{ "id": 4427, "label": "congenital nervous system disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0002320", "properties": { "xrefs": [ "DOID:2490", "ICD9:742", "MEDGEN:105425", "NCIT:C97172", "UMLS:C0497552" ], "synonyms": [ "congenital abnormality of the nervous system", "congenital nervous system disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period." }, "isLeaf": false, "isRoot": false, "child_count": 217, "parents": [ { "id": 6799, "label": "nervous system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:863", "EFO:0000618", "ICD10CM:G00-G99", "ICD9:349.89", "ICD9:349.9", "MEDGEN:14336", "MESH:D009422", "NCIT:C26835", "SCTID:118940003", "UMLS:C0027765", "Wikipedia:Nervous_system_disease" ], "synonyms": [ "disease of nervous system", "disease or disorder of nervous system", "disorder of nervous system", "nervous system disease", "nervous system disease or disorder", "nervous system disorder", "neurologic disease", "neurologic disorder", "neurological disease", "neurological disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves." }, "child_count": 72, "reference_id": "MONDO:0005071" } ], "children": [ { "id": 2720, "label": "polymicrogyria", "isLeaf": false, "isRoot": false, "parents": [ 4427 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080918", "GARD:0018818", "MEDGEN:78605", "MESH:D065706", "NANDO:1201071", "NCIT:C116936", "Orphanet:35981", "SCTID:4945003", "UMLS:C0266464", "icd11.foundation:2081858551" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction." }, "child_count": 2, "reference_id": "MONDO:0000087" }, { "id": 2761, "label": "congenital myasthenic syndrome with tubular aggregates", "isLeaf": false, "isRoot": false, "parents": [ 4427, 18862 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022723", "OMIMPS:610542" ], "synonyms": [ "CMS-TA", "myasthenic syndrome, congenital, with tubular aggregates" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers." }, "child_count": 6, "reference_id": "MONDO:0000182" }, { "id": 2768, "label": "prenatal-onset spinal muscular atrophy with congenital bone fractures", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16094, 21302 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017882", "MEDGEN:1798941", "OMIMPS:616866", "Orphanet:486811", "UMLS:C5567518" ], "synonyms": [ "SMABF", "spinal muscular atrophy with congenital bone fractures" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0000209" }, { "id": 3145, "label": "anencephaly", "isLeaf": false, "isRoot": false, "parents": [ 4427, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060668", "GARD:0027563", "ICD10CM:Q00.0", "MEDGEN:8068", "MESH:D000757", "NCIT:C84560", "OMIMPS:206500", "UMLS:C0002902", "icd11.foundation:1292761836" ], "synonyms": [ "anencephalus" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus." }, "child_count": 8, "reference_id": "MONDO:0000819" }, { "id": 3146, "label": "cerebral cavernous malformation", "isLeaf": false, "isRoot": false, "parents": [ 4427 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060669", "MEDGEN:418825", "NCIT:C84626", "Orphanet:164", "UMLS:C2919945", "icd11.foundation:916773262" ], "synonyms": [ "CCM", "brain cavernous hemangioma", "cerebral cavernous malformation", "familial cavernous angioma" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur." }, "child_count": 1, "reference_id": "MONDO:0000820" }, { "id": 3392, "label": "meningocele", "isLeaf": false, "isRoot": false, "parents": [ 4427 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1088", "HP:0002435", "MEDGEN:44356", "MESH:D008588", "NCIT:C101209", "NCIT:C105595", "Orphanet:93968", "SCTID:171131006", "UMLS:C0025299" ], "synonyms": [ "central nervous system meningocele", "meningocele", "meningocele (disease)", "spinal meningocele" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium." }, "child_count": 1, "reference_id": "MONDO:0001147" }, { "id": 6902, "label": "progressive external ophthalmoplegia", "isLeaf": false, "isRoot": false, "parents": [ 4427, 5353, 10856, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12558", "EFO:0002509", "GARD:0004503", "HP:0000590", "ICD10CM:H49.4", "ICD9:378.72", "MEDGEN:102439", "MESH:D017246", "NANDO:1200174", "Orphanet:520820", "SCTID:46252003", "UMLS:C0162674", "icd11.foundation:1698427219" ], "synonyms": [ "chronic progressive external ophthalmoplegia [ambiguous]", "progressive external ophthalmoplegia", "chronic progressive external