "label": "epidermal nevus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018813", "MEDGEN:1847175", "MedDRA:10014985", "Orphanet:35125", "SCTID:239112008", "UMLS:C5848385" ], "synonyms": [ "Epidermal hamartoma syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." }, "child_count": 0, "reference_id": "MONDO:0018115" }, { "id": 18272, "label": "digital anomalies-intellectual disability-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:352487" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0018122" }, { "id": 18273, "label": "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021521", "MEDGEN:1644787", "Orphanet:352530", "UMLS:C4706414" ], "synonyms": [ "autosomal recessive intellectual disability due to TRAPPC9 deficiency", "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features." }, "child_count": 0, "reference_id": "MONDO:0018123" }, { "id": 18298, "label": "Erdheim-Chester disease", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16345 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4329", "EFO:1000926", "GARD:0006369", "ICD9:277.89", "MEDGEN:163902", "MESH:D031249", "MedDRA:10060801", "NANDO:2200038", "NCIT:C53972", "NORD:1102", "ONCOTREE:ECD", "Orphanet:35687", "SCTID:699537002", "UMLS:C0878675", "icd11.foundation:1395439137", "icd11.foundation:146718003" ], "synonyms": [ "Erdheim Chester Disease", "Erdheim-Chester disease", "lipogranulomatosis", "polyostotic sclerosing histiocytosis", "ECD", "Erdheim Chester disease", "lipoid granulomatosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement." }, "child_count": 0, "reference_id": "MONDO:0018153" }, { "id": 18359, "label": "Stevens-Johnson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19551 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050426", "EFO:0004276", "GARD:0007700", "ICD10CM:L51.1", "ICD9:695.12", "ICD9:695.13", "MEDGEN:20955", "MESH:D013262", "MedDRA:10042033", "NANDO:1200245", "NANDO:2100290", "NANDO:2201006", "NCIT:C79484", "OMIM:608579", "Orphanet:36426", "SCTID:73442001", "UMLS:C0038325", "icd11.foundation:450167795" ], "synonyms": [ "Dermatostomatitis, Stevens Johnson type", "Stevens Johnson syndrome", "Stevens-Johnson syndrome, susceptibility to", "erythema multiforme major", "hypersensitivity syndrome, carbamazepine-induced, susceptibility to", "severe cutaneous adverse reaction, susceptibility to", "toxic Epidermal necrolysis, susceptibility to" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area." }, "child_count": 0, "reference_id": "MONDO:0018229" }, { "id": 18369, "label": "CADDS", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16198, 18952, 18955 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012472", "Orphanet:369942" ], "synonyms": [ "CADDS", "Zellweger-like contiguous gene deletion syndrome", "contiguous ABCD1 DXS1357E deletion syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly)." }, "child_count": 0, "reference_id": "MONDO:0018247" }, { "id": 18371, "label": "finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021584", "MEDGEN:1673147", "Orphanet:369979", "UMLS:C5190599" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0018249" }, { "id": 18385, "label": "ataxia - telangiectasia variant", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19719 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021597", "MEDGEN:406286", "Orphanet:370109", "UMLS:C1876175" ], "synonyms": [ "v-AT" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present." }, "child_count": 0, "reference_id": "MONDO:0018266" }, { "id": 18413, "label": "growth retardation-mild developmental delay-chronic hepatitis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6151 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021621", "MEDGEN:1654119", "Orphanet:391366", "UMLS:C4751595" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018317" }, { "id": 18415, "label": "primary microcephaly-mild intellectual disability-young-onset diabetes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017620", "MEDGEN:1675765", "Orphanet:391408", "UMLS:C5190597" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0018320" }, { "id": 18433, "label": "ferro-cerebro-cutaneous syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18954, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021637", "MEDGEN:1658844", "OMIM:301072", "Orphanet:397922", "UMLS:C4751570" ], "synonyms": [ "FCCS", "cerebro-cutaneous syndrome with iron overload" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth." }, "child_count": 0, "reference_id": "MONDO:0018346" }, { "id": 18516, "label": "dystonia-aphonia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19719 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021739", "MEDGEN:1675660", "Orphanet:412217", "UMLS:C5190573" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018476" }, { "id": 18540, "label": "microcephaly-complex motor and sensory axonal neuropathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021762", "MEDGEN:1637079", "Orphanet:423894", "UMLS:C4706585" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." }, "child_count": 0, "reference_id": "MONDO:0018507" }, { "id": 18578, "label": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017721", "MEDGEN:1812501", "Orphanet:435938", "UMLS:C5681178" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding." }, "child_count": 0, "reference_id": "MONDO:0018569" }, { "id": 18581, "label": "severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021817", "MEDGEN:1808836", "Orphanet:436141", "UMLS:C5681179" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0018572" }, { "id": 18582, "label": "intrauterine growth restriction-short stature-early adult-onset diabetes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021818", "MEDGEN:1801791", "Orphanet:436144", "UMLS:C5681180" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0018573" }, { "id": 18584, "label": "pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20387 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021820", "MEDGEN:1810682", "Orphanet:436274", "UMLS:C5680045" ], "synonyms": [ "PXE-like syndrome with retinitis pigmentosa" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0018577" }, { "id": 18634, "label": "familial chylomicronemia syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111417", "GARD:0006414", "MEDGEN:1778100", "Orphanet:444490", "UMLS:C5442313" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare autosomal recessive disease characterized by the buildup in the blood of fat particles called chylomicrons (chylomicronemia), severe hypertriglyceridemia, and the risk of recurrent and potentially fatal pancreatitis and other complications. It is caused by mutations in the gene encoding LPL or, less frequently, by mutations in genes encoding other proteins necessary for LPL function." }, "child_count": 5, "reference_id": "MONDO:0018637" }, { "id": 18636, "label": "caudal regression-sirenomelia spectrum", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021862", "MEDGEN:1843168", "Orphanet:444941", "UMLS:C5681198" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported." }, "child_count": 2, "reference_id": "MONDO:0018639" }, { "id": 18668, "label": "visceral heterotaxy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 19327 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050545", "GARD:0010875", "MEDGEN:465273", "MedDRA:10059119", "MedDRA:10067265", "NCIT:C117273", "OMIMPS:306955", "Orphanet:157769", "Orphanet:450", "SCTID:14821001", "UMLS:C3178805", "icd11.foundation:780273165" ], "synonyms": [ "heterotaxia", "heterotaxia syndrome", "heterotaxy syndrome", "heterotaxy, visceral", "incomplete situs inversus", "lateralization defect", "partial situs inversus", "situs ambiguous", "situs ambiguus", "visceral heterotaxy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton." }, "child_count": 57, "reference_id": "MONDO:0018677" }, { "id": 18681, "label": "Holmes-Adie syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11549", "EFO:0004126", "GARD:0005749", "MEDGEN:138", "MESH:D000270", "NCIT:C34357", "NORD:735", "OMIM:103100", "Orphanet:454718", "SCTID:24225004", "UMLS:C0001519" ], "synonyms": [ "Adie Syndrome", "Adie pupil", "Adie syndrome", "Adie's pupil", "Holmes-Adie syndrome", "tonic pupil", "tonic pupil-tendon areflexia syndrome", "poorly Reacting pupils", "tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye." }, "child_count": 0, "reference_id": "MONDO:0018690" }, { "id": 18729, "label": "microcephalic primordial dwarfism due to RTTN deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017841", "MEDGEN:766745", "OMIM:614833", "Orphanet:468631", "UMLS:C3553831" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported." }, "child_count": 2, "reference_id": "MONDO:0018764" }, { "id": 18736, "label": "Joubert syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7000, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050777", "GARD:0006802", "MEDGEN:1876534", "NCIT:C74996", "NORD:1312", "OMIMPS:213300", "Orphanet:475", "SCTID:716997004", "UMLS:C5979921", "icd11.foundation:1414756318" ], "synonyms": [ "CPD IV", "Joubert syndrome", "Joubert syndrome type A", "Joubert-Boltshauser syndrome", "cerebelloparenchymal disorder IV", "classic Joubert syndrome", "pure Joubert syndrome", "cerebellar vermis agenesis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." }, "child_count": 117, "reference_id": "MONDO:0018772" }, { "id": 18740, "label": "congenital generalized hypercontractile muscle stiffness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19669, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021956", "MEDGEN:1799212", "Orphanet:476406", "UMLS:C5567789" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0018780" }, { "id": 18747, "label": "Kallmann syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18569 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3614", "GARD:0010771", "ICD9:253.4", "MEDGEN:102469", "MESH:D017436", "MedDRA:10053142", "NANDO:2200381", "NCIT:C75479", "NORD:1319", "Orphanet:478", "SCTID:93559003", "UMLS:C0162809" ], "synonyms": [ "Olfacto-genital pathological sequence", "congenital hypogonadotropic hypogonadism with anosmia", "hypogonadotropic hypogonadism with anosmia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." }, "child_count": 36, "reference_id": "MONDO:0018800" }, { "id": 18753, "label": "Caroli syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6624 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081394", "GARD:0021976", "MEDGEN:1814547", "NANDO:2200934", "Orphanet:480520", "UMLS:C5700203" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present with recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease." }, "child_count": 0, "reference_id": "MONDO:0018808" }, { "id": 18763, "label": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013638", "MEDGEN:1798946", "Orphanet:480880", "UMLS:C5567523" ], "synonyms": [ "X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females", "X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0018821" }, { "id": 18795, "label": "microlissencephaly-micromelia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018840", "MEDGEN:1377242", "Orphanet:50810", "UMLS:C4509878" ], "synonyms": [ "Basel-Vanagaite-Sirota syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case." }, "child_count": 0, "reference_id": "MONDO:0018860" }, { "id": 18810, "label": "branchiootic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060232", "GARD:0010148", "MEDGEN:1636666", "MESH:C537104", "NANDO:1200675", "OMIMPS:602588", "Orphanet:52429", "SCTID:764810000", "UMLS:C4273131" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space)." }, "child_count": 9, "reference_id": "MONDO:0018878" }, { "id": 18823, "label": "Plummer-Vinson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17108 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008259", "ICD10CM:D50.1", "ICD9:280.8", "MEDGEN:45967", "MESH:D011004", "MedDRA:10040664", "NCIT:C85016", "Orphanet:54028", "SCTID:80126007", "UMLS:C0032249", "icd11.foundation:1568337509" ], "synonyms": [ "Kelly-Paterson syndrome", "Sideropenic dysphagia", "Kelly's syndrome", "Paterson's syndrome", "Paterson-Brown-Kelly syndrome", "Paterson-Kelly syndrome", "Paterson’s syndrome", "Plummer Vinson syndrome", "dysphagia sideropenica" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs." }, "child_count": 0, "reference_id": "MONDO:0018895" }, { "id": 18839, "label": "Cushing syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003099", "GARD:0006224", "ICD10CM:E24", "ICD10WHO:E24", "ICD9:255.0", "MEDGEN:3681", "MESH:D003480", "MedDRA:10011652", "MedDRA:10020562", "MedDRA:10020564", "MedDRA:10020610", "NCIT:C2969", "Orphanet:553", "UMLS:C0010481", "icd11.foundation:1654321425" ], "synonyms": [ "hypercortisolism", "Cushing syndrome", "Cushing's syndrome", "cortisol Excess", "hyperadrenocorticism", "pituitary basophilism", "suprarenogenic syndrome", "adrenal hyperfunction resulting from pituitary ACTH excess", "ectopic adrenocorticotropic hormone syndrome", "nodular primary adrenocortical dysplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin." }, "child_count": 2, "reference_id": "MONDO:0018912" }, { "id": 18843, "label": "McCune-Albright syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1858", "GARD:0006995", "MEDGEN:69164", "NANDO:2200412", "NCIT:C48627", "NORD:1413", "OMIM:174800", "Orphanet:562", "SCTID:726029005", "UMLS:C0242292", "icd11.foundation:132749439" ], "synonyms": [ "Albright's disease", "MAS", "McCune Albright Syndrome", "McCune Albright syndrome", "gonadotropin-independent female-limited sexual precocity", "mccune-albright syndrome, somatic, mosaic", "PFD", "POFD", "polyostotic fibrous dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP)." }, "child_count": 0, "reference_id": "MONDO:0018919" }, { "id": 18845, "label": "Meckel syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7000, 23110 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050778", "GARD:0003436", "ICD9:753.1", "ICD9:753.10", "ICD9:759.89", "MEDGEN:120513", "NCIT:C98978", "OMIMPS:249000", "Orphanet:564", "SCTID:29076005", "UMLS:C0265215", "icd11.foundation:695796893" ], "synonyms": [ "Meckel-Gruber syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia." }, "child_count": 42, "reference_id": "MONDO:0018921" }, { "id": 18851, "label": "SUNCT syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16344 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009257", "MEDGEN:224724", "MESH:D050798", "MedDRA:10061981", "NCIT:C85174", "Orphanet:57145", "SCTID:725058003", "UMLS:C1262087" ], "synonyms": [ "SUNCT headache", "short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing", "short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing)." }, "child_count": 0, "reference_id": "MONDO:0018927" }, { "id": 18859, "label": "mucopolysaccharidosis type 3", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7061, 19111 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12801", "GARD:0003807", "MEDGEN:6452", "MedDRA:10056890", "NANDO:1200100", "NANDO:2200549", "NCIT:C61262", "NORD:1463", "Orphanet:581", "SCTID:88393000", "UMLS:C0026706", "icd11.foundation:1477250013" ], "synonyms": [ "MPS3", "MPSIII", "Mucopoly-saccharidosis type 3", "Mucopolysaccharidosis Type III", "Sanfilippo disease", "Sanfilippo syndrome", "heparan sulphate sulfatase deficiency", "mucopolysaccharidosis type III" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A lysosomal disease characterized by progressive neurocognitive decline, severe intellectual deterioration, loss of functional abilities, and premature death." }, "child_count": 12, "reference_id": "MONDO:0018937" }, { "id": 18860, "label": "mucopolysaccharidosis type 4", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19111 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12804", "GARD:0012562", "MEDGEN:44513", "MedDRA:10028095", "NANDO:1200105", "NANDO:2200550", "NCIT:C61263", "NORD:1455", "Orphanet:582", "SCTID:378007", "UMLS:C0026707", "icd11.foundation:2078241550" ], "synonyms": [ "MPS4", "MPSIV", "Morquio disease", "Morquio syndrome", "Mucopolysaccharidosis IV", "eccentro-osteochondrodysplasia", "eccentrochondrodysplasia", "eccentroosteochondrodysplasia", "mucopolysaccharidosis IV", "mucopolysaccharidosis type 4", "mucopolysaccharidosis type IV", "MPS IV - Morquio syndrome A", "MPS IV - Morquio syndrome B", "Morquio A disease", "Morquio syndrome A", "deficiency of N-acetylgalactosamine-6-sulphatase", "galactosamine-6-sulfatase deficiency", "mucopolysaccharidosis type IVA", "mucopolysaccharidosis type IVB", "mucopolysaccharidosis, MPS-IV-A" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B." }, "child_count": 6, "reference_id": "MONDO:0018938" }, { "id": 18862, "label": "congenital myasthenic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19747, 24271 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3635", "GARD:0011902", "ICD9:358.00", "ICD9:V17.89", "MEDGEN:155650", "MESH:D020294", "NANDO:1200021", "NCIT:C84647", "NORD:1893", "OMIMPS:601462", "Orphanet:590", "SCTID:230672006", "UMLS:C0751882", "icd11.foundation:1515367530" ], "synonyms": [ "CMS", "Congenital Myasthenic Syndromes", "myasthenic syndrome, congenital", "congenital MG", "congenital myasthenia", "erb-Goldflam syndrome", "familial limb-girdle myasthenia", "myasthenia gravis congenital", "myasthenia gravis pseudoparalytica" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness." }, "child_count": 24, "reference_id": "MONDO:0018940" }, { "id": 18876, "label": "Loeys-Dietz syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 7065, 17630 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050466", "GARD:0010788", "ICD9:759.89", "MEDGEN:395827", "MESH:D055947", "NANDO:2200969", "NCIT:C75006", "NORD:91173", "OMIMPS:609192", "Orphanet:60030", "SCTID:446263001", "UMLS:C2697932" ], "synonyms": [ "Loeys-Dietz syndrome", "aortic aneurysm syndrome due to TGF-beta receptors anomalies", "aortic aneurysm syndrome, Loeys-Dietz type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum." }, "child_count": 24, "reference_id": "MONDO:0018954" }, { "id": 18887, "label": "Alport syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7021 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10983", "GARD:0005785", "ICD10CM:Q87.81", "MEDGEN:339209", "MedDRA:10001843", "NANDO:1200712", "NANDO:2200126", "NCIT:C34842", "NORD:756", "OMIMPS:301050", "Orphanet:63", "UMLS:C1567741", "icd11.foundation:1170919425" ], "synonyms": [ "hereditary nephritis", "Alport deafness-nephropathy", "Alport syndrome", "Alport's syndrome" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies." }, "child_count": 10, "reference_id": "MONDO:0018965" }, { "id": 18895, "label": "schisis association", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000246", "MEDGEN:444017", "MESH:C536633", "Orphanet:63862", "SCTID:718095000", "UMLS:C2931271" ], "synonyms": [ "Midline development field defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates." }, "child_count": 0, "reference_id": "MONDO:0018976" }, { "id": 18902, "label": "Tolosa-Hunt syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3785, 4370, 16052 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1278", "GARD:0007777", "MEDGEN:21197", "MESH:D020333", "MedDRA:10051526", "NCIT:C85193", "NORD:1774", "Orphanet:64686", "SCTID:95794005", "UMLS:C0040381", "icd11.foundation:969826782" ], "synonyms": [ "Tolosa Hunt Syndrome", "Tolosa Hunt syndrome", "Tolosa-Hunt syndrome", "painful ophthalmoplegia", "THS", "nonspecific inflammation of the cavernous sinus or superior orbital fissure" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others." }, "child_count": 0, "reference_id": "MONDO:0018983" }, { "id": 18905, "label": "iridocorneal endothelial syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000060", "MEDGEN:242751", "MESH:D057129", "MedDRA:10053678", "NCIT:C84792", "Orphanet:64734", "SCTID:129623003", "UMLS:C1096100", "icd11.foundation:265074385" ], "synonyms": [ "ICE syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" }, "child_count": 3, "reference_id": "MONDO:0018988" }, { "id": 18913, "label": "Noonan syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16088, 19154, 19780 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3490", "GARD:0010955", "ICD9:759.89", "MEDGEN:18073", "MESH:D009634", "MedDRA:10029748", "NANDO:1200680", "NANDO:2200413", "NCIT:C34854", "NORD:1513", "OMIMPS:163950", "Orphanet:648", "SCTID:205824006", "UMLS:C0028326", "icd11.foundation:1044395354" ], "synonyms": [ "Noonan syndrome", "Noonan's syndrome", "Noonan-Ehmke syndrome", "Ullrich-Noonan syndrome", "pseudo-Ullrich-Turner syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects." }, "child_count": 56, "reference_id": "MONDO:0018997" }, { "id": 18931, "label": "short fifth metacarpals-insulin resistance syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018868", "MEDGEN:929290", "Orphanet:66518", "UMLS:C4303621" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome is characterized by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0019017" }, { "id": 18949, "label": "progressive supranuclear palsy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7073, 19772, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:678", "GARD:0007471", "ICD10CM:G23.1", "ICD9:333.0", "MEDGEN:21026", "MESH:D013494", "MedDRA:10036813", "NANDO:1200009", "NCIT:C85028", "NORD:1619", "OMIMPS:601104", "Orphanet:683", "SCTID:192976002", "SCTID:28978003", "UMLS:C0038868", "icd11.foundation:1493396558" ], "synonyms": [ "PSP syndrome", "Steele-Richardson-Olszewski disease", "Steele-Richardson-Olszewski syndrome", "progressive supranuclear ophthalmoplegia", "familial progressive supranuclear palsy (type)", "supranuclear palsy, progressive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." }, "child_count": 16, "reference_id": "MONDO:0019037" }, { "id": 18989, "label": "benign exophthalmos syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:930337", "Orphanet:71269", "SCTID:719519007", "UMLS:C4304668", "icd11.foundation:1241377630" ], "synonyms": [ "bes" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Benign exophthalmos syndrome is characterized by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions." }, "child_count": 0, "reference_id": "MONDO:0019103" }, { "id": 18990, "label": "Sandifer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7073 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009684", "MEDGEN:90922", "MESH:C537234", "MedDRA:10066142", "NCIT:C113397", "Orphanet:71272", "SCTID:230314007", "UMLS:C0338465" ], "synonyms": [ "Sandifer's syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia." }, "child_count": 0, "reference_id": "MONDO:0019104" }, { "id": 19009, "label": "global developmental delay-osteopenia-ectodermal defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018919", "MEDGEN:929239", "Orphanet:73223", "SCTID:717813005", "UMLS:C4303570" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies." }, "child_count": 0, "reference_id": "MONDO:0019129" }, { "id": 19010, "label": "tubular renal disease-cardiomyopathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018920", "MEDGEN:930068", "Orphanet:73224", "UMLS:C4304399" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy." }, "child_count": 0, "reference_id": "MONDO:0019130" }, { "id": 19033, "label": "angioosteohypotrophic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7153 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018927", "MEDGEN:1641209", "Orphanet:75508", "SCTID:765750001", "UMLS:C4707561" ], "synonyms": [ "Phlebectatic osteohypoplastic angiodysplasia", "Servelle-Martorell syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported." }, "child_count": 0, "reference_id": "MONDO:0019156" }, { "id": 19040, "label": "6q terminal deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17324 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018931", "MEDGEN:930183", "Orphanet:75857", "SCTID:719666002", "UMLS:C4304514" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations." }, "child_count": 0, "reference_id": "MONDO:0019164" }, { "id": 19057, "label": "Axenfeld-Rieger syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 16089, 20691, 24305 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14686", "GARD:0005701", "ICD9:743.44", "MEDGEN:501192", "MESH:C535679", "MedDRA:10059255", "NCIT:C131001", "NORD:1670", "OMIMPS:180500", "Orphanet:782", "SCTID:47507006", "UMLS:C3495488" ], "synonyms": [ "ARS", "Axenfeld syndrome", "Axenfeldt-Rieger syndrome", "Rieger syndrome", "goniodysgenesis hypodontia", "iridogoniodysgenesis with somatic anomalies" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." }, "child_count": 15, "reference_id": "MONDO:0019187" }, { "id": 19098, "label": "peroxisome biogenesis disorder", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611, 18952, 18955, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080377", "GARD:0011890", "MEDGEN:330407", "MESH:C531857", "MESH:C536664", "NANDO:1200759", "NANDO:2200575", "NCIT:C146639", "NCIT:C155747", "OMIMPS:214100", "Orphanet:79189", "SCTID:742876007", "UMLS:C1832200", "icd11.foundation:1919322367" ], "synonyms": [ "PBD, ZSS", "PBD-ZSD", "peroxisomal biogenesis disorders", "peroxisomal biogenesis disorders, Zellweger syndrome spectrum", "peroxisome biogenesis disorder", "peroxisome biogenesis disorder spectrum", "peroxisome biogenesis disorder-Zellweger syndrome spectrum", "peroxisome biogenesis disorders, Zellweger syndrome spectrum", "cerebrohepatorenal syndrome", "PBD-ZSS", "PBD-Zellweger spectrum disorder", "ZSD", "Zellweger spectrum", "Zellweger spectrum disorder", "Zellweger spectrum disorders", "Zellweger syndrome spectrum", "disorders of peroxisome biogenesis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD)." }, "child_count": 10, "reference_id": "MONDO:0019234" }, { "id": 19138, "label": "ectodermal dysplasia syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 20277, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2121", "GARD:0006317", "ICD9:757.31", "MEDGEN:8544", "MESH:D004476", "MedDRA:10010452", "NCIT:C84683", "OMIMPS:305100", "Orphanet:79373", "SCTID:8654005", "UMLS:C0013575", "icd11.foundation:1156567558" ], "synonyms": [ "ectodermal dysplasia", "ectodermal dysplasia (select examples)" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." }, "child_count": 360, "reference_id": "MONDO:0019287" }, { "id": 19181, "label": "Seckel syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050569", "GARD:0008562", "ICD9:759.89", "MEDGEN:78534", "NCIT:C125488", "NORD:1701", "OMIMPS:210600", "Orphanet:808", "SCTID:57917004", "UMLS:C0265202", "icd11.foundation:952199295" ], "synonyms": [ "SCKL", "Seckel-type Dwarfism", "bird-headed dwarfism", "nanocephalic Dwarfism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance." }, "child_count": 24, "reference_id": "MONDO:0019342" }, { "id": 19186, "label": "Sotos syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 17323, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:17", "DOID:0112103", "DOID:14748", "GARD:0010091", "MEDGEN:61232", "MESH:D058495", "MedDRA:10064387", "NANDO:1200679", "NANDO:2200953", "NCIT:C75019", "NORD:1727", "OMIM:117550", "OMIMPS:117550", "Orphanet:821", "SCTID:75968004", "UMLS:C0175695", "icd11.foundation:1887392960" ], "synonyms": [ "NSD1 Sotos syndrome", "Sotos syndrome", "Sotos syndrome 1", "Sotos syndrome caused by mutation in NSD1", "Sotos syndrome type 1", "Sotos' syndrome", "cerebral gigantism", "cerebral gigantism syndrome", "chromosome 5q35 deletion syndrome", "SOTOS1", "distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0019349" }, { "id": 19190, "label": "Stickler syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 17206, 19768 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080046", "GARD:0010782", "ICD9:759.89", "MEDGEN:120521", "MedDRA:10063402", "NCIT:C74984", "NORD:1739", "OMIMPS:108300", "Orphanet:828", "SCTID:78675000", "UMLS:C0265253", "icd11.foundation:246271691" ], "synonyms": [ "Stickler syndrome", "hereditary progressive arthroophthalmopathy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases)." }, "child_count": 15, "reference_id": "MONDO:0019354" }, { "id": 19219, "label": "pelvis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 21330 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019045", "MEDGEN:1374037", "Orphanet:83628", "SCTID:725138002", "UMLS:C4510867", "icd11.foundation:1311821224" ], "synonyms": [ "LUMBAR syndrome", "Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome", "SACRAL syndrome", "perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome", "urorectal septum malformation sequence" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported." }, "child_count": 0, "reference_id": "MONDO:0019388" }, { "id": 19220, "label": "Susac syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 8586 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1001856", "GARD:0007713", "ICD9:348.39", "MEDGEN:439270", "MESH:D055955", "MedDRA:10071573", "NCIT:C116363", "NORD:1747", "Orphanet:838", "SCTID:702575003", "UMLS:C2717757", "icd11.foundation:1292480458" ], "synonyms": [ "RED-M", "Retinocochleocerebral vasculopathy", "SICRET syndrome", "retinopathy-encephalopathy-deafness associated with microangiopathy", "small infarctions of cochlear, retinal and encephalic tissue", "SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear." }, "child_count": 0, "reference_id": "MONDO:0019390" }, { "id": 19241, "label": "ischio-vertebral syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019052", "MEDGEN:903166", "Orphanet:85200", "SCTID:715654001", "UMLS:C4274732", "icd11.foundation:185911418" ], "synonyms": [ "ischio-spinal dysostosis", "ischio-vertebral dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0019413" }, { "id": 19242, "label": "BRESEK syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016746", "MEDGEN:502868", "MESH:C564519", "Orphanet:85284", "SCTID:717945001", "UMLS:C3502469" ], "synonyms": [ "BRESHECK syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome)." }, "child_count": 0, "reference_id": "MONDO:0019414" }, { "id": 19317, "label": "Turner syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4130, 4370, 18156, 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3491", "GARD:0007831", "ICD10CM:Q96.0", "ICD10WHO:Q96", "ICD9:758.7", "MEDGEN:21734", "MESH:D014424", "MedDRA:10045181", "NANDO:2200410", "NCIT:C26900", "NORD:1806", "Orphanet:881", "SCTID:38804009", "UMLS:C0041408", "icd11.foundation:1987089698" ], "synonyms": [ "gonadal dysgenesis", "45,X gonadal dysgenesis", "45,X syndrome", "45,X/46,XX syndrome", "45,X0 syndrome", "45X syndrome", "karyotype 45, X", "monosomy X", "45, X syndrome", "Bonnevie-Ullrich syndrome", "Schereshevkii Turner syndrome", "Turner Varny syndrome", "Ullrich-Turner syndrome", "chromosome X monosomy X", "genital dwarfism", "genital dwarfism, Turner type", "gonadal dysgenesis (45,X)", "gonadal dysgenesis Turner type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome." }, "child_count": 12, "reference_id": "MONDO:0019499" }, { "id": 19319, "label": "Usher syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050439", "GARD:0007843", "MESH:D052245", "MedDRA:10063396", "NANDO:1200941", "NCIT:C85217", "NORD:1816", "OMIMPS:276900", "Orphanet:886", "icd11.foundation:1452641873" ], "synonyms": [ "USH", "Usher's syndrome", "ush", "deafness-retinitis pigmentosa syndrome", "retinitis pigmentosa-deafness syndrome", "Graefe-Usher syndrome", "Hallgren syndrome", "dystrophia retinae pigmentosa-dysostosis syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." }, "child_count": 10, "reference_id": "MONDO:0019501" }, { "id": 19323, "label": "obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019092", "MEDGEN:928548", "Orphanet:88643", "SCTID:722051004", "UMLS:C4302879" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established." }, "child_count": 0, "reference_id": "MONDO:0019506" }, { "id": 19370, "label": "CREST syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16892 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060218", "GARD:0025139", "MEDGEN:60083", "MESH:D017675", "MedDRA:10011380", "NANDO:1201011", "NCIT:C70646", "Orphanet:90290", "SCTID:31848007", "UMLS:C0206138" ], "synonyms": [ "lcSSc", "calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome", "limited cutaneous Systemic Scleroderma", "limited cutaneous Systemic sclerosis", "CRST syndrome", "CRST syndromes", "calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia", "calcinosis Raynaud phenomenon sclerodactyly telangiectasia", "calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome", "calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia", "phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud", "syndrome, CREST" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia." }, "child_count": 0, "reference_id": "MONDO:0019563" }, { "id": 19409, "label": "Sheehan syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9476", "GARD:0007630", "MEDGEN:116569", "MedDRA:10036297", "NCIT:C35300", "Orphanet:91355", "SCTID:290653008", "UMLS:C0242342", "icd11.foundation:421687193" ], "synonyms": [ "Sheehan's syndrome", "postpartum hypopituitarism", "postpartum panhypopituitarism", "postpartum panhypopituitary syndrome", "postpartum pituitary necrosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset." }, "child_count": 0, "reference_id": "MONDO:0019618" }, { "id": 19493, "label": "polymyalgia rheumatica", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7203 ], "type_id": 0, "properties": { "xrefs": [ "DOID:853", "EFO:0008518", "GARD:0004704", "ICD10CM:M35.3", "ICD9:725", "MEDGEN:19393", "MESH:D011111", "MedDRA:10068240", "NCIT:C85018", "NORD:1593", "Orphanet:93569", "SCTID:65323003", "UMLS:C0032533", "icd11.foundation:103940897" ], "synonyms": [ "polymyalgia rheumatica", "rhizomelic pseudopolyarthritis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression." }, "child_count": 0, "reference_id": "MONDO:0019735" }, { "id": 19503, "label": "autoinflammatory syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7203 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0051000", "ICD10CM:M04-M04", "MEDGEN:855741", "MedDRA:10072220", "NANDO:2100156", "NCIT:C119050", "Orphanet:93665", "UMLS:C3890737" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease." }, "child_count": 74, "reference_id": "MONDO:0019751" }, { "id": 19533, "label": "neuroleptic malignant syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14464", "EFO:1001379", "GARD:0007195", "ICD10CM:G21.0", "ICD9:333.92", "MEDGEN:10320", "MESH:D009459", "MedDRA:10029282", "NCIT:C94829", "NORD:1504", "Orphanet:94093", "SCTID:15244003", "UMLS:C0027849", "icd11.foundation:498240876" ], "synonyms": [ "NMS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness." }, "child_count": 0, "reference_id": "MONDO:0019790" }, { "id": 19564, "label": "pituitary stalk interruption syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19562 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013209", "MEDGEN:883774", "NCIT:C121150", "Orphanet:95496", "SCTID:715727009", "UMLS:C4053775", "icd11.foundation:1474283222" ], "synonyms": [ "PSIS", "ectopic neurohypophysis", "hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." }, "child_count": 0, "reference_id": "MONDO:0019828" }, { "id": 19622, "label": "monosomy 13q34", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17330 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016847", "MEDGEN:1631901", "Orphanet:96168", "SCTID:766716004", "UMLS:C4707797" ], "synonyms": [ "Del(13)(q34)", "distal deletion 13q34", "monosomy type 13q34", "subtelomeric deletion 13q34" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum." }, "child_count": 0, "reference_id": "MONDO:0019902" }, { "id": 19627, "label": "ring chromosome 13", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24418, 24487 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006069", "MEDGEN:444146", "MESH:C538303", "Orphanet:96176", "SCTID:726723004", "UMLS:C2931808" ], "synonyms": [ "Ring chromosome type 13", "R13", "Ring 13", "Ring chromosome 13 syndrome", "chromosome 13 ring" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia." }, "child_count": 0, "reference_id": "MONDO:0019907" }, { "id": 19648, "label": "48,XXXY syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18156, 21951, 24425 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005676", "ICD9:758.81", "MEDGEN:452344", "MedDRA:10048228", "NCIT:C89799", "Orphanet:96263", "SCTID:78317008", "UMLS:C0265498" ], "synonyms": [ "48, XXXY syndrome", "XXXY syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." }, "child_count": 0, "reference_id": "MONDO:0019928" }, { "id": 19649, "label": "49,XXXXY syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18156, 24425, 24481 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005679", "ICD9:758.81", "MEDGEN:75573", "NCIT:C185635", "Orphanet:96264", "SCTID:38847009", "UMLS:C0265499" ], "synonyms": [ "49,XXXXY", "XXXXY syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." }, "child_count": 0, "reference_id": "MONDO:0019929" }, { "id": 19661, "label": "hereditary continuous muscle fiber activity", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001512", "MEDGEN:331775", "Orphanet:972", "UMLS:C1834559" ], "synonyms": [ "continuous muscle fiber activity hereditary", "continuous muscle fiber activity, hereditary", "continuous muscle fibre activity hereditary", "continuous muscle fibre activity, hereditary" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia." }, "child_count": 0, "reference_id": "MONDO:0019943" }, { "id": 19662, "label": "Eisenmenger syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16614 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009200", "GARD:0006323", "ICD10CM:I27.83", "MEDGEN:4479", "MESH:D004541", "MedDRA:10058554", "NCIT:C84390", "NORD:1081", "Orphanet:97214", "SCTID:445928005", "UMLS:C0013743", "icd11.foundation:581886860" ], "synonyms": [ "Eisenmenger's syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH." }, "child_count": 0, "reference_id": "MONDO:0019944" }, { "id": 19689, "label": "Robinow syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16088, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060254", "GARD:0000312", "MEDGEN:78535", "NCIT:C85048", "NORD:1673", "OMIMPS:268310", "Orphanet:97360", "UMLS:C0265205", "icd11.foundation:1010745722" ], "synonyms": [ "Robinow dwarfism", "Robinow-Silverman-Smith syndrome", "acral dysostosis with facial and genital abnormalities", "fetal face syndrome", "foetal face syndrome", "mesomelic dwarfism-small genitalia syndrome", "Covesdem syndrome (formerly)", "costovertebral segmentation defect with mesomelia (formerly)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." }, "child_count": 9, "reference_id": "MONDO:0019978" }, { "id": 19720, "label": "Ehlers-Danlos syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 19507 