ophthalmoplegia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" }, "child_count": 12, "reference_id": "MONDO:0005181" }, { "id": 7341, "label": "congenital nystagmus", "isLeaf": false, "isRoot": false, "parents": [ 4427, 6600, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9649", "EFO:0007217", "HP:0000639", "ICD10CM:H55.01", "ICD9:379.51", "MEDGEN:195995", "MESH:D020417", "OMIMPS:310700", "Orphanet:651", "SCTID:64635004", "UMLS:C0700501", "icd11.foundation:1626567380" ], "synonyms": [ "nystagmus", "congenital idiopathic nystagmus", "congenital pathologic nystagmus", "motor congenital nystagmus", "nystagmus, congenital" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)" }, "child_count": 30, "reference_id": "MONDO:0005712" }, { "id": 7343, "label": "congenital toxoplasmosis", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7581, 17014, 21534 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13336", "EFO:0007220", "GARD:0018708", "ICD10CM:P37.1", "ICD9:771.2", "MEDGEN:52799", "MESH:D014125", "MedDRA:10010652", "NANDO:2200892", "NCIT:C50503", "Orphanet:858", "SCTID:73893000", "UMLS:C0040560", "icd11.foundation:1194018225" ], "synonyms": [ "Toxoplasma embryofetopathy", "Toxoplasma embryopathy", "congenital toxoplasmosis", "mother-to-child transmission of toxoplasmosis", "toxoplasmosis, congenital" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Toxoplasma infection that is present from birth." }, "child_count": 0, "reference_id": "MONDO:0005715" }, { "id": 8756, "label": "congenital contractural arachnodactyly", "isLeaf": true, "isRoot": false, "parents": [ 4427, 10051, 17630, 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111595", "GARD:0005899", "ICD9:759.89", "MEDGEN:67391", "MESH:C536211", "NANDO:2201026", "NCIT:C129865", "NORD:844", "OMIM:121050", "Orphanet:115", "SCTID:205821003", "UMLS:C0220668", "icd11.foundation:1376425921" ], "synonyms": [ "Beals syndrome", "Beals-Hecht syndrome", "CCA", "CCA syndrome", "distal arthrogryposis type 9", "DA9", "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis", "arachnodactyly, contractural Beals type", "arthrogryposis, distal, type 9", "contractural arachnodactyly, congenital", "contractures, multiple with arachnodactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia." }, "child_count": 0, "reference_id": "MONDO:0007363" }, { "id": 8777, "label": "congenital trigeminal anesthesia", "isLeaf": true, "isRoot": false, "parents": [ 4427, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010034", "MEDGEN:342259", "MESH:C536440", "OMIM:122450", "Orphanet:231013", "SCTID:763218005", "UMLS:C1852541" ], "synonyms": [ "corneal hypesthesia, familial", "familial trigeminal anaesthesia", "familial trigeminal anesthesia", "trigeminal anesthesia, familial" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum)." }, "child_count": 0, "reference_id": "MONDO:0007384" }, { "id": 8991, "label": "familial congenital palsy of trochlear nerve", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16052, 24270, 24774 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010355", "MEDGEN:338185", "MESH:C565007", "OMIM:136480", "Orphanet:91498", "UMLS:C1850996" ], "synonyms": [ "hereditary fourth cranial nerve palsy", "fourth cranial nerve palsy, familial congenital", "strabismus from Superior oblique palsy", "superior oblique oculomotor palsy, familial congenital", "trochlear nerve palsy, familial congenital" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome." }, "child_count": 0, "reference_id": "MONDO:0007626" }, { "id": 9044, "label": "Myhre syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19473, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002572", "ICD9:759.89", "MEDGEN:167103", "MESH:C537620", "NCIT:C123815", "NORD:1481", "OMIM:139210", "Orphanet:2588", "SCTID:699316006", "UMLS:C0796081" ], "synonyms": [ "Myhre syndrome", "facial dysmorphism-intellectual disability-short stature-hearing loss syndrome", "Growth mental deficiency syndrome of Myhre", "Growth-mental deficiency syndrome of Myhre", "LAPS syndrome", "MYHRE syndrome", "MYHRS", "facial dysmorphism - intellectual deficit - short stature - hearing loss", "laryngotracheal stenosis, arthropathy, prognathism, and short stature" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." }, "child_count": 0, "reference_id": "MONDO:0007688" }, { "id": 9175, "label": "Aase-Smith syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16089, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005642", "MEDGEN:66316", "MESH:C535332", "MedDRA:10063429", "OMIM:147800", "Orphanet:916", "SCTID:718576001", "UMLS:C0220686" ], "synonyms": [ "Aase-Smith I syndrome", "Aase-Smith syndrome", "Aase-Smith syndrome type 1", "hydrocephalus-cleft palate-joint contractures syndrome", "Aase-Smith syndrome 1", "Aase-Smith syndrome I", "Joint contractures with Other abnormalities" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures." }, "child_count": 0, "reference_id": "MONDO:0007839" }, { "id": 9182, "label": "KBG syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14780", "GARD:0000082", "ICD9:759.89", "MEDGEN:66317", "MESH:C537015", "NORD:1322", "OMIM:148050", "Orphanet:2332", "SCTID:711156009", "UMLS:C0220687", "icd11.foundation:465550090" ], "synonyms": [ "KBG syndrome", "short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome", "KBGS", "macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies", "macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies", "short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies", "short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay." }, "child_count": 0, "reference_id": "MONDO:0007846" }, { "id": 9314, "label": "autosomal dominant primary microcephaly", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4427, 16088, 16689, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061100", "DOID:14725", "GARD:0003605", "MEDGEN:66319", "MESH:C537323", "OMIM:156580", "Orphanet:2514", "UMLS:C0220693", "icd11.foundation:774437947" ], "synonyms": [ "autosomal dominant primary microcephaly", "microcephaly (disease), autosomal dominant", "autosomal dominant microcephaly", "microcephaly autosomal dominant", "microcephaly with autosomal dominant inheritance", "microcephaly, autosomal dominant" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal dominant form of microcephaly (disease)." }, "child_count": 15, "reference_id": "MONDO:0007988" }, { "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": 9373, "label": "MYH7-related skeletal myopathy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16782, 18871, 19669 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070197", "GARD:0010769", "MEDGEN:1647391", "OMIM:160500", "Orphanet:59135", "SCTID:764859001", "UMLS:C4552004" ], "synonyms": [ "Laing distal myopathy", "MPD1", "MYH7-related skeletal myopathy", "distal myopathy type 1", "myopathy distal, type 1", "myopathy, distal, 1", "myopathy, distal, early-onset, autosomal dominant", "myopathy, distal, type 1", "myopathy, late distal hereditary", "myosin storage myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement." }, "child_count": 0, "reference_id": "MONDO:0008050" }, { "id": 9417, "label": "congenital stationary night blindness autosomal dominant 2", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16849 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110863", "GARD:0015096", "MEDGEN:361814", "MESH:C566869", "OMIM:163500", "UMLS:C1876182" ], "synonyms": [ "CSNBAD2", "PDE6B congenital stationary night blindness", "congenital stationary night blindness autosomal dominant type 2", "congenital stationary night blindness caused by mutation in PDE6B", "night blindness, congenital stationary, autosomal dominant type 2", "night blindness, congenital stationary, Rambusch type", "night blindness, congenital stationary, autosomal dominant 2" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene." }, "child_count": 0, "reference_id": "MONDO:0008099" }, { "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": 9706, "label": "congenital myopathy 7A, myosin storage, autosomal dominant", "isLeaf": true, "isRoot": false, "parents": [ 3107, 4427, 16782, 19669 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111269", "GARD:0015429", "ICD9:359.89", "MEDGEN:374868", "MESH:C564253", "OMIM:181430", "OMIM:608358", "Orphanet:437572", "Orphanet:636965", "UMLS:C1842160" ], "synonyms": [ "MSMA", "MYH7-related late-onset SPMD", "MYH7-related late-onset scapuloperoneal muscular dystrophy", "MYH7-related late-onset scapuloperoneal syndrome", "MYH7-related scapuloperoneal myopathy", "SPMD", "SPMM", "autosomal dominant myosin storage myopathy", "myopathy with lysis of type 1 myofibrils", "myopathy, hyaline body, autosomal dominant", "myopathy, myosin storage, autosomal dominant", "scapuloperoneal muscular dystrophy", "scapuloperoneal myopathy, MYH7-related", "scapuloperoneal syndrome, myopathic type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008409" }, { "id": 