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13359", "GARD:0006322", "ICD10CM:Q79.6", "ICD9:756.83", "MEDGEN:41720", "MESH:D004535", "MedDRA:10014316", "NANDO:1200645", "NANDO:2200607", "NCIT:C34568", "NORD:1080", "OMIMPS:130000", "Orphanet:98249", "SCTID:398114001", "UMLS:C0013720", "icd11.foundation:1122707206" ], "synonyms": [ "Danlos Disease, Ehlers", "Danlos disease", "Disease, Ehlers Danlos", "Disease, Ehlers-Danlos", "Dystrophia mesodermalis congenita", "EDS", "Ehler Danlos Syndrome", "Ehlers Danlos Disease", "Ehlers Danlos Syndrome", "Ehlers Danlos syndrome", "Ehlers-Danlos Disease", "Ehlers-Danlos syndromes", "Fibrodysplasia elastica generalisata", "Hereditary collagen dysplasia", "Meekeren-Ehlers-Danlos syndrome", "Syndrome, Ehlers-Danlos", "danlos ehlers syndrome", "elastic skin", "skin elastic", "ED syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility." }, "child_count": 75, "reference_id": "MONDO:0020066" }, { "id": 19776, "label": "hypoplastic right heart syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19559 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070315", "GARD:0002922", "ICD10CM:Q22.6", "ICD9:746.89", "MEDGEN:83376", "MedDRA:10050053", "MedDRA:10064962", "NCIT:C99053", "Orphanet:98723", "SCTID:268180007", "UMLS:C0344963" ], "synonyms": [ "right hypoplastic heart syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia." }, "child_count": 4, "reference_id": "MONDO:0020291" }, { "id": 19863, "label": "shone complex", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19556 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019630", "ICD9:746.84", "MEDGEN:501135", "MedDRA:10066802", "NCIT:C99058", "Orphanet:99063", "SCTID:41371000119100", "UMLS:C1868705", "icd11.foundation:295410302" ], "synonyms": [ "shone syndrome", "shone's syndrome (greater than 3 sites)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis." }, "child_count": 0, "reference_id": "MONDO:0020404" }, { "id": 19928, "label": "48,XYYY syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21951, 24426 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0011985", "MEDGEN:1371767", "Orphanet:99329", "SCTID:733625003", "UMLS:C4518082" ], "synonyms": [ "48,XYYY" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males." }, "child_count": 0, "reference_id": "MONDO:0020469" }, { "id": 19945, "label": "subcortical band heterotopia", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4427 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111169", "GARD:0001904", "MEDGEN:336288", "NANDO:1201070", "NCIT:C116933", "Orphanet:99796", "UMLS:C1848201", "icd11.foundation:525786944" ], "synonyms": [ "double cortex syndrome", "subcortical laminar heterotopia", "Double cortex", "familial band heterotopia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A developmental brain abnormality characterized by atypical migration of neurons during cortical development." }, "child_count": 4, "reference_id": "MONDO:0020491" }, { "id": 20010, "label": "complex regional pain syndrome type 2", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19203 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3222", "EFO:1000854", "GARD:0019727", "MEDGEN:2918", "MESH:D002422", "MedDRA:10007825", "MedDRA:10064335", "NCIT:C121572", "Orphanet:99994", "SCTID:408751001", "UMLS:C0007462" ], "synonyms": [ "CRPS II", "Complex regional pain syndrome II", "causalgia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area." }, "child_count": 0, "reference_id": "MONDO:0020572" }, { "id": 20261, "label": "faciodigitogenital syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111824", "GARD:0004775", "MedDRA:10067148", "Orphanet:915" ], "synonyms": [ "Aarskog syndrome", "Aarskog-Scott syndrome", "faciogenital dysplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome." }, "child_count": 3, "reference_id": "MONDO:0021005" }, { "id": 20301, "label": "neoplastic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 21214 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:362147", "NCIT:C54705", "UMLS:C1882062" ], "synonyms": [ "cancer-related syndrome", "neoplastic syndrome", "tumor syndrome", "tumour syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired." }, "child_count": 22, "reference_id": "MONDO:0021058" }, { "id": 20314, "label": "paraneoplastic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 23540 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:45320", "MESH:D010257", "NCIT:C3311", "SCTID:49783001", "UMLS:C0030472" ], "synonyms": [ "paraneoplastic syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm." }, "child_count": 16, "reference_id": "MONDO:0021073" }, { "id": 20719, "label": "post-infectious syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 20718 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 6, "reference_id": "MONDO:0021670" }, { "id": 20744, "label": "Achard-Thiers syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:124410", "MESH:C536013", "SCTID:34041001", "UMLS:C0271732" ], "synonyms": [ "Achard Thiers syndrome", "diabetes in bearded women", "diabetic-bearded woman syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women" }, "child_count": 0, "reference_id": "MONDO:0021752" }, { "id": 20747, "label": "acral dysostosis dyserythropoiesis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet." }, "child_count": 0, "reference_id": "MONDO:0021761" }, { "id": 20761, "label": "agnathia-microstomia-synotia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419145", "MESH:C538059", "UMLS:C2931718" ], "synonyms": [ "Plurimalformative syndrome", "agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0021829" }, { "id": 20763, "label": "Aksu von Stockhausen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419676", "MESH:C535611", "UMLS:C2930949" ], "synonyms": [ "aksu von stockhausen syndrome", "hereditary branchial arch defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder." }, "child_count": 0, "reference_id": "MONDO:0021836" }, { "id": 20766, "label": "Aloi Tomasini Isaia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 10068 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000417", "MEDGEN:419073", "MESH:C537049", "UMLS:C2931405" ], "synonyms": [ "basal cell nevus anodontia abnormal bone mineralization", "basal cell nevus, anodontia, abnormal bone mineralization", "unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0006858", "name": "mouth disorder" } ], "definition": "A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder." }, "child_count": 0, "reference_id": "MONDO:0021845" }, { "id": 20770, "label": "temporomandibular joint dysfunction syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7131, 8304 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:21093", "MESH:D013706", "NCIT:C35066", "UMLS:C0039496" ], "synonyms": [ "temporomandibular joint dysfunction syndrome", "Costen Syndrome", "Costen's Syndrome", "Costen's complex", "Costen's syndrome", "Costens Syndrome", "Joint Syndrome, Temporomandibular", "Mandibular dysfunction", "Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint", "Myofascial pain - dysfunction syndrome of TMJ", "Snapping jaw", "Syndrome, Costen's", "Syndrome, TMJ", "Syndrome, Temporomandibular Joint", "TMJ Syndrome", "TMJ syndrome", "TMJPDS - Temporomandibular joint pain dysfunction syndrome", "Temporomandibular Joint Dysfunction Syndrome", "Temporomandibular Joint Syndrome", "Temporomandibular joint pain dysfunction syndrome", "Temporomandibular joint syndrome", "Temporomandibular joint-pain-dysfunction syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disk and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management." }, "child_count": 0, "reference_id": "MONDO:0021895" }, { "id": 20773, "label": "Apert-like polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Apert like polydactyly syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0021905" }, { "id": 20777, "label": "arakawa syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6510 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008265", "MEDGEN:75697", "MESH:C537426", "NANDO:2201111", "NCIT:C99081", "SCTID:89579000", "UMLS:C0268611" ], "synonyms": [ "Arakawa syndrome II", "Arakawa's syndrome 2", "Arakawa's syndrome II", "homocystinuria-megaloblastic Anemia, cblG complementation type", "methionine synthase deficiency", "methylcobalamin deficiency, cblG type", "tetrahydrofolate methyltransferase deficiency", "N5-methylhomocysteine transferase deficiency", "tetrahydrofolate-methyltransferase deficiency syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly." }, "child_count": 0, "reference_id": "MONDO:0021915" }, { "id": 20778, "label": "arena syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:444068", "MESH:C537428", "UMLS:C2931491" ], "synonyms": [ "spastic paraplegia with iron deposits in basal ganglia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0021918" }, { "id": 20779, "label": "Arnold stickler bourne syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3211, 4370, 6139, 6948 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000366", "MEDGEN:419426", "MESH:C537431", "UMLS:C2931492" ], "synonyms": [ "corneal crystals myopathy and nephropathy", "corneal crystals myopathy and neuropathy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0021921" }, { "id": 20795, "label": "baetz-greenwalt syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:444099", "MESH:C537795", "UMLS:C2931615" ], "synonyms": [ "hypoplastic right-sided heart complex" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0021962" }, { "id": 20796, "label": "bagatelle Cassidy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6982, 17092 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000398", "MEDGEN:444100", "MESH:C537796", "UMLS:C2931616" ], "synonyms": [ "macrocephaly short limbs deafness", "macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0021964" }, { "id": 20797, "label": "baker Vinters syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3395, 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419861", "MESH:C537899", "UMLS:C2931659" ], "synonyms": [ "hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder." }, "child_count": 0, "reference_id": "MONDO:0021966" }, { "id": 20802, "label": "bobble-head doll syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:443985", "MESH:C536241", "UMLS:C2931137" ], "synonyms": [ "BHDS", "bobble head doll syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain." }, "child_count": 0, "reference_id": "MONDO:0022011" }, { "id": 20803, "label": "Boerhaave syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:65948", "MESH:C536571", "SCTID:19995004", "UMLS:C0238115" ], "synonyms": [ "Boerhaave syndrome", "spontaneous rupture of esophagus", "spontaneous rupture of oesophagus", "Boerhaave's syndrome", "Boerhave syndrome", "boerhaave's syndrome", "spontaneous esophageal perforation", "spontaneous perforation of esophagus", "spontaneous perforation of oesophagus", "spontaneous perforation of the esophagus", "spontaneous perforation of the oesophagus", "spontaneous rupture of the esophagus", "spontaneous rupture of the oesophagus" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part." }, "child_count": 0, "reference_id": "MONDO:0022013" }, { "id": 20812, "label": "Cantu Sanchez-Corona Fragoso syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419290", "MESH:C535571", "UMLS:C2930937" ], "synonyms": [ "severe mental deficiency proportionate dwarfism and delayed sexual maturation", "severe mental deficiency, proportionate dwarfism, and delayed sexual maturation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022067" }, { "id": 20813, "label": "Cantu Sanchez-Corona Hernandez syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies" }, "child_count": 0, "reference_id": "MONDO:0022070" }, { "id": 20814, "label": "carbon baby syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:98349", "SCTID:238700008", "UMLS:C0406419" ], "synonyms": [ "universal acquired melanosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown." }, "child_count": 0, "reference_id": "MONDO:0022071" }, { "id": 20815, "label": "Carnevale hernandez castillo syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419672", "MESH:C535585", "UMLS:C2930940" ], "synonyms": [ "Triphalyngeal thumbs and brachyectrodactyly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022089" }, { "id": 20816, "label": "Cartwright Nelson Fryns syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:443968", "MESH:C535917", "UMLS:C2931062" ], "synonyms": [ "Growth retardation, severe intellectual disability, acral limb deficiencies with poorly keratinized nails", "Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022094" }, { "id": 20821, "label": "Charles bonnet syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:137926", "MESH:D000075562", "SCTID:193756007", "UMLS:C0339731" ], "synonyms": [ "charles bonnet syndrome", "CBS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized." }, "child_count": 0, "reference_id": "MONDO:0022140" }, { "id": 20832, "label": "Parinaud syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:57754", "NCIT:C54102", "SCTID:37991008", "UMLS:C0152222" ], "synonyms": [ "Parinaud syndrome", "Parinaud's syndrome", "Parinauds syndrome", "syndrome, Parinaud", "syndrome, Parinaud's", "Parinaud's ophthalmoplegia", "dorsal midbrain syndrome", "paralysis of vertical movement", "vertical gaze palsy - Parinaud" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause." }, "child_count": 0, "reference_id": "MONDO:0022220" }, { "id": 20835, "label": "corticobasal degeneration disorder", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21293 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000046", "ICD10CM:G31.85", "MEDGEN:95979", "NANDO:1200011", "NCIT:C129069", "SCTID:18842008", "UMLS:C0393570" ], "synonyms": [ "cortical basal ganglionic degeneration", "corticobasal degeneration", "CBGD", "cortical-basal ganglionic degeneration", "cortico-basal ganglionic Degeneration (CBGD)", "corticobasal syndrome", "corticodentatonigral degeneration with neuronal achromasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment." }, "child_count": 0, "reference_id": "MONDO:0022308" }, { "id": 20837, "label": "hair defect with photosensitivity and intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:383868", "MESH:C537628", "OMIM:234030", "Orphanet:1408", "SCTID:721007005", "UMLS:C1856241" ], "synonyms": [ "Calderon Gonzalez-Cantu syndrome", "Calderón-González-Cantu syndrome", "hair defect with photosensitivity and intellectual disability syndrome", "hair defect-photosensitivity-intellectual disability syndrome", "hair defect with photosensitivity and intellectual disability", "hair defect with photosensitivity and mental retardation", "kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability", "kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents." }, "child_count": 0, "reference_id": "MONDO:0022316" }, { "id": 20842, "label": "AIDS dysmorphic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1843488", "UMLS:C5243926" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022337" }, { "id": 20845, "label": "congenital acardia", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19327 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009823", "ICD9:759.89", "MEDGEN:91032", "SCTID:205834002", "UMLS:C0344580" ], "synonyms": [ "acardia", "congenital absence of the heart" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0022357" }, { "id": 20846, "label": "acute lymphoblastic leukemia congenital sporadic aniridia", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20092 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia." }, "child_count": 0, "reference_id": "MONDO:0022380" }, { "id": 20848, "label": "aglossia and situs inversus", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs." }, "child_count": 0, "reference_id": "MONDO:0022398" }, { "id": 20849, "label": "agyria pachygyria polymicrogyria", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect." }, "child_count": 0, "reference_id": "MONDO:0022401" }, { "id": 20850, "label": "agyria-pachygyria type 1", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "NANDO:1201068", "NANDO:1201069" ], "synonyms": [ "Bielchowsky type of lissencephaly", "type I lissencephaly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei." }, "child_count": 0, "reference_id": "MONDO:0022402" }, { "id": 20851, "label": "Ahumada Del Castillo syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Argonz Ahumada Del Castillo syndrome", "Argonz Del Castillo syndrome", "amenorrhea galactorrhea FSH decrease syndrome", "galactorrhea amenorrhea without pregnancy", "nonpuerperal galactorrhe amenorrhea" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins." }, "child_count": 0, "reference_id": "MONDO:0022403" }, { "id": 20853, "label": "alopecia congenita keratosis palmoplantaris", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19132 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025361", "MEDGEN:354901", "MESH:C537050", "UMLS:C1863093" ], "synonyms": [ "alopecia congenita with hyperkeratosis of the palms and soles", "alopecia congenita with keratosis palmoplantaris" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022417" }, { "id": 20854, "label": "alpha-mannosidosis type 1", "isLeaf": true, "isRoot": false, "parents": [ 4370, 10782 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025362", "MEDGEN:419756", "MESH:C536584", "NANDO:1200127", "NANDO:2201188", "SCTID:62311004", "UMLS:C2931251" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0022424" }, { "id": 20855, "label": "aluminosis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:J63.0", "MEDGEN:452403", "SCTID:90623003", "UMLS:C0311227" ], "synonyms": [ "aluminosis of lung", "pulmonary aluminosis", "aluminium lung", "aluminum lung" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax." }, "child_count": 0, "reference_id": "MONDO:0022428" }, { "id": 20858, "label": "Mauriac syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GTR:AN0543843", "GTR:AN0543890", "ICD9:258.1", "MEDGEN:526123", "NCIT:C130997", "SCTID:80660001", "UMLS:C0221005" ], "synonyms": [ "Mauriac syndrome", "Mauriac's syndrome", "dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features." }, "child_count": 0, "reference_id": "MONDO:0022435" }, { "id": 20862, "label": "ankle defects short stature", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022456" }, { "id": 20863, "label": "ankyloblepharon filiforme imperforate anus", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022457" }, { "id": 20864, "label": "annular constricting bands", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand." }, "child_count": 0, "reference_id": "MONDO:0022458" }, { "id": 20865, "label": "anophthalmia cleft palate micrognathia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes." }, "child_count": 0, "reference_id": "MONDO:0022461" }, { "id": 20866, "label": "anophthalmia esophageal atresia cryptorchidism", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder." }, "child_count": 0, "reference_id": "MONDO:0022462" }, { "id": 20867, "label": "anotia facial palsy cardiac defect", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot." }, "child_count": 0, "reference_id": "MONDO:0022465" }, { "id": 20869, "label": "aortic dissection lentiginosis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis." }, "child_count": 0, "reference_id": "MONDO:0022470" }, { "id": 20870, "label": "childhood aortic valve stenosis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 23105 ], "type_id": 0, "properties": { "synonyms": [ "aortic valves stenosis of the child" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022471" }, { "id": 