9727, "label": "Smith-Magenis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 3128, 4427, 16087, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:8", "DOID:0060768", "GARD:0008197", "ICD9:758.33", "MEDGEN:162881", "MESH:D058496", "NANDO:1200687", "NANDO:2200954", "NCIT:C75469", "NORD:1725", "OMIM:182290", "Orphanet:819", "SCTID:401315004", "UMLS:C0795864", "icd11.foundation:989025532" ], "synonyms": [ "17p11.2 microdeletion syndrome", "SMITH-Magenis syndrome", "SMS", "Smith Magenis Syndrome", "Smith-Magenis syndrome", "Smith-Magenis syndrome, Isolated cases", "chromosome 17P11.2 deletion syndrome", "chromosome 17p11.2 deletion syndrome", "Smith-Magenis chromosome region", "Smith-Magenis syndrome chromosome region" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." }, "child_count": 0, "reference_id": "MONDO:0008434" }, { "id": 9741, "label": "spina bifida", "isLeaf": false, "isRoot": false, "parents": [ 4427, 4611, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080016", "EFO:0003105", "HP:0002414", "ICD10CM:Q05", "ICD10WHO:Q05", "ICD9:741", "MEDGEN:38283", "MESH:D016135", "NCIT:C101214", "SCTID:67531005", "UMLS:C0080178", "icd11.foundation:2036217905" ], "synonyms": [ "rachischisis", "spina bifida", "spina bifida (disease)", "spinal meningocele", "spinal myelocele", "spinal myelomeningocele", "NTD", "neural tube defects, susceptibility to" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." }, "child_count": 6, "reference_id": "MONDO:0008449" }, { "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": 10201, "label": "isolated cerebellar hypoplasia/agenesis", "isLeaf": true, "isRoot": false, "parents": [ 4427, 20383, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070338", "GARD:0018720", "MEDGEN:1695950", "MESH:C562568", "MedDRA:10008033", "NCIT:C98890", "NORD:910", "OMIM:213000", "Orphanet:1398", "SCTID:16026008", "UMLS:C5231391" ], "synonyms": [ "Cerebellar Agenesis", "Chiari 4 malformation", "Chiari IV malformation", "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "congenital cerebellar Hypoplasia", "near total absence of cerebellum", "subtotal absence of cerebellum", "cerebellar hypoplasia", "isolated cerebellar agenesis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." }, "child_count": 0, "reference_id": "MONDO:0008939" }, { "id": 10221, "label": "Chediak-Higashi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16076, 16355, 17626, 17972, 19748, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2935", "GARD:0006035", "ICD10CM:E70.330", "MEDGEN:3347", "MESH:D002609", "MedDRA:10008415", "NANDO:1200350", "NANDO:1200639", "NANDO:2200724", "NCIT:C2941", "NORD:921", "OMIM:214500", "Orphanet:167", "SCTID:111396008", "UMLS:C0007965" ], "synonyms": [ "CHS", "ChC)diak-Higashi disease", "ChC)diak-Higashi-Steinbrink syndrome", "Chediak Higashi Syndrome", "Chediak Higashi syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi disease", "Chédiak-Higashi syndrome", "Chédiak-Higashi-Steinbrink syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." }, "child_count": 0, "reference_id": "MONDO:0008963" }, { "id": 10254, "label": "Cohen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16076, 16087, 24320 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111590", "GARD:0006126", "ICD9:759.89", "MEDGEN:78539", "MESH:C536438", "MedDRA:10049066", "NANDO:2200750", "NORD:986", "OMIM:216550", "Orphanet:193", "SCTID:56604005", "UMLS:C0265223", "icd11.foundation:1188737383" ], "synonyms": [ "Cohen syndrome", "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "COH1", "Chs1", "Chs1, formerly", "Coh", "hypotonia, obesity, and prominent incisors", "pepper syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." }, "child_count": 0, "reference_id": "MONDO:0008999" }, { "id": 10265, "label": "multiple pterygium-malignant hyperthermia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16094, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003361", "MEDGEN:347490", "MESH:C565679", "OMIM:217150", "Orphanet:2215", "UMLS:C1857576" ], "synonyms": [ "froster-Iskenius-Waterson-Hall syndrome", "malignant hyperthermia-arthrogryposis-torticollis syndrome", "contractures, congenital, torticollis, and malignant hyperthermia", "froster-Iskenius-Waterson syndrome", "malignant hyperthermia - arthrogryposis - torticollis", "malignant hyperthermia arthrogryposis torticollis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988." }, "child_count": 