20872, "label": "arthrogryposis IUGR thoracic dystrophy", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Van Bervliet syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia." }, "child_count": 0, "reference_id": "MONDO:0022496" }, { "id": 20873, "label": "arthrogryposis multiplex congenita CNS calcification", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle." }, "child_count": 0, "reference_id": "MONDO:0022500" }, { "id": 20874, "label": "arthrogryposis spinal muscular atrophy", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022504" }, { "id": 20875, "label": "asternia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:869485", "UMLS:C4023912" ], "synonyms": [ "absent sternum" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs." }, "child_count": 0, "reference_id": "MONDO:0022509" }, { "id": 20876, "label": "atlanto-axial fusion", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MESH:C538196" ], "synonyms": [ "atlantoaxial fusion", "atlantoaxial joint fusion" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022510" }, { "id": 20877, "label": "atrophoderma of Pierini and Pasini", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20387 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005866", "ICD10CM:L90.3", "MEDGEN:854615", "Orphanet:658810", "SCTID:711524008", "UMLS:C3887897" ], "synonyms": [ "congenital atrophoderma of Pasini and Pierini", "idiopathic atrophoderma of Pasini and Pierini" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases." }, "child_count": 0, "reference_id": "MONDO:0022513" }, { "id": 20883, "label": "Barnicoat Baraitser syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Barnicoat-Baraitser syndrome", "polysyndactyly overgrowth syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022545" }, { "id": 20884, "label": "Basedow's coma", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Coma basedovicum", "Karl Adolph von Basedow" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor." }, "child_count": 0, "reference_id": "MONDO:0022551" }, { "id": 20886, "label": "BD syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022553" }, { "id": 20887, "label": "Beardwell syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419446", "MESH:C537665", "UMLS:C2931581" ], "synonyms": [ "familial ankylosing vertebral hyperostosis with tylosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022555" }, { "id": 20891, "label": "bhaskar jagannathan syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6853 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419280", "MESH:C535437", "UMLS:C2930901" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0022567" }, { "id": 20892, "label": "bidirectional tachycardia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:418944", "MESH:C535438", "UMLS:C2930902" ], "synonyms": [ "bidirectional ventricular tachycardia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022568" }, { "id": 20896, "label": "bilirubin induced brain injury in the newborn", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022576" }, { "id": 20898, "label": "blepharo naso facial syndrome van Maldergem type", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing." }, "child_count": 0, "reference_id": "MONDO:0022580" }, { "id": 20900, "label": "bone dysplasia corpus callosum agenesis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022587" }, { "id": 20901, "label": "brachydactyly absence of distal phalanges", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022598" }, { "id": 20902, "label": "brachydactyly anonychia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022599" }, { "id": 20903, "label": "brachydactyly small stature face anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022602" }, { "id": 20904, "label": "brachydactyly tibial hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022603" }, { "id": 20907, "label": "brittle bone syndrome lethal type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 12485 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022608" }, { "id": 20909, "label": "bronchiectasis oligospermia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022610" }, { "id": 20911, "label": "Brunsting-Perry syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:725587", "UMLS:C1304226" ], "synonyms": [ "Brunsting Perry syndrome", "cicatricial pemphigoid of the Brunsting-Perry type", "localised cicatricial pemphigoid", "localized cicatricial pemphigoid" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022612" }, { "id": 20912, "label": "bruyn scheltens syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022613" }, { "id": 20913, "label": "burn goodship syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022615" }, { "id": 20917, "label": "camptodactyly joint contractures and facial skeletal dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419868", "MESH:C537969", "UMLS:C2931678" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022633" }, { "id": 20918, "label": "camptodactyly vertebral fusion", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:444116", "MESH:C537973", "UMLS:C2931682" ], "synonyms": [ "camptodactyly and sacral vertebral fusion", "camptodactyly and sacral vertebral fusion (subtype)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022634" }, { "id": 20920, "label": "Cantu Sanchez-Corona Garcia-Cruz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022639" }, { "id": 20923, "label": "cardiac hydatid cysts with intracavitary expansion", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Cardiac hydatidosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022644" }, { "id": 20924, "label": "cardioencephalomyopathy", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022645" }, { "id": 20925, "label": "cardiofacial syndrome short limbs", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022646" }, { "id": 20926, "label": "cardiomelic syndrome stratton Koehler type", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022647" }, { "id": 20927, "label": "cardiomyopathy and deafness due to tRNA lysine gene mutation", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GTR:AN0103738", "GTR:AN0103739", "HGNC:7489" ], "synonyms": [ "cardiomyopathy and deafness due to tRNA lysine gene mutation", "cardiomyopathy and deafness due to MTTK gene mutation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms." }, "child_count": 0, "reference_id": "MONDO:0022648" }, { "id": 20928, "label": "cardiomyopathy diabetes deafness", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022650" }, { "id": 20930, "label": "cardiomyopathy hypogonadism collagenoma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:354607", "MESH:C535582", "UMLS:C1861860" ], "synonyms": [ "cardiomyopathy-hypogonadism-collagenoma syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022654" }, { "id": 20931, "label": "cardiomyopathy hypogonadism metabolic anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18954 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022655" }, { "id": 20932, "label": "cardiomyopathy spherocytosis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022656" }, { "id": 20933, "label": "carpo tarsal osteolysis recessive", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022662" }, { "id": 20935, "label": "autosomal dominant cataract", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 6853 ], "type_id": 0, "properties": { "synonyms": [ "cataract congenital autosomal dominant" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A syndromic cataract that has autosomal dominant inheritance." }, "child_count": 3, "reference_id": "MONDO:0022672" }, { "id": 20937, "label": "cataract skeletal anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022675" }, { "id": 20938, "label": "cennamo gangemi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "hydrocephalus cataract microphthalmos" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022682" }, { "id": 20939, "label": "cerebellar agenesis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:868414", "UMLS:C4022808" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022685" }, { "id": 20941, "label": "cerebello-olivary atrophy", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Cerebelloolivary atrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022691" }, { "id": 20942, "label": "cerebral calcification cerebellar hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022693" }, { "id": 20943, "label": "cerebral calcifications opalescent teeth phosphaturia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022694" }, { "id": 20947, "label": "oculo digital syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419324", "MESH:C535922", "UMLS:C2931063" ], "synonyms": [ "Chemke Oliver Mallek syndrome", "Chemke-Oliver-Mallek syndrome", "multiple ophthalmic anomalies and digital hypoplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022712" }, { "id": 20951, "label": "chondrodysplasia", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:91012", "SCTID:205465004", "UMLS:C0343284" ], "synonyms": [ "chondrodysplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 3, "reference_id": "MONDO:0022723" }, { "id": 20953, "label": "choreoacanthocytosis amyotrophic", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022733" }, { "id": 20954, "label": "chorioretinopathy dominant form microcephaly", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:502349", "UMLS:C3501946" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022734" }, { "id": 20958, "label": "Christian Demyer Franken syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022739" }, { "id": 20959, "label": "Christian Johnson angenieta syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022740" }, { "id": 20972, "label": "chromosome 3 duplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24408 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025367", "MEDGEN:419778", "MESH:C536803", "UMLS:C2931333" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022761" }, { "id": 20974, "label": "chronic demyelinizing neuropathy with IgM monoclonal", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022765" }, { "id": 20976, "label": "ciliary dyskinesia-bronchiectasis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022769" }, { "id": 20977, "label": "circumscribed cutaneous aplasia of the vertex", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022770" }, { "id": 20978, "label": "circumscribed disseminated keratosis Jadassohn lew type", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022771" }, { "id": 20980, "label": "cleft lip and palate malrotation cardiopathy", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022775" }, { "id": 20981, "label": "cleft lip and/or palate with mucous cysts of lower", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022776" }, { "id": 20982, "label": "cleft lip palate dysmorphism kumar type", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022777" }, { "id": 20983, "label": "cleft lip palate intellectual disability corneal opacity", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022778" }, { "id": 20984, "label": "cleft lip palate oligodontia syndactyly pili torti", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022779" }, { "id": 20985, "label": "cleft lip palate pituitary deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022780" }, { "id": 20986, "label": "cleft lip palate-tetraphocomelia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022781" }, { "id": 20987, "label": "cleft lower lip cleft lateral canthi chorioretinal", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022782" }, { "id": 20988, "label": "cleft palate cardiac defect ectrodactyly", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022785" }, { "id": 20989, "label": "cleft palate colobomata radial synostosis deafness", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022786" }, { "id": 20990, "label": "cleft palate heart disease polydactyly absent tibia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022787" }, { "id": 20991, "label": "cleft tongue", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:82731", "UMLS:C0266111" ], "synonyms": [ "bifid tongue", "cleft tongue syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022790" }, { "id": 20992, "label": "coarse face hypotonia constipation", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Sondheimer syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022791" }, { "id": 20995, "label": "Cohen Lockood Wyborney syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022798" }, { "id": 20997, "label": "type 2 collagenopathy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6394, 18360, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019186", "HGNC:2200", "MEDGEN:419326", "MESH:C535964", "NANDO:2201016", "Orphanet:93421", "UMLS:C2931073" ], "synonyms": [ "COL2A1 disease or disorder", 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}, { "id": 21012, "label": "congenital craniosynostosis maternal hyperthyroiditis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022824" }, { "id": 21013, "label": "congenital cystic eye", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010617", "MEDGEN:510582", "Orphanet:519384", "UMLS:C0158543", "icd11.foundation:2061090928" ], "synonyms": [ "CCE" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 1, "reference_id": "MONDO:0022825" }, { "id": 21015, "label": "congenital heart disease ptosis hypodontia craniostosis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022831" }, { "id": 21016, "label": "congenital heart disease radio ulnar synostosis intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022832" }, { "id": 21019, "label": "congenital mumps", "isLeaf": true, "isRoot": false, "parents": [ 3256, 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022843" }, { "id": 21021, "label": "congenital stenosis of cervical medullary canal", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022849" }, { "id": 21022, "label": "Dennis-Fairhurst-Moore syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000290", "MEDGEN:419158", "MESH:C538210", "Orphanet:2109", "UMLS:C2931775" ], "synonyms": [ "Dennis Fairhurst Moore syndrome", "Hallermam Streiff like syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder." }, "child_count": 0, "reference_id": "MONDO:0022851" }, { "id": 21023, "label": "congenital unilateral pulmonary hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022854" }, { "id": 21024, "label": "congenital vagal hyperreflexivity", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022855" }, { "id": 21026, "label": "Cormier Rustin Munnich syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022862" }, { "id": 21027, "label": "corneal crystals myopathy neuropathy", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022863" }, { "id": 21028, "label": "corneal dystrophy ichthyosis microcephaly intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022865" }, { "id": 21029, "label": "corneal dystrophy pigmentary anomaly malabsorption", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022866" }, { "id": 21030, "label": "corpus callosum agenesis of blepharophimosis robin type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7209 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022871" }, { "id": 21031, "label": "corpus callosum dysgenesis X-linked recessive", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7209 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022872" }, { "id": 21032, "label": "corpus callosum dysgenesis cleft spasm", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7209 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022873" }, { "id": 21033, "label": "corpus callosum dysgenesis 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"categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022883" }, { "id": 21037, "label": "craniofacial dysostosis arthrogryposis progeroid appearance", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Van Biervliet Hendrickx Van Ertbruggen syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022884" }, { "id": 21038, "label": "craniofrontonasal syndrome Teebi type", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022887" }, { "id": 21040, "label": "craniostenosis with congenital heart disease intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022889" }, { "id": 21050, "label": "crawfurd syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022899" }, { "id": 21054, "label": "cutis gyratum acanthosis nigricans craniosynostosis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022908" }, { "id": 21055, "label": "cutis laxa osteoporosis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022909" }, { "id": 21059, "label": "Davenport-Donlan syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:443971", "MESH:C535988", "Orphanet:3215", "UMLS:C2931076" ], "synonyms": [ "Davenport Donlan syndrome", "dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder." }, "child_count": 0, "reference_id": "MONDO:0022932" }, { "id": 21060, "label": "Davis Lafer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419708", "MESH:C535989", "UMLS:C2931077" ], "synonyms": [ "Lafer Davis syndrome", "intellectual disability unusual facies Davis Lafer type", "mental retardation unusual facies Davis Lafer type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022934" }, { "id": 21061, "label": "de Hauwere Leroy adriaenssens syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419709", "MESH:C535991", "UMLS:C2931078" ], "synonyms": [ "iris dysplasia, orbital hypertelorism, and psychomotor retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022936" }, { "id": 21062, "label": "deafness conductive stapedial ear malformation facial palsy", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022937" }, { "id": 21063, "label": "deafness goiter stippled epiphyses", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022938" }, { "id": 21064, "label": "deafness hypospadias metacarpal and metatarsal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022941" }, { "id": 21065, "label": "deafness mesenteric diverticula of small bowel neuropathy", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022942" }, { "id": 21066, "label": "deafness peripheral neuropathy arterial disease", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022945" }, { "id": 21067, "label": "deafness progressive cataract autosomal dominant", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022946" }, { "id": 21070, "label": "dermatocardioskeletal syndrome boronne type", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022960" }, { "id": 21073, "label": "dextrocardia with situs inversus", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:237234", "UMLS:C1395317" ], "synonyms": [ "situs inversus totalis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus." }, "child_count": 0, "reference_id": "MONDO:0022968" }, { "id": 21074, "label": "diabetes persistent mullerian ducts", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022971" }, { "id": 21076, "label": "diaphragmatic agenesis radial aplasia omphalocele", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022975" }, { "id": 21077, "label": "diaphragmatic hernia exomphalos corpus callosum agenesis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022977" }, { "id": 21078, "label": "diaphragmatic hernia upper limb defects", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022978" }, { "id": 21079, "label": "die Smulders droog van dijk syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022981" }, { "id": 21083, "label": "diomedi bernardi placidi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022989" }, { "id": 21084, "label": "diphallus rachischisis imperforate anus", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022990" }, { "id": 21088, "label": "distichiasis heart congenital anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022999" }, { "id": 21089, "label": "double discordia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:137675", "UMLS:C0332941" ], "synonyms": [ "atrio-ventricular and ventriculo-arterial double Discordia", "corrected transposition" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023002" }, { "id": 21091, "label": "double uterus-hemivagina-renal agenesis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:928221", "UMLS:C4302552" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023005" }, { "id": 21093, "label": "Drachtman Weinblatt Sitarz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5177 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001913", "MEDGEN:419292", "MESH:C535603", "UMLS:C2930947" ], "synonyms": [ "Drachtman Weinblatt Sitarz syndrome", "marrow hypoplasia associated with congenital neurologic anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus." }, "child_count": 0, "reference_id": "MONDO:0023007" }, { "id": 21095, "label": "Duker-Weiss-Siber syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419689", "MESH:C535719", "UMLS:C2930993" ], "synonyms": [ "Duker Weiss Siber syndrome", "microphthalmos, microencephaly, intellectual disability, agenesis of the corpus callosum, hypospadius, and cryptorchidism", "microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023013" }, { "id": 21096, "label": "duodenal atresia tetralogy of fallot", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023015" }, { "id": 21097, "label": "duplication of leg mirror foot", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023016" }, { "id": 21098, "label": "duplication of the thumb unilateral biphalangeal", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023017" }, { "id": 21099, "label": "dupont sellier chochillon syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023018" }, { "id": 21100, "label": "dwarfism bluish sclerae", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023019" }, { "id": 21101, "label": "dwarfism deafness retinitis pigmentosa", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023020" }, { "id": 21102, "label": "dwarfism lethal type advanced bone age", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023021" }, { "id": 21103, "label": "dwarfism thin bones multiple fractures", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023022" }, { "id": 21105, "label": "dysmorphism cleft palate loose skin", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023030" }, { "id": 21106, "label": "Eagle syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24453 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:733.99", "MEDGEN:357035", "MESH:C538010", "SCTID:609143007", "UMLS:C1868714" ], "synonyms": [ "Eagle's syndrome", "elongated styloid process syndrome", "elongated styloid process which causes cervico facial pain tinnitus and otalgia", "styloid-stylohoid syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%." }, "child_count": 0, "reference_id": "MONDO:0023035" }, { "id": 21114, "label": "ectrodactyly cardiopathy dysmorphism", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419342", "MESH:C536187", "UMLS:C2931127" ], "synonyms": [ "Van Den Ende Brunner syndrome", "ectrodactyly of lower limbs, congenital heart defect and characteristic facies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023050" }, { "id": 21116, "label": "Elliott ludman Teebi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:443982", "MESH:C536204", "UMLS:C2931128" ], "synonyms": [ "multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023059" }, { "id": 21117, "label": "enamel hypoplasia cataract hydrocephaly", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023061" }, { "id": 21118, "label": "encephalocele anencephaly", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023062" }, { "id": 21119, "label": "enchondromatosis dwarfism deafness", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Wallis cremin Beighton syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023066" }, { "id": 21121, "label": "Engelhard Yatziv syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023068" }, { "id": 21122, "label": "enlarged vestibular aqueduct syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4547, 21562 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050332", "MEDGEN:355050", "UMLS:C1863752" ], "synonyms": [ "enlarged vestibular aqueduct syndrome", "enlarged vestibular aqueduct", "large vestibular aqueduct syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023069" }, { "id": 21126, "label": "epidermal nevus vitamin D resistant rickets", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023079" }, { "id": 21127, "label": "epimetaphyseal dysplasia cataract", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023083" }, { "id": 21128, "label": "epiphyseal dysplasia dysmorphism camptodactyly", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023084" }, { "id": 21130, "label": "esophageal atresia coloboma talipes", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023091" }, { "id": 21133, "label": "extrasystoles short stature hyperpigmentation microcephaly", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1660843", "UMLS:C4749763" ], "synonyms": [ "Char douglas Dungan syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023098" }, { "id": 21135, "label": "facial clefting corpus callosum agenesis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023100" }, { "id": 21136, "label": "facio digito genital syndrome recessive form", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023101" }, { "id": 21137, "label": "facio skeletal genital syndrome rippberger type", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Ripperger Aase syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023102" }, { "id": 21139, "label": "familial capillaro-venous leptomeningeal angiomatosis", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419030", "MESH:C536609", "UMLS:C2931262" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023111" }, { "id": 21144, "label": "Dursun syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:178503" ], "synonyms": [ "familial pulmonary arterial hypertension leucopenia and atrial septal defect", "familial pulmonary arterial hypertension, leucopenia, and atrial septal defect", "familial PAH, leucopenia and ASD", "familial pulmonary arterial hypertension, leucopenia and ASD" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndromic disease caused by mutation in the G6PC3 gene, characterized by familial pulmonary arterial hypertension, leukopenia, and atrial septal defect." }, "child_count": 0, "reference_id": "MONDO:0023124" }, { "id": 21145, "label": "Faye-Petersen-Ward-Carey syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419797", "MESH:C537076", "UMLS:C2931417" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023133" }, { "id": 21147, "label": "feigenbaum Bergeron syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023137" }, { "id": 21148, "label": "Feingold trainer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419341", "MESH:C536179", "UMLS:C2931126" ], "synonyms": [ "unusual facies, cleft palate, short stature, and intellectual disability", "unusual facies, cleft palate, short stature, and mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023138" }, { "id": 21149, "label": "fetal brain disruption sequence", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023142" }, { "id": 21150, "label": "fetal enterovirus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7368, 17014 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002302" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023143" }, { "id": 21151, "label": "fetal parainfluenza virus type 3 syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17014, 23100 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002309" ], "synonyms": [ "Human respirovirus 3 caused infectious embryofetopathy", "Human respirovirus 3 infectious embryofetopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome caused by HPIV-3." }, "child_count": 0, "reference_id": "MONDO:0023147" }, { "id": 21152, "label": "fetal phenothiazine syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17143 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023148" }, { "id": 21156, "label": "fibromatosis multiple non ossifying", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:450548", "SCTID:715432009", "UMLS:C0796000" ], "synonyms": [ "Jaffe Campanacci syndrome", "disseminated nonossifying fibromas in association with cafe-au-lait spots" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023154" }, { "id": 21157, "label": "fibula aplasia complex brachydactyly", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023155" }, { "id": 21158, "label": "fibular hypoplasia scapulo pelvic dysplasia absent", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023157" }, { "id": 21159, "label": "Fitz-Hugh-Curtis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3192, 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:639814", "MESH:C537936", "SCTID:237041005", "UMLS:C0549148" ], "synonyms": [ "gonococcal perihepatitis", "perihepatitis syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics." }, "child_count": 0, "reference_id": "MONDO:0023158" }, { "id": 21163, "label": "focal alopecia congenital megalencephaly", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023167" }, { "id": 21164, "label": "focal or multifocal malformations in neuronal migration", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023170" }, { "id": 21165, "label": "foix chavany Marie syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4000, 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002351", "MEDGEN:419406", "MESH:C537069", "Orphanet:2048", "SCTID:720956003", "UMLS:C2931412" ], "synonyms": [ "foix chavany Marie syndrome", "anterior opercular syndrome", "bilateral anterior opercular syndrome", "congenital Foix-Chavany-Marie syndrome", "congenital Foix-Chavany-Marie syndrome (subtype)", "facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis", "facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation", "facio-pharyngo-glosso-masticatory diplegia", "opercular syndrome, anterior", "pseudobulbar paralysis, cortical type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved." }, "child_count": 0, "reference_id": "MONDO:0023171" }, { "id": 21166, "label": "Fontaine farriaux blanckaert syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023175" }, { "id": 21172, "label": "Fraser Jequier Chen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419665", "MESH:C535481", "UMLS:C2930912" ], "synonyms": [ "chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023186" }, { "id": 21173, "label": "Freiberg disease", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18460 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002380", "MEDGEN:75532", "MESH:C535636", "Orphanet:564003", "SCTID:28466007", "UMLS:C0264099", "icd11.foundation:74359553" ], "synonyms": [ "Freiberg's disease", "Freiberg's infraction", "Freiberg-Kohler syndrome", "Kohler's second disease", "Osteochondrosis of the metatarsal head, usually the second", "second metatarsal osteochondrosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient." }, "child_count": 0, "reference_id": "MONDO:0023188" }, { "id": 21174, "label": "Friedman Goodman syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023193" }, { "id": 21175, "label": "frontonasal malformation cloacal exstrophy", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "fronto nasal malformation cloacal exstrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023196" }, { "id": 21176, "label": "frontonasal dysplasia Klippel feil syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023197" }, { "id": 21177, "label": "frontonasal dysplasia phocomelic upper limbs", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023199" }, { "id": 21178, "label": "Fryns Fabry Remans syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023200" }, { "id": 21179, "label": "Fryns Smeets Thiry syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002409", "MEDGEN:1803270", "Orphanet:2058", "UMLS:C5680810" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023201" }, { "id": 21180, "label": "Fuchs atrophia gyrata chorioideae et retinae", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:444126", "MESH:C538071", "UMLS:C2931721" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023203" }, { "id": 21181, "label": "Fukuda-Miyanomae-Nakata syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19744 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002411", "Orphanet:2060" ], "synonyms": [ "Cerebromuscular dystrophy, Fukuyama type", "FCMD", "Fukuyama type muscular dystrophy", "muscular dystrophy, congenital progressive, with intellectual disability", "muscular dystrophy, congenital progressive, with mental retardation", "muscular dystrophy, congenital, Fukuyama type", "muscular dystrophy, congenital, with central nervous system involvement" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0023204" }, { "id": 21183, "label": "Fuqua Berkovitz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023208" }, { "id": 21185, "label": "Garret-Tripp syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419297", "MESH:C535646", "UMLS:C2930965" ], "synonyms": [ "Garret Tripp syndrome", "Intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip", "intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip", "mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip", "polydactyly alopecia seborrheic dermatitis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023212" }, { "id": 21186, "label": "gas bloat syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419298", "MESH:C535647", "UMLS:C2930966" ], "synonyms": [ "post-fundoplication syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023214" }, { "id": 21187, "label": "Gaucher ichthyosis restrictive dermopathy", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023221" }, { "id": 21189, "label": "gershinibaruch Leibo syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023226" }, { "id": 21191, "label": "Ghose-Sachdev-Kumar syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:425476", "MESH:C537803", "UMLS:C2974016" ], "synonyms": [ "bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023230" }, { "id": 21194, "label": "gigantism advanced bone age hoarse cry", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023240" }, { "id": 21198, "label": "glossopalatine ankylosis micrognathia ear anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023255" }, { "id": 21201, "label": "goldstein hutt syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419084", "MESH:C537282", "UMLS:C2931465" ], "synonyms": [ "long eyelashes, cataract, and hereditary spherocytosis", "trichomegaly, cataract, and hereditary spherocytosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023267" }, { "id": 21202, "label": "goniodysgenesis intellectual disability short stature", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023272" }, { "id": 21208, "label": "green sandford davison syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419160", "MESH:C538221", "OMIM:601446", "UMLS:C2931777" ], "synonyms": [ "anal anomalies, renal tract abnormalities, genital malformations, and syndactyly", "renal and anogenital malformations with syndactyly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023288" }, { "id": 21209, "label": "grix Blankenship Peterson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "craniofacial and osseous defects intellectual disability", "craniofacial and osseous defects mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023290" }, { "id": 21212, "label": "Ho-Kaufman-McAlister syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419170", "MESH:C538325", "UMLS:C2931819" ], "synonyms": [ "Ho Kaufman McAlister syndrome", "cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet" }, "child_count": 0, "reference_id": "MONDO:0023368" }, { "id": 21220, "label": "Jaffer-Beighton syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 9767 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:444079", "MESH:C537561", "UMLS:C2931533" ], "synonyms": [ "Jaffer Beighton syndrome", "arachnodactyly, joint laxity, and spondylolisthesis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023510" }, { "id": 21222, "label": "Judge Misch wright syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4897, 8031, 18261 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003061", "MEDGEN:419840", "MESH:C537692", "UMLS:C2931590" ], "synonyms": [ "dry skin, photophobia hyperkeratosis, abnormal fingernails", "keratodermia palmoplantar periorificial", "palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0023521" }, { "id": 21226, "label": "Kashani-Strom-Utley syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419069", "MESH:C537010", "Orphanet:1137", "UMLS:C2931392" ], "synonyms": [ "Kashani Strom Utley syndrome", "hypoplastic pulmonary arteries and aorta with obstructive uropathy", "pulmonary aortic stenosis obstructive uropathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023540" }, { "id": 21227, "label": "Kasznica-Carlson-Coppedge syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:444045", "MESH:C537011", "UMLS:C2931393" ], "synonyms": [ "Kasznica Carlson Coppedge syndrome", "ectrodactyly spina bifida cardiopathy", "ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023541" }, { "id": 21228, "label": "Katsantoni-Papadakou-Lagoyanni syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4924 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419400", "MESH:C537012", "UMLS:C2931394" ], "synonyms": [ "Katsantoni Papadakou Lagoyanni syndrome", "Trichodermal syndrome and intellectual disability", "Trichodermal syndrome and mental retardation" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023543" }, { "id": 21232, "label": "Kocher-debre-Semelaigne syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5798, 18613 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025371", "MESH:C537211", "icd11.foundation:109007822" ], "synonyms": [ "Kocher debre Semelaigne disease", "association of muscular pseudohypertrophy and hypothyroidism in children" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0023558" }, { "id": 21233, "label": "Koone-Rizzo-Elias syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419791", "MESH:C537023", "UMLS:C2931397" ], "synonyms": [ "Koone Rizzo Elias syndrome", "ichthyosis, intellectual disability and asymptomatic spasticity", "ichthyosis, mental retardation and asymptomatic spasticity" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023561" }, { "id": 21235, "label": "Kozlowski Brown Hardwick syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419822", "MESH:C537506", "UMLS:C2931511" ], "synonyms": [ "unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023567" }, { "id": 21236, "label": "Kozlowski Ouvrier syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 10275 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027363", "MEDGEN:444073", "MESH:C537508", "UMLS:C2931512" ], "synonyms": [ "agenesis of the corpus callosum with intellectual