0, "reference_id": "MONDO:0009012" }, { "id": 10275, "label": "corpus callosum, agenesis of", "isLeaf": false, "isRoot": false, "parents": [ 4427, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027261", "MEDGEN:104498", "MESH:D061085", "NCIT:C98905", "OMIM:217990", "Orphanet:200", "SCTID:5102002", "UMLS:C0175754" ], "synonyms": [ "agenesis of corpus callosum", "corpus callosum agenesis", "corpus callosum, agenesis of", "ACC", "agenesis of the corpus callosum", "isolated corpus callosum agenesis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment." }, "child_count": 4, "reference_id": "MONDO:0009022" }, { "id": 10318, "label": "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 10936 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111180", "GARD:0008370", "MEDGEN:387801", "MESH:C537004", "OMIM:220111", "Orphanet:70472", "SCTID:718219002", "UMLS:C1857355" ], "synonyms": [ "COX deficiency, French-Canadian type", "Leigh syndrome, French-Canadian type", "Leigh syndrome, Saguenay-Lac-Saint-Jean type", "SLSJ-COX deficiency", "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type", "cytochrome C oxidase deficiency, French-Canadian type", "cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type", "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)", "Cox deficiency, French Canadian type", "Cox deficiency, Saguenay Lac saint Jean type", "Cox deficiency, Saguenay-Lac-Saint-Jean type", "LSFC", "Leigh syndrome, French Canadian type", "Leigh syndrome, Saguenay Lac saint Jean type", "cytochrome C oxidase deficiency, French Canadian type" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." }, "child_count": 0, "reference_id": "MONDO:0009069" }, { "id": 10323, "label": "facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002222", "MEDGEN:341752", "MESH:C535985", "OMIM:220219", "Orphanet:1970", "UMLS:C1857352" ], "synonyms": [ "Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY", "Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009074" }, { "id": 10353, "label": "diastematomyelia", "isLeaf": true, "isRoot": false, "parents": [ 4427, 18236 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001851", "ICD10CM:Q06.2", "ICD9:742.51", "MEDGEN:3801", "MedDRA:10012750", "NCIT:C98913", "OMIM:222500", "Orphanet:1671", "SCTID:49351009", "UMLS:C0011999", "icd11.foundation:2070601288" ], "synonyms": [ "SCM type 1", "diastematomyelia", "split cord malformation type 1", "Dimyelia", "Pseudodiplomyelia", "SSCM", "diplomyelia", "split cord malformation", "split spinal cord malformation" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida." }, "child_count": 0, "reference_id": "MONDO:0009106" }, { "id": 10399, "label": "EEM syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 18362, 18956, 19138, 19765 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111649", "GARD:0002078", "MEDGEN:341679", "MESH:C536190", "OMIM:225280", "Orphanet:1897", "SCTID:720856002", "UMLS:C1857041" ], "synonyms": [ "EEM syndrome", "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome", "EEMS", "ectodermal dysplasia, ectrodactyly, and macular dystrophy", "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "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" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)." }, "child_count": 0, "reference_id": "MONDO:0009155" }, { "id": 10573, "label": "Mowat-Wilson syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 16437, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060485", "GARD:0009673", "ICD9:759.89", "MEDGEN:341067", "MESH:C536990", "NANDO:1200663", "NANDO:2200981", "NCIT:C74999", "NORD:1456", "OMIM:235730", "Orphanet:2152", "SCTID:703535000", "UMLS:C1856113", "icd11.foundation:1985672762" ], "synonyms": [ "Hirschsprung disease intellectual disability syndrome", "Hirschsprung disease-intellectual disability syndrome", "Mowat-Wilson syndrome", "microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease", "Hirschsprung disease-mental retardation syndrome", "MOWS", "intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease", "mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease", "microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease", "microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations." }, "child_count": 8, "reference_id": "MONDO:0009341" }, { "id": 10705, "label": "Johanson-Blizzard syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7048, 7611, 16087, 