disability and osseous lesions", "agenesis of the corpus callosum with mental retardation and osseous lesions" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0023569" }, { "id": 21237, "label": "Kozlowski Rafinski Klicharska syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6853 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419432", "MESH:C537509", "UMLS:C2931513" ], "synonyms": [ "metaphyseal and epiphyseal dysplasia with unusual facies and cataract" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0023571" }, { "id": 21238, "label": "Kozlowski Warren Fisher syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17425 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000353", "MEDGEN:419831", "MESH:C537614", "UMLS:C2931546" ], "synonyms": [ "cloverleaf skull generalised bone dysplasia", "cloverleaf skull generalized bone dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023573" }, { "id": 21239, "label": "Krauss Herman Holmes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3271, 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419832", "MESH:C537618", "UMLS:C2931549" ], "synonyms": [ "telecanthus, hypertelorism, strabismus, and pes cavus syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0023575" }, { "id": 21240, "label": "Krieble Bixler syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3271, 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419107", "MESH:C537619", "UMLS:C2931550" ], "synonyms": [ "autosomal dominant blepharophimosis with multiple congenital anomalies" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0023577" }, { "id": 21241, "label": "Kuster Majewski Hammerstein syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:444132", "MESH:C538125", "UMLS:C2931740" ], "synonyms": [ "alopecia macular degeneration growth retardation", "alopecia, macular degeneration, and growth retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023579" }, { "id": 21242, "label": "Kuster syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6518, 16697 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003152", "MEDGEN:419150", "MESH:C538126", "UMLS:C2931741" ], "synonyms": [ "cleft lip and palate, lower lip pits, and limb deficiency defects", "cleft lip palate lip pits limb deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023581" }, { "id": 21248, "label": "Laugier-Hunziker syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:528.9", "MEDGEN:98027", "SCTID:238706002", "UMLS:C0406425" ], "synonyms": [ "Laugier-Hunziker syndrome", "LHS", "Laugier and Hunziker pigmentation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023605" }, { "id": 21249, "label": "Laurence-Prosser-Rocker syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419133", "MESH:C537882", "UMLS:C2931651" ], "synonyms": [ "Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly", "Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023607" }, { "id": 21250, "label": "le Marec-Bracq-Picaud syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:444043", "MESH:C536997", "UMLS:C2931385" ], "synonyms": [ "complex malformation syndrome with brachymesomelia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023609" }, { "id": 21252, "label": "levator syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4590 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:98071", "MESH:C535890", "NCIT:C113615", "SCTID:62647006", "UMLS:C0423738", "icd11.foundation:1042451642" ], "synonyms": [ "levator syndrome", "painful spasm of anus", "anorectal spasm", "levator ani spasm syndrome", "levator ani syndrome", "paroxysmal proctalgia", "proctalgia fugax", "psychogenic anal spasm" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms." }, "child_count": 0, "reference_id": "MONDO:0023628" }, { "id": 21270, "label": "Marinesco-Sjogren-like syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:163207", "MESH:C535913", "OMIM:248810", "UMLS:C0796036" ], "synonyms": [ "Marinesco-Sjogren-like syndrome (MSLS)", "juvenile cataract, cerebellar atrophy, intellectual disability, and myopathy", "juvenile cataract, cerebellar atrophy, mental retardation, and myopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A disease with similar features to Marinesco-Sjogren syndrome." }, "child_count": 0, "reference_id": "MONDO:0023696" }, { "id": 21275, "label": "Milner-Khallouf-Gibson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419429", "MESH:C537473", "UMLS:C2931503" ], "synonyms": [ "Milner Khallouf Gibson syndrome", "microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023809" }, { "id": 21282, "label": "radio-digito-facial dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Van Goethem syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0024171" }, { "id": 21290, "label": "Seckel like syndrome majoor-krakauer type", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Bird-headed dwarfism microcephaly micrognathia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0024234" }, { "id": 21304, "label": "neonatal aspiration syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6971 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:578767", "NCIT:C118312", "SCTID:276533002", "UMLS:C0349468" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn." }, "child_count": 4, "reference_id": "MONDO:0024263" }, { "id": 21403, "label": "muscular fibrosis multifocal obstructed vessels", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:2033" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0024418" }, { "id": 21405, "label": "short stature contractures hypotonia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "Hennekam Koss de Geest syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0024421" }, { "id": 21407, "label": "Alice in Wonderland syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4172, 4370, 20325 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:473310", "MESH:D062026", "NCIT:C116362", "UMLS:C0854348" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities." }, "child_count": 0, "reference_id": "MONDO:0024429" }, { "id": 21723, "label": "megacystis-microcolon-intestinal hypoperistalsis syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 20415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027919", "MEDGEN:296125", "OMIMPS:249210", "UMLS:C1608393" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 15, "reference_id": "MONDO:0025986" }, { "id": 21735, "label": "Basilicata-Akhtar syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111838", "GARD:0025485", "MEDGEN:1684820", "OMIM:301032", "UMLS:C5231394" ], "synonyms": [ "Basilicata-Akhtar syndrome", "Basilicata-Akhtar syndrome, X-linked dominant", "MRXSBA", "Mental Retardation, X-Linked, Syndromic 36", "Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0026730" }, { "id": 21824, "label": "Liberfarb syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022350", "MEDGEN:1709796", "OMIM:618889", "Orphanet:589442", "UMLS:C5394404" ], "synonyms": [ "LIBF", "Liberfarb syndrome", "short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome", "spondyloepimetaphyseal dysplasia, Liberfarb Type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature." }, "child_count": 0, "reference_id": "MONDO:0030045" }, { "id": 22235, "label": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081072", "OMIMPS:213980" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 4, "reference_id": "MONDO:0031329" }, { "id": 22263, "label": "cardiac, facial, and digital anomalies with developmental delay", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022370", "MEDGEN:1648330", "MEDGEN:1809140", "NCIT:C179868", "OMIM:618164", "Orphanet:592570", "UMLS:C4748484", "UMLS:C5681633" ], "synonyms": [ "CAFDADD", "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome", "cardiac, facial, and digital anomalies with developmental delay" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0032572" }, { "id": 22332, "label": "fibrosis, neurodegeneration, and cerebral angiomatosis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027940", "MEDGEN:1648312", "OMIM:618278", "Orphanet:621758", "UMLS:C4748939" ], "synonyms": [ "FINCA", "FINCA syndrome", "fibrosis-neurodegeneration-cerebral angiomatosis syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any syndromic disease caused by a mutation in the NHLRC2 gene and is characterized by severe progressive cerebropulmonary symptoms, resulting in death in infancy from respiratory failure. Features include malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia, and transient liver dysfunction." }, "child_count": 0, "reference_id": "MONDO:0032651" }, { "id": 22736, "label": "Duane anomaly-myopathy-scoliosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7061, 7611 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018842", "Orphanet:50817" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Duane anomaly-myopathy-scoliosis syndrome is characterized by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap." }, "child_count": 0, "reference_id": "MONDO:0033672" }, { "id": 22749, "label": "congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022144", "MEDGEN:1814478", "Orphanet:521432", "UMLS:C5681444" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0033853" }, { "id": 22752, "label": "infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017962", "MEDGEN:1648431", "OMIM:618218", "Orphanet:522077", "UMLS:C4748715" ], "synonyms": [ "Baker-Gordon syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033864" }, { "id": 22756, "label": "acute radiation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 20092 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021896", "MESH:D054508", "Orphanet:454831" ], "synonyms": [ "Acute radiation sickness" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0033938" }, { "id": 22759, "label": "monoclonal mast cell activation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 23764 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012980", "ICD10CM:D89.41", "MEDGEN:1672509", "NCIT:C181652", "Orphanet:529468", "UMLS:C4267893" ], "synonyms": [ "primary MCAS", "primary mast cell activation syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected." }, "child_count": 0, "reference_id": "MONDO:0033954" }, { "id": 22776, "label": "oculocerebrodental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7000, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017993", "MEDGEN:1674537", "OMIM:618440", "Orphanet:557003", "UMLS:C5193101" ], "synonyms": [ "Cataracts, Early-Onset, With Skeletal and Dental Anomalies", "OCSKD", "oculoskeletodental syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0034145" }, { "id": 22781, "label": "syndromic congenital sodium diarrhea", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16096 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022262", "MEDGEN:1805017", "Orphanet:563708", "UMLS:C5680120" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0034204" }, { "id": 22787, "label": "congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022076", "MEDGEN:1807957", "Orphanet:514352", "UMLS:C5680208" ], "synonyms": [ "serpentine-like syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period." }, "child_count": 0, "reference_id": "MONDO:0034895" }, { "id": 22792, "label": "intellectual disability-cardiac anomalies-short stature-joint laxity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017948", "MEDGEN:1799995", "Orphanet:508498", "UMLS:C5568572" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy." }, "child_count": 0, "reference_id": "MONDO:0034989" }, { "id": 22793, "label": "intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017949", "MEDGEN:1799324", "Orphanet:508512", "UMLS:C5567901" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent." }, "child_count": 0, "reference_id": "MONDO:0034991" }, { "id": 22797, "label": "frontonasal dysplasia-bifid nose-upper limb anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022142", "MEDGEN:1799315", "Orphanet:521308", "UMLS:C5567892" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis." }, "child_count": 0, "reference_id": "MONDO:0035018" }, { "id": 22798, "label": "microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022145", "MEDGEN:1830117", "Orphanet:521445", "UMLS:C5681443" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0035027" }, { "id": 22799, "label": "diaphragmatic hernia-short bowel-asplenia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022193", "MEDGEN:1811530", "Orphanet:527468", "UMLS:C5681454" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported." }, "child_count": 0, "reference_id": "MONDO:0035105" }, { "id": 22856, "label": "warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022300", "MEDGEN:1799992", "Orphanet:568056", "UMLS:C5568569" ], "synonyms": [ "WILD syndrome", "disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported." }, "child_count": 0, "reference_id": "MONDO:0035473" }, { "id": 22870, "label": "Cramp-fasciculation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006205", "ICD10CM:G90.8", "MEDGEN:148299", "Orphanet:581271", "UMLS:C0751381" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0035586" }, { "id": 22881, "label": "choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022366", "MEDGEN:1830104", "OMIM:620186", "Orphanet:589856", "UMLS:C5680310" ], "synonyms": [ "BCAHH", "KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome", "branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities." }, "child_count": 0, "reference_id": "MONDO:0035651" }, { "id": 22895, "label": "blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022398", "MEDGEN:1842711", "Orphanet:597746", "UMLS:C5681588" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0035707" }, { "id": 22907, "label": "CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022417", "MEDGEN:1842919", "Orphanet:600668", "UMLS:C5681527" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0035775" }, { "id": 22912, "label": "cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018020", "MEDGEN:1780242", "OMIM:619273", "Orphanet:603448", "UMLS:C5543287" ], "synonyms": [ "CIMDAG syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0035819" }, { "id": 22914, "label": "KLHL7-related Bohring-Opitz-like syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022436", "MEDGEN:1842955", "Orphanet:603689", "UMLS:C5680210" ], "synonyms": [ "KLHL7-related BOS-like syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0035823" }, { "id": 22915, "label": "KLHL7-related cold-induced sweating-like syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022437", "MEDGEN:1842368", "Orphanet:603694", "UMLS:C5680211" ], "synonyms": [ "KLHL7-related Crisponi-like syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0035824" }, { "id": 22931, "label": "KAT6B-related multiple congenital anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022399", "MEDGEN:1843234", "Orphanet:597749", "UMLS:C5680266" ], "synonyms": [ "KAT6B-related disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0036042" }, { "id": 22933, "label": "oculogastrointestinal-neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018024", "MEDGEN:1779113", "OMIM:619318", "Orphanet:611201", "UMLS:C5543355" ], "synonyms": [ "OGIN Syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0036189" }, { "id": 22935, "label": "spastic paraparesis-cataracts-speech delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018033", "OMIM:619338", "Orphanet:615938" ], "synonyms": [ "Fatty acyl-CoA reductase 1 superactivity" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0036212" }, { "id": 23071, "label": "Ruzicka-Goerz-Anton 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"reference_id": "MONDO:0042602" }, { "id": 23076, "label": "Sanderson-Fraser syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419081", "MESH:C537232", "UMLS:C2931450" ], "synonyms": [ "Sanderson Fraser syndrome", "proptosis, Robin association, clenched hands, and multiple abnormalities" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0042603" }, { "id": 23077, "label": "Sandhaus-Ben-Ami syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:444058", "MESH:C537233", "UMLS:C2931451" ], "synonyms": [ "Sandhaus Ben-Ami syndrome", "patella hypoplasia skeletal malformations" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0042604" }, { "id": 23079, "label": "prostatic malacoplakia associated with prostatic abscess", "isLeaf": 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}, { "id": 23118, "label": "thickened earlobes with conductive deafness from incus-stapes abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419750", "MESH:C536511", "UMLS:C2931222" ], "synonyms": [ "thickened earlobes with conductive deafness from incus-stapes abnormalities", "Schweitzer Kemink Graham syndrome", "conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0043087" }, { "id": 23125, "label": "ichthyosis linearis circumflexa", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 16624 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002967", "MEDGEN:78578", "SCTID:54336006", "UMLS:C0265962" ], "synonyms": [ "ichthyosis linearis circumflexa" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0043106" }, { "id": 23126, "label": "infantile striato thalamic degeneration", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:1575" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0043108" }, { "id": 23129, "label": "Landy-Donnai syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419417", "MESH:C537266", "UMLS:C2931460" ], "synonyms": [ "hydrops, ectrodactyly, syndactyly, duplication of the great toes" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0043114" }, { "id": 23135, "label": "merlob grunebaum reisner syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ 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"synonyms": [ "asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0043172" }, { "id": 23152, "label": "Pfeiffer Tietze Welte syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419859", "MESH:C537891", "UMLS:C2931657" ], "synonyms": [ "sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0043174" }, { "id": 23153, "label": "phosphoribosylpyrophosphate synthetase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19115 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025858", "HGNC:9462", "MEDGEN:220944", "MESH:C535995", 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"categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0043197" }, { "id": 23161, "label": "short limb dwarf lethal colavita kozlowski type", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419106", "MESH:C537597", "UMLS:C2931544" ], "synonyms": [ "Colavita Kozlowski syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0043199" }, { "id": 23174, "label": "Mallory-Weiss syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027968", "ICD10CM:K22.6", "MEDGEN:44265", "MESH:D008309", "NCIT:C84881", "SCTID:35265002", "UMLS:C0024633" ], "synonyms": [ "Mallory-Weiss syndrome", "Lacerations-gastroesophageal junction, mucosal", "Lacerations-gastroesophageal junctions, mucosal", "Mallory Weiss laceration", "Mallory Weiss syndrome", "Mallory Weiss tear", "Mallory-Weiss laceration", "Mallory-Weiss tear", "gastro-esophageal laceration-hemorrhage syndrome", "gastroesophageal laceration haemorrhage", "gastroesophageal laceration hemorrhage", "gastroesophageal laceration-hemorrhage", "gastroesophageal laceration-hemorrhage syndrome", "gastroesophageal laceration-hemorrhages", "junction, mucosal Lacerations-gastroesophageal", "junctions, mucosal