22991, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14694", "GARD:0000080", "ICD9:759.89", "MEDGEN:59798", "MESH:C535880", "MESH:C564907", "NORD:1311", "OMIM:243800", "OMIM:260450", "Orphanet:2315", "SCTID:75979009", "UMLS:C0175692", "icd11.foundation:1427330812" ], "synonyms": [ "JBS", "Johanson-Blizzard syndrome", "pancreatic insufficiency, combined exocrine", "Johanson-BLIZZARD syndrome", "nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness", "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness" ], "categories": [ { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0009479" }, { "id": 10805, "label": "intellectual disability, Buenos-Aires type", "isLeaf": true, "isRoot": false, "parents": [ 2961, 4427, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003485", "MEDGEN:167102", "MESH:C563095", "OMIM:249630", "Orphanet:3079", "SCTID:725906006", "UMLS:C0796080" ], "synonyms": [ "Mutchinick syndrome", "intellectual deficit Buenos-Aires type", "intellectual disability Buenos Aires type", "intellectual disability, Buenos Aires type", "mental retardation Buenos Aires type", "mental retardation, Buenos Aires type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe." }, "child_count": 0, "reference_id": "MONDO:0009584" }, { "id": 10901, "label": "myasthenia, congenital, refractory to acetylcholinesterase inhibitors", "isLeaf": true, "isRoot": false, "parents": [ 4427, 18862 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024687", "MEDGEN:338127", "MESH:C564979", "OMIM:254190", "UMLS:C1850806" ], "synonyms": [ "myasthenia, congenital, refractory to acetylcholinesterase inhibitors" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009687" }, { "id": 10903, "label": "congenital myasthenic syndrome 6", "isLeaf": true, "isRoot": false, "parents": [ 4427, 24775 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110671", "GARD:0009689", "ICD9:358.00", "MEDGEN:140751", "MESH:C535759", "NANDO:1201057", "NCIT:C132292", "OMIM:254210", "SCTID:230670003", "UMLS:C0393929" ], "synonyms": [ "CHAT congenital myasthenic syndrome", "CMS6", "CMSEA", "FIM", "congenital myasthenic syndrome 6", "congenital myasthenic syndrome caused by mutation in CHAT", "congenital myasthenic syndrome type 6", "presynaptic congenital myasthenic syndrome 6", "CMS Ia2, formerly", "CMS w/episodic apnea", "CMS-ea", "CMS1A", "CMS1A2, formerly", "Cms Ia2", "Cms Ia2, formerly", "FIM, formerly", "FIMG2 (formerly)", "FIMG2, formerly", "congenital myasthenic syndrome type 1a", "congenital myasthenic syndrome type Ia", "congenital myasthenic syndrome type Ia2, formerly", "congenital myasthenic syndrome with episodic apnea", "myasthenia familial infantile", "myasthenia gravis familial infantile 2 (formerly)", "myasthenia gravis, familial infantile, 2", "myasthenia gravis, familial infantile, 2, formerly", "myasthenia, familial infantile", "myasthenia, familial infantile, formerly", "myasthenic syndrome congenital associated with episodic apnea", "myasthenic syndrome, congenital, 6, presynaptic", "myasthenic syndrome, congenital, associated with episodic apnea", "myasthenic syndrome, presynaptic, congenital, associated with episodic apnea" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner." }, "child_count": 0, "reference_id": "MONDO:0009689" }, { "id": 10935, "label": "Bailey-Bloch congenital myopathy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 19669, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060346", "GARD:0008432", "MEDGEN:340586", "MESH:C538343", "OMIM:255995", "Orphanet:168572", "SCTID:723439002", "UMLS:C1850625" ], "synonyms": [ "Bailey-Bloch congenital myopathy", "Native American myopathy", "STAC3 disorder", "congenital myopathy-cleft palate-malignant hyperthermia syndrome", "myopathy, congenital, baily-bloch", "NAM", "congenital myopathy - cleft palate - malignant hyperthermia", "congenital myopathy cleft palate and malignant hyperthermia", "myopathy, congenital, with cleft palate and malignant hyperthermia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." }, "child_count": 0, "reference_id": "MONDO:0009722" }, { "id": 10968, "label": "congenital stationary night blindness 1B", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16849, 24986 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110865", "GARD:0015212", "MEDGEN:342484", "OMIM:257270", "UMLS:C1850362" ], "synonyms": [ "CSNB1B", "GRM6 congenital stationary night blindness", "congenital stationary night blindness 1B", "congenital stationary night blindness