Lacerations-gastroesophageal", "laceration, Mallory-Weiss", "laceration-hemorrhage, gastroesophageal", "laceration-hemorrhages, gastroesophageal", "mucosal Lacerations gastroesophageal junction", "mucosal Lacerations-gastroesophageal junction", "mucosal Lacerations-gastroesophageal junctions", "mucosal lacerations - gastroesophageal junction", "syndrome, Mallory-Weiss" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics." }, "child_count": 0, "reference_id": "MONDO:0043247" }, { "id": 23184, "label": "superior vena cava syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7065 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:52576", "MESH:D013479", "NCIT:C3396", "SCTID:63363004", "UMLS:C0038833" ], "synonyms": [ "superior vena cava syndrome", "SVC obstruction", "SVC syndrome", "SVCS", "superior vena cava obstruction", "superior vena cava thrombosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache." }, "child_count": 0, "reference_id": "MONDO:0043287" }, { "id": 23193, "label": "piriformis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5507, 21362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010026", "MEDGEN:141601", "MESH:D055958", "NCIT:C85012", "SCTID:129179000", "UMLS:C0458224" ], "synonyms": [ "piriformis muscle syndrome", "piriformis syndrome", "Pseudosciatica", "deep gluteal syndrome", "hip socket neuropathy", "muscle syndrome, piriformis", "muscle syndromes, piriformis", "pelvic outlet syndrome", "piriformis muscle syndromes", "piriformis syndromes", "pyriformis syndrome", "syndrome, piriformis", "syndrome, piriformis muscle", "syndromes, piriformis", "syndromes, piriformis muscle", "wallet sciatica" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica." }, "child_count": 0, "reference_id": "MONDO:0043320" }, { "id": 23202, "label": "engraftment syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24617 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0011909", "MEDGEN:214709", "NCIT:C63324", "SCTID:426768001", "UMLS:C0919746" ], "synonyms": [ "engraftment syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation." }, "child_count": 0, "reference_id": "MONDO:0043358" }, { "id": 23216, "label": "Adams-Stokes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 10115 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1741", "MESH:D000219", "NCIT:C79765", "SCTID:46935006", "UMLS:C0001396" ], "synonyms": [ "Stokes-Adams syndrome", "Adam Stokes attacks", "Adam-Stokes attacks", "Adams Stokes syndrome", "Stokes Adams attacks", "Stokes Adams syndrome", "Stokes-Adams attacks", "Stokes-Adams-morgagni syndrome", "attacks, Adam-Stokes", "attacks, Stokes-Adams", "syndrome, Adams-Stokes", "syndrome, Stokes-Adams" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery." }, "child_count": 0, "reference_id": "MONDO:0043475" }, { "id": 23235, "label": "Leriche syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7210 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:44114", "MESH:D007925", "NCIT:C34773", "SCTID:307816004", "UMLS:C0023370" ], "synonyms": [ "Leriche syndrome", "leriche's syndrome", "Leriche's syndrome", "Leriches syndrome", "syndrome, Leriche", "syndrome, Leriche's" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention." }, "child_count": 0, "reference_id": "MONDO:0043683" }, { "id": 23238, "label": "multiple organ dysfunction syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:6462", "MESH:D009102", "NCIT:C179648", "SCTID:57653000", "UMLS:C0026766" ], "synonyms": [ "multiorgan failure", "multiple organ dysfunction syndrome", "multiple organ failure", "multiple organ system failure", "MODS", "failure, multiple organ", "multi-organ failure", "multiple organ failures", "multiple organ systems failure", "multiple systems organ failure", "multisystem organ failure", "organ dysfunction syndrome, multiple", "organ failure, multiple" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult." }, "child_count": 0, "reference_id": "MONDO:0043726" }, { "id": 23275, "label": "posterior leukoencephalopathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 8244 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:I67.83", "MEDGEN:163898", "MESH:D054038", "NCIT:C78598", "SCTID:450886002", "UMLS:C0878576" ], "synonyms": [ "PRES", "Posterior reversible encephalopathy syndrome", "RPLE", "posterior reversible encephalopathy syndrome", "reversible Posterior cerebral edema syndrome", "reversible Posterior cerebral oedema syndrome", "reversible Posterior leukoencephalopathy syndrome", "reversible occipital parietal encephalopathy", "reversible posterior leukoencephalopathy syndrome", "leukoencephalopathy syndrome, Posterior", "leukoencephalopathy syndromes, Posterior", "syndrome, Posterior leukoencephalopathy", "syndromes, Posterior leukoencephalopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment." }, "child_count": 0, "reference_id": "MONDO:0044033" }, { "id": 23279, "label": "cardio-renal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6955 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:453248", "MESH:D059347", "NCIT:C123225", "SCTID:445236007", "UMLS:C2242703" ], "synonyms": [ "cardiorenal syndrome", "Reno Cardiac syndrome", "Reno-Cardiac syndrome", "Reno-Cardiac syndromes", "Renocardiac syndrome", "Renocardiac syndromes", "cardio renal syndrome", "cardio-renal syndromes", "cardiorenal syndromes", "syndrome, Reno-Cardiac", "syndrome, Renocardiac", "syndrome, cardio-renal", "syndrome, cardiorenal", "syndromes, Reno-Cardiac", "syndromes, Renocardiac", "syndromes, cardio-renal", "syndromes, cardiorenal" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ." }, "child_count": 0, "reference_id": "MONDO:0044079" }, { "id": 23326, "label": "Rahman syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013422", "MEDGEN:1388282", "OMIM:617537", "Orphanet:642763", "UMLS:C4479637" ], "synonyms": [ "Rahman syndrome", "autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation", "RMNS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017})." }, "child_count": 0, "reference_id": "MONDO:0044323" }, { "id": 23354, "label": "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021990", "MEDGEN:1798943", "Orphanet:482606", "UMLS:C5567520" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0044617" }, { "id": 23367, "label": "retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081175", "GARD:0017903", "MEDGEN:1615526", "OMIM:617763", "Orphanet:494439", "UMLS:C4540367" ], "synonyms": [ "retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome", "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0044634" }, { "id": 23374, "label": "congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4427, 16087, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022010", "MEDGEN:1798878", "Orphanet:495875", "UMLS:C5567455" ], "synonyms": [ "congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044643" }, { "id": 23563, "label": "Lopes-Maciel-Rodan syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009904", "GARD:0027986", "MEDGEN:1379711", "OMIM:617435", "UMLS:C4479491" ], "synonyms": [ "Lopes-Maciel-Rodan syndrome", "LOMARS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0054573" }, { "id": 23568, "label": "Stankiewicz-Isidor syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027062", "MEDGEN:1375936", "OMIM:617516", "UMLS:C4479599" ], "synonyms": [ "Stankiewicz-Isidor syndrome", "STISS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems." }, "child_count": 0, "reference_id": "MONDO:0054591" }, { "id": 23573, "label": "Skraban-Deardorff syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017953", "MEDGEN:1627555", "NORD:153230", "OMIM:617616", "Orphanet:513456", "UMLS:C4539927" ], "synonyms": [ "Skraban-Deardorff syndrome", "WDR26-Related Disorder", "SKDEAS", "intellectual disability with seizures, abnormal Gait, and distinctive Facial features" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0054636" }, { "id": 23696, "label": "joint laxity, short stature, and myopia", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 19507 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017963", "MEDGEN:1621331", "OMIM:617662", "Orphanet:527450", "UMLS:C4540020" ], "synonyms": [ "joint laxity, short stature, and myopia", "JLSM" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0060556" }, { "id": 23707, "label": "Sweeney-Cox syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080538", "MEDGEN:1625659", "OMIM:617746", "UMLS:C4540299" ], "synonyms": [ "Sweeney-Cox syndrome", "SWCOS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0060592" }, { "id": 23715, "label": "Alkuraya-Kucinskas syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111555", "GARD:0018022", "MEDGEN:1634304", "OMIM:617822", "Orphanet:610569", "UMLS:C4693347" ], "synonyms": [ "Alkuraya-Kucinskas syndrome", "ALKKUCS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0060631" }, { "id": 23733, "label": "Jaberi-Elahi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1647359", "OMIM:617988", "UMLS:C4693848" ], "synonyms": [ "Jaberi-Elahi syndrome", "JABELS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0060711" }, { "id": 23745, "label": "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081327", "GARD:0022396", "MEDGEN:1648345", "OMIM:618088", "Orphanet:597623", "UMLS:C4748127" ], "synonyms": [ "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome", "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures", "NEDAMSS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060759" }, { "id": 23821, "label": "hearing impairment and infertile male syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "HIIMS", "hearing impairment and infertile male syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology." }, "child_count": 0, "reference_id": "MONDO:0100069" }, { "id": 23823, "label": "cardiocutaneous syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1843498", "UMLS:C0543816" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation." }, "child_count": 0, "reference_id": "MONDO:0100071" }, { "id": 23824, "label": "neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients." }, "child_count": 0, "reference_id": "MONDO:0100072" }, { "id": 23832, "label": "cardioectodermal syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "cardio-ectodermal syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndromic disease with phenotypic manifestations in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation." }, "child_count": 2, "reference_id": "MONDO:0100080" }, { "id": 23845, "label": "cannabinoid hyperemesis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1829968", "UMLS:C5243764", "icd11.foundation:908145983" ], "synonyms": [ "CHS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment." }, "child_count": 0, "reference_id": "MONDO:0100094" }, { "id": 23850, "label": "retrograde cricopharyngeus dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "R-CPD" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD." }, "child_count": 0, "reference_id": "MONDO:0100099" }, { "id": 23859, "label": "Zinner syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction." }, "child_count": 0, "reference_id": "MONDO:0100109" }, { "id": 23897, "label": "retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "RAPH syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes." }, "child_count": 0, "reference_id": "MONDO:0100155" }, { "id": 23953, "label": "IFAP syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16624 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002952", "MEDGEN:327007", "OMIMPS:308205", "Orphanet:2273", "UMLS:C1839988" ], "synonyms": [ "IFAP syndrome", "ichthyosis follicularis-alopecia-photophobia syndrome", "ichthyosis follicularis-atrichia-photophobia syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 4, "reference_id": "MONDO:0100212" }, { "id": 23957, "label": "DICER1-related tumor predisposition", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081063", "GARD:0010734", "ICD9:199.1", "MEDGEN:825667", "NCIT:C123317", "Orphanet:284343", "SCTID:702411003", "UMLS:C3839822" ], "synonyms": [ "DICER1 syndrome", "PPB familial tumour susceptibility syndrome", "PPBFTDS", "pleuro-pulmonary blastoma familial tumour susceptibility syndrome", "pleuropulmonary blastoma familial tumour susceptibility syndrome", "DICER1-related pleuropulmonary blastoma", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described." }, "child_count": 4, "reference_id": "MONDO:0100216" }, { "id": 23991, "label": "Roberts-SC phocomelia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050536", "DOID:5325", "GARD:0007387", "MEDGEN:95931", "MESH:C535687", "NCIT:C4681", "OMIM:268300", "OMIM:269000", "Orphanet:3103", "SCTID:48718006", "UMLS:C0392475" ], "synonyms": [ "Appelt-Gerken-Lenz syndrome", "ESCO2 spectrum disorder", "RBS", "Roberts syndrome", "Roberts syndrome/SC phocomelia", "Roberts tetraphocomelia syndrome", "Roberts-SC phocomelia syndrome", "SC phocomelia syndrome", "hypomelia hypotrichosis facial hemangioma syndrome", "long bone deficiencies associated with cleft lip-palate", "phocomelia-pseudothalidomide syndrome", "pseudothalidomide syndrome", "tetraphocomelia-cleft palate syndrome", "SC phocomelia", "SC phocomelia syndrome (mild variant of Roberts syndrome)", "SC pseudothalidomide syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities." }, "child_count": 0, "reference_id": "MONDO:0100253" }, { "id": 24075, "label": "carcinoid syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000852", "GARD:0005994", "ICD10CM:E34.0", "ICD9:259.2", "MEDGEN:6191", "MedDRA:10007270", "NCIT:C3215", "NORD:890", "Orphanet:100093", "SCTID:35868009", "UMLS:C0024586", "icd11.foundation:111763187" ], "synonyms": [ "carcinoid syndrome", "malignant carcinoid syndrome", "carcinoid tumor syndrome", "carcinoid tumors, intestinal", "carcinoid tumour syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 1, "reference_id": "MONDO:0100347" }, { "id": 24218, "label": "Bonnevie-Ullrich syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:315907", "NCIT:C34434", "UMLS:C1527168" ], "synonyms": [ "Bonnevie-Ullrich syndrome", "Bonnevie-Ulrich syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy." }, "child_count": 0, "reference_id": "MONDO:0100492" }, { "id": 24245, "label": "NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027999" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998." }, "child_count": 9, "reference_id": "MONDO:0100520" }, { "id": 24283, "label": "RNU4ATAC spectrum disorder", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027275" ], "synonyms": [ "RNU4ATAC-related disorder", "RNU4atac-opathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome." }, "child_count": 6, "reference_id": "MONDO:0100558" }, { "id": 24336, "label": "syndromic congenital heart disease", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7116 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions." }, "child_count": 16, "reference_id": "MONDO:0100614" }, { "id": 24444, "label": "hand-foot syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6820 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:107497", "MESH:D060831", "NCIT:C27177", "UMLS:C0549410" ], "synonyms": [ "palmar-plantar erythrodysthesia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents." }, "child_count": 0, "reference_id": "MONDO:0700048" }, { "id": 24781, "label": "central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease", "isLeaf": true, "isRoot": false, "parents": [ 3525, 4370, 4427, 20691, 24270, 24785 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060731", "GARD:0008535", "MEDGEN:1794285", "MedDRA:10007982", "MedDRA:10066131", "NCIT:C98889", "OMIM:209880", "Orphanet:661", "SCTID:230499002", "UMLS:C5562075", "icd11.foundation:1750742010" ], "synonyms": [ "CCHS", "Ondine curse", "Ondine curse, congenital", "Ondine syndrome", "autonomic control, congenital failure of", "congenital Ondine curse", "congenital central alveolar hypoventilation syndrome", "congenital central hypoventilation", "congenital central hypoventilation syndrome", "CCHS with Hirschsprung disease", "Haddad syndrome", "Ondine curse (formerly)", "Ondine's curse (formerly)", "Ondine-Hirschsprung disease", "central hypoventilation syndrome, congenital", "congenital failure of autonomic control", "idiopathic congenital central alveolar hypoventilation", "primary alveolar hypoventilation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients." }, "child_count": 0, "reference_id": "MONDO:0800026" }, { "id": 24784, "label": "gastrointestinal defects and immunodeficiency syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 4370, 22059 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14671", "GARD:0017731", "MEDGEN:1872649", "OMIM:243150", "UMLS:C5968858" ], "synonyms": [ "intestinal atresia, multiple", "FIPA", "MINAT", "familial intestinal polyatresia syndrome", "multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency", "CID-MIA/early-onset IBD", "combined immunodeficiency-enteropathy spectrum" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood." }, "child_count": 0, "reference_id": "MONDO:0800030" }, { "id": 24878, "label": "achalasia-alacrima syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "synonyms": [ "AAAS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0800195" }, { "id": 24905, "label": "black locks with albinism and deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:82812", "UMLS:C0268501" ], "synonyms": [ "BADS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0800300" }, { "id": 25032, "label": "Birt-Hogg-Dube syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028061", "MEDGEN:91070", "OMIMPS:135150", "UMLS:C0346010" ], "synonyms": [ "BHD" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 4, "reference_id": "MONDO:0800444" }, { "id": 25062, "label": "trigeminal trophic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027074", "MEDGEN:698241", "Orphanet:664901", "UMLS:C1274928", "icd11.foundation:983392135" ], "synonyms": [ "TTS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by an uncommon and relatively unknown cause of facial ulceration that occurs after damage to the trigeminal nerve. It characteristically involves non-healing facial ulceration(s) with accompanying anesthesia, paresthesia, and dysesthesia along the distribution of a trigeminal dermatome." }, "child_count": 0, "reference_id": "MONDO:0800478" }, { "id": 25085, "label": "developmental and/or epileptic encephalopathy with spike-wave activation in sleep", "isLeaf": false, "isRoot": false, "parents": [ 4370, 25084 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027304", "MEDGEN:1790601", "Orphanet:725", "UMLS:C5552731" ], "synonyms": [ "CSWS", "CSWSS syndrome", "DEE-SWAS", "EE-SWAS", "EESWAS", "ESES with language regression", "LK syndrome", "LKS", "continuous slow spike and wave of sleep", "continuous spike-wave during slow sleep syndrome", "continuous spike-wave in sleep", "continuous spikes and waves during sleep", "continuous spikes and waves during slow-wave sleep", "developmental and epileptic encephalopathy with spike-wave activation in sleep", "electrical status epilepticus of sleep", "electrographic status epilepticus in sleep", "electrographic status epilepticus of sleep", "epileptic aphasia", "epileptic encephalopathy with continuous spike-and-wave during slow sleep", "epileptic encephalopathy with spike and wave activation in sleep", "epileptic encephalopathy with spike-and-wave activation in sleep", "eses index" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. This syndrome encompasses the previous syndromes epileptic encephalopathy with continuous spike-wave in sleep and atypical childhood epilepsy with centrotemporal spikes (also previously known as pseudo-Lennox syndrome and atypical benign partial epilepsy)." }, "child_count": 2, "reference_id": "MONDO:0800501" }, { "id": 25093, "label": "syndromic microspherophakia", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022093", "MEDGEN:1842434", "Orphanet:519294", "UMLS:C5681371" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0850009" }, { "id": 25101, "label": "painful legs and moving toes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012706", "MEDGEN:1842291", "Orphanet:617440", "UMLS:C5680388" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0850049" }, { "id": 25102, "label": "congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022453", "MEDGEN:1842244", "Orphanet:617449", "UMLS:C5681820" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0850050" }, { "id": 25106, "label": "hereditary persistence of fetal hemoglobin-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022458", "Orphanet:619233" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0850059" }, { "id": 25114, "label": "developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022468", "MEDGEN:1842938", "Orphanet:619979", "UMLS:C5681830" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0850071" }, { "id": 25128, "label": "primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022484", "MEDGEN:1842330", "Orphanet:620363", "UMLS:C5681826" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0850087" }, { "id": 25131, "label": "post-cardiac arrest syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070306", "MEDGEN:1672555", "UMLS:C4285706" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0850092" }, { "id": 25150, "label": "early-onset obesity-hyperphagia-severe developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019685", "Orphanet:99704" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0850115" }, { "id": 25176, "label": "hereditary alpha tryptasemia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080714", "MEDGEN:1797172", "UMLS:C5565749" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0850201" }, { "id": 25243, "label": "KINSSHIP syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112383", "MEDGEN:1779339", "OMIM:619297", "UMLS:C5543317" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2." }, "child_count": 0, "reference_id": "MONDO:0851095" }, { "id": 25252, "label": "developmental delay, hypotrophy, and dysmorphic features without moebius syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081264" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has material basis in homozygous ultra-rare REV3L variant (T2753R)." }, "child_count": 0, "reference_id": "MONDO:0858926" }, { "id": 25264, "label": "breast implant illness", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4708 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081323" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0002657", "name": "breast disorder" } ], "definition": "A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. This syndrome may be related to breast implants" }, "child_count": 0, "reference_id": "MONDO:0858974" }, { "id": 25663, "label": "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:301108" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 4, "reference_id": "MONDO:0957400" }, { "id": 25692, "label": "craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026847", "MEDGEN:1843399", "Orphanet:647681", "UMLS:C5816752" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0957473" }, { "id": 25694, "label": "MYT1L-related developmental delay-intellectual disability-obesity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026849", "MEDGEN:1843395", "Orphanet:647799", "UMLS:C5816753" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0957477" }, { "id": 25718, "label": "Houge-Janssens syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:616355" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 8, "reference_id": "MONDO:0957553" }, { "id": 25740, "label": "xerosis and growth failure with immune and pulmonary dysfunction syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1848919", "OMIM:620510", "UMLS:C5882692" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0957786" }, { "id": 25741, "label": "Fliedner-Zweier syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070653", "MEDGEN:1845438", "OMIM:620511", "UMLS:C5882693" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0957787" }, { "id": 25769, "label": "Lui-Jee-Baron syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1849943", "OMIM:301114", "UMLS:C5882664" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0957919" }, { "id": 25779, "label": "Long-Olsen-Distelmaier syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1847052", "OMIM:620609", "UMLS:C5882721" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0957960" }, { "id": 25786, "label": "Tan-Almurshedi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1848300", "OMIM:620641", "UMLS:C5882727" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0957990" }, { "id": 25790, "label": "diabetes, deafness, developmental delay, and short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1845412", "OMIM:620651", "UMLS:C5882732" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0957997" }, { "id": 25793, "label": "Alfadhel syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1845825", "OMIM:620655", "UMLS:C5882735" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0958001" }, { "id": 25794, "label": "Hoxha-Aliu syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1846017", "OMIM:620662", "UMLS:C5882736" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0958005" }, { "id": 25814, "label": "cleft palate-congenital heart defect-intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026923", "MEDGEN:1859712", "Orphanet:652519", "UMLS:C5924219" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 2, "reference_id": "MONDO:0958091" }, { "id": 25824, "label": "congenital insensitivity to pain syndrome, Marsili type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081075", "GARD:0026933", "MESH:C564128", "OMIM:147430", "Orphanet:653728" ], "synonyms": [ "MARSILI syndrome", "MARSIS", "Marsili syndrome", "congenital analgesia, autosomal dominant", "indifference to pain, congenital, autosomal dominant", "insensitivity to pain, congenital, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A pain insensitivity disorder in which the cause of the disease is a mutation in ZFHX2 gene. It is characterized by a lowered ability to sense pain, to experience temperature, and to sweat." }, "child_count": 0, "reference_id": "MONDO:0958106" }, { "id": 25877, "label": "Yuksel-Vogel-Bauer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1847314", "OMIM:620703", "UMLS:C5882751" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0958205" }, { "id": 25881, "label": "polydactyly-macrocephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1847761", "OMIM:620712", "UMLS:C5882754" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0958227" }, { "id": 25897, "label": "pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026986", "MEDGEN:1853171", "Orphanet:641385", "UMLS:C5816788" ], "synonyms": [ "PASS syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0958256" }, { "id": 25898, "label": "psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026987", "MEDGEN:1853239", "Orphanet:641390", "UMLS:C5816786" ], "synonyms": [ "PSAPASH syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0958257" }, { "id": 25916, "label": "megalencephaly-polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1855924", "OMIM:620748", "UMLS:C5935591" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0958279" }, { "id": 25979, "label": "Leigh syndrome, mitochondrial", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:500017" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0970944" }, { "id": 25995, "label": "auroneurodental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1861965", "OMIM:620830", "UMLS:C5889721" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0970998" }, { "id": 26028, "label": "orofacial clefting-cardiac anomalies-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027166", "MEDGEN:1864391", "Orphanet:660021", "UMLS:C5925125" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0971064" }, { "id": 26033, "label": "Grisel syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027171", "MEDGEN:538169", "Orphanet:662255", "UMLS:C0263885" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0971080" }, { "id": 26086, "label": "arterial tortuosity-bone fragility syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7065, 7171, 21247, 23977 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028086", "MEDGEN:1855920", "OMIM:620908", "UMLS:C5935641" ], "synonyms": [ "EMILIN1-related arterial tortuosity syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A syndromic disease with a spectrum of manifestations in the cardiovascular system and other organ systems caused by disease-causing variants in the EMILIN1 gene, inherited in an autosomal recessive manner. Affected individuals have impaired elastogenesis with defective collagen fibrillogenesis which can lead to arterial tortuosity, bone fragility and other manifestations including dysmorphic facial features, cutis laxa, joint hypermobility, congenital heart malformations, arterial stenosis, and aortic root dilatation. Cases may present prenatally or in early childhood." }, "child_count": 0, "reference_id": "MONDO:0971179" }, { "id": 26088, "label": "dialysis disequilibrium syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070564" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma." }, "child_count": 0, "reference_id": "MONDO:0975708" }, { "id": 26094, "label": "brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1863635", "Orphanet:664416", "UMLS:C5925059" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0975751" }, { "id": 26104, "label": "Kariminejad neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061158", "MEDGEN:1874901", "OMIM:620937", "UMLS:C5975371" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975795" }, { "id": 26106, "label": "myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1874910", "OMIM:620939", "UMLS:C5975380" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0975797" }, { "id": 26108, "label": "brain malformation renal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1874920", "OMIM:620943", "UMLS:C5975390" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0975799" }, { "id": 26121, "label": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061184", "GARD:0027327", "MEDGEN:1874979", "OMIM:620971", "UMLS:C5975449" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0975830" }, { "id": 26126, "label": "Karayol-Borroto-Haghshenas neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1875006", "OMIM:620985", "UMLS:C5975476" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975836" }, { "id": 26127, "label": "neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1875007", "OMIM:620987", "UMLS:C5975477" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0975837" }, { "id": 26136, "label": "Morimoto-Ryu-Malicdan neuromuscular syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24271 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027404", "MEDGEN:1875051", "OMIM:621010", "UMLS:C5975521" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975848" }, { "id": 26147, "label": "neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1875057", "OMIM:621012", "UMLS:C5975527" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975874" }, { "id": 26149, "label": "neurodevelopmental disorder with variable familial hypercholanemia", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1875058", "OMIM:621016", "UMLS:C5975528" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975877" }, { "id": 26175, "label": "Pan-Chung-Bellen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061146", "MEDGEN:1875077", "OMIM:621049", "UMLS:C5975547" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0975953" }, { "id": 26177, "label": "telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1875087", "OMIM:621056", "UMLS:C5975557" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0975957" }, { "id": 26183, "label": "Muggenthaler-Chowdhury-Chioza syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022068", "GARD:0028097", "MEDGEN:1800190", "MEDGEN:1875116", "OMIM:621063", "Orphanet:508476", "UMLS:C5568767", "UMLS:C5975586" ], "synonyms": [ "cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome", "cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome", "hyaluronidase 2 deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0976127" }, { "id": 26215, "label": "Tayoun-Maawali syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876512", "OMIM:621184", "UMLS:C6012717" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0976286" }, { "id": 26216, "label": "ragopathy", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061140" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome caused by a variation in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates." }, "child_count": 0, "reference_id": "MONDO:0976294" }, { "id": 26217, "label": "cardiovascular-kidney-metabolic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070635" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity." }, "child_count": 0, "reference_id": "MONDO:0976301" }, { "id": 26222, "label": "craniofaciocardiohepatic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876487", "OMIM:621192", "UMLS:C6012720" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0978295" }, { "id": 26223, "label": "FICUS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876514", "OMIM:621193", "UMLS:C6011251" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0978296" }, { "id": 26230, "label": "Li-Takada-Miyake syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876532", "OMIM:621212", "UMLS:C6012727" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0978303" }, { "id": 26236, "label": "Guillouet-Gordon syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876455", "OMIM:621220", "UMLS:C6012729" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0979227" }, { "id": 26243, "label": "ICHAD syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876542", "OMIM:621234", "Orphanet:699599", "UMLS:C6012290" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0979234" }, { "id": 26249, "label": "cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876523", "OMIM:621252", "UMLS:C6012743" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0979240" }, { "id": 26261, "label": "RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16075 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:692812" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0979261" }, { "id": 26323, "label": "oculovertebral syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621277" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0979866" }, { "id": 26325, "label": "Alsahan-Harris syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028123", "OMIM:621307" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0979871" }, { "id": 26330, "label": "Ververi-Brady syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1647785", "OMIMPS:617982", "UMLS:C4693824" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 4, "reference_id": "MONDO:0979877" }, { "id": 26336, "label": "Dursun-Ozgul neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621344" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979898" }, { "id": 26342, "label": "immune dysregulation, neurodevelopmental defects, and colitis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621375" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0980702" }, { "id": 26343, "label": "Harel-Tora neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621377" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980703" }, { "id": 26347, "label": "Valence-Farazi cerebellar ataxia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24270 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621386" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980707" }, { "id": 26352, "label": "dyschromatosis, ichthyosis, deafness, and atopic disease", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621400" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0980712" }, { "id": 26371, "label": "Ramond-Elliott neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621421" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980751" }, { "id": 26401, "label": "STAD syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621495" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0980973" }, { "id": 26402, "label": "craniosynostosis-scoliosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621499" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0980974" }, { "id": 26533, "label": "loin pain hematuria syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21350 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:78696", "UMLS:C0268712" ], "synonyms": [ "LPHS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare and debilitating renal pain disorder characterized by chronic, severe loin pain with or without micro- or macroscopic hematuria." }, "child_count": 0, "reference_id": "MONDO:1010111" }, { "id": 29242, "label": "IRF6-related condition", "isLeaf": false, "isRoot": false, "parents": [ 4370 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Van der Woude syndrome, popliteal pterygium syndrome, cleft lip with or without palate, or a spectrum of one or two of those conditions in which the cause of the disease is a mutation in the IRF6 gene." }, "child_count": 2, "reference_id": "MONDO:1040010" }, { "id": 29253, "label": "linkeropathy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7171, 21247 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region." }, "child_count": 9, "reference_id": "MONDO:1040022" }, { "id": 29254, "label": "NDUFB11-related disorders", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A group of rare genetic conditions caused by variants in the NDUFB11 gene. Presentation is heterogenous including neurologic, cardiac, ocular, and dermatological abnormalities." }, "child_count": 4, "reference_id": "MONDO:1040023" }, { "id": 29370, "label": "CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714 ], "type_id": 0, "properties": { "synonyms": [ "CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder", "alpha-B crystallinopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndromic disease caused by a variation in the CRYAB gene, and characterized by a spectrum of phenotypes including cardiomyopathy, cataract, and/or myopathy." }, "child_count": 6, "reference_id": "MONDO:1060212" }, { "id": 29393, "label": "antiphospholipid syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2988", "EFO:0002689", "GARD:0005824", "ICD10CM:D68.61", "ICD9:279.49", "MEDGEN:38834", "MESH:D016736", "NCIT:C61283", "Orphanet:80", "SCTID:26843008", "UMLS:C0085278", "icd11.foundation:1173370808" ], "synonyms": [ "Hughes syndrome", "antiphospholipid antibody syndrome", "antiphospholipid syndrome", "familial lupus anticoagulant", "lupus anticoagulant, familial" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease." }, "child_count": 8, "reference_id": "MONDO:8000010" } ], "roots": [ { "id": 29379, "label": "disease by body system or component" } ] }