caused by mutation in GRM6", "congenital stationary night blindness type 1B", "night blindness, congenital stationary (complete), 1B, autosomal recessive", "CSNB, complete, autosomal recessive", "night blindness, congenital stationary, complete, autosomal recessive", "night blindness, congenital stationary, type 1B" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene." }, "child_count": 0, "reference_id": "MONDO:0009758" }, { "id": 11153, "label": "radioulnar synostosis-developmental delay-hypotonia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 6982, 16087, 18161, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001810", "MEDGEN:341460", "MESH:C538217", "MESH:C564856", "OMIM:266255", "Orphanet:3270", "SCTID:721883006", "UMLS:C1849470" ], "synonyms": [ "Der Kaloustian-McIntosh-Silver syndrome", "radioulnar synostosis with developmental delay and hypotonia syndrome", "der Kaloustian mcintosh silver syndrome", "radioulnar synostosis, unilateral, with developintellectual disability and hypotonia", "radioulnar synostosis, unilateral, with developmental retardation and hypotonia", "unilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearance", "unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance", "unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance", "unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears)." }, "child_count": 0, "reference_id": "MONDO:0009952" }, { "id": 11204, "label": "Schinzel-Giedion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16088, 19138, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070509", "GARD:0000117", "ICD9:759.89", "MEDGEN:120517", "MESH:C536632", "MedDRA:10063540", "NCIT:C129308", "NORD:1694", "OMIM:269150", "Orphanet:798", "SCTID:18899000", "UMLS:C0265227", "icd11.foundation:1542318431" ], "synonyms": [ "SGS", "Schinzel Giedion Syndrome", "Schinzel-Giedion midface-retraction syndrome", "Schinzel-Giedion syndrome", "Schinzel Giedion midface-retraction syndrome", "Schinzel Giedion syndrome", "Schinzel-Giedion midface retraction syndrome", "Sgs" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." }, "child_count": 0, "reference_id": "MONDO:0010010" }, { "id": 11205, "label": "schizencephaly", "isLeaf": false, "isRoot": false, "parents": [ 4427, 17479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000166", "ICD9:742.4", "MEDGEN:78606", "MESH:D065707", "NANDO:1201073", "NANDO:2200818", "NCIT:C99056", "OMIM:269160", "Orphanet:799", "SCTID:253159001", "UMLS:C0266484", "icd11.foundation:1693546163" ], "synonyms": [ "schizencephaly" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." }, "child_count": 4, "reference_id": "MONDO:0010011" }, { "id": 11383, "label": "intellectual disability, Wolff type", "isLeaf": true, "isRoot": false, "parents": [ 2961, 4427, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003530", "MEDGEN:336345", "MESH:C537448", "OMIM:277990", "Orphanet:3080", "UMLS:C1848439" ], "synonyms": [ "Wolff-Zimmermann syndrome", "WOLFF intellectual disability syndrome", "WOLFF mental retardation syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias." }, "child_count": 0, "reference_id": "MONDO:0010203" }, { "id": 11414, "label": "X-linked intellectual disability-plagiocephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16201, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002765", "MEDGEN:419824", "MESH:C537512", "OMIM:300064", "Orphanet:2898", "SCTID:719812008", "UMLS:C2931516" ], "synonyms": [ "Hyde Forster-McCarthy-Berry syndrome", "Hyde Forster McCarthy Berry syndrome", "intellectual disability, X-linked Hyde-Forster type", "intellectual disability, X-linked, Hyde-Forster type", "intellectual disability, X-linked, with craniofacial dysmorphism", "intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features", "mental retardation, X-linked Hyde-Forster type", "mental retardation, X-linked, Hyde-Forster type", "mental retardation, X-linked, with craniofacial dysmorphism", "mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features", "plagiocephaly and X-linked intellectual disability", "plagiocephaly and X-linked mental retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0010237" }, { "id": 11438, "label": "X-linked adrenal hypoplasia congenita", "isLeaf": false, "isRoot": false, "parents": [ 2902, 4427, 16074, 16526, 16815 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080156", "GARD:0000555", "MEDGEN:87442", "NANDO:1200403", "NANDO:2200357", "NCIT:C123725", "OMIM:300200", "Orphanet:95702", "SCTID:93235007", "UMLS:C0342482" ], "synonyms": [ "AHC", "adrenal hypoplasia congenita", "X-linked adrenal hypoplasia congenita", "X-linked congenital adrenal hypoplasia", "adrenal hypoplasia, congenital, X-linked recessive", "AHC with HHG", "AHC with isolated gonadotropin deficiency", "Addison disease, X-linked", "X-linked AHC", "adrenal hypoplasia, congenital", "adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism", "adrenal hypoplasia, congenital, with precocious puberty", "adrenal insufficiency, progressive, and hypogonadotropic hypogonadism", "cytomegalic adrenocortical hypoplasia", "cytomegalic congenital adrenal hypoplasia", "mineralocorticoid deficiency, isolated" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism." }, "child_count": 5, "reference_id": "MONDO:0010264" }, { "id": 11444, "label": "syndromic X-linked intellectual disability 7", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060808", "GARD:0009156", "MEDGEN:337403", "MESH:C537449", "OMIM:300218", "Orphanet:85274", "SCTID:719160009", "UMLS:C1846170" ], "synonyms": [ "MRXS7", "X-linked intellectual disability, Ahmad type", "intellectual disability, X-linked syndromic 7", "syndromic X-linked intellectual disability type 7", "Ahmad X-linked intellectual disability syndrome", "Ahmad X-linked mental retardation syndrome", "intellectual disability X-linked syndromic 7", "intellectual disability, X-linked, syndromic 7", "intellectual disability, obesity, hypogonadism, and tapering fingers", "mental retardation X-linked syndromic 7", "mental retardation, X-linked, syndromic 7", "mental retardation, obesity, hypogonadism, and tapering fingers" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers." }, "child_count": 0, "reference_id": "MONDO:0010270" }, { "id": 11450, "label": "syndromic X-linked intellectual disability Shashi type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060826", "GARD:0004119", "MEDGEN:335348", "MESH:C537135", "OMIM:300238", "Orphanet:85286", "SCTID:718900002", "UMLS:C1846145" ], "synonyms": [ "MRXS11", "SMRXS", "Shashi X-linked intellectual disability syndrome", "Shashi X-linked mental retardation syndrome", "X-linked intellectual disability Shashi type", "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive", "intellectual disability, X-linked, syndromic 11, Shashi type", "syndromic X-linked intellectual disability type 11", "X-linked intellectual disability, Shashi type", "intellectual disability X-linked Shashi type", "intellectual disability X-linked syndromic 11", "intellectual disability, X-linked, Shashi type", "intellectual disability, X-linked, syndromic 11", "mental retardation X-linked Shashi type", "mental retardation X-linked syndromic 11", "mental retardation, X-linked, Shashi type", "mental retardation, X-linked, syndromic 11" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0010277" }, { "id": 11456, "label": "syndromic X-linked intellectual disability Lubs type", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 17413, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:45", "DOID:0060799", "GARD:0009781", "ICD9:758.89", "MEDGEN:337496", "MESH:C537723", "NANDO:2200984", "NCIT:C126747", "OMIM:300260", "Orphanet:1762", "SCTID:702816000", "UMLS:C1846058" ], "synonyms": [ "Lubs X-linked intellectual disability syndrome", "Lubs X-linked mental retardation syndrome", "MECP2 duplication syndrome", "MRXSL", "Xq28 (MECP2) duplication", "distal duplication Xq", "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive", "intellectual disability, X-linked, syndromic, Lubs type", "intellectual disability, X-linked, with recurrent respiratory infections", "mental retardation, X-linked, with recurrent respiratory infections", "syndromic X-linked intellectual disability Lubs type", "telomeric duplication Xq", "Lubs X-linked intellectual disability syndrome (formerly)", "Lubs X-linked mental retardation syndrome (formerly)", "MECP2 Duplication syndrome", "XLMR syndrome, Lubs type", "intellectual disability, X-linked, Lubs type (formerly)", "mental retardation, X-linked, Lubs type (formerly)", "trisomy Xq28" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." }, "child_count": 4, "reference_id": "MONDO:0010283" }, { "id": 11458, "label": "syndromic X-linked intellectual disability Abidi type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060818", "GARD:0009157", "MEDGEN:337376", "MESH:C535556", "OMIM:300262", "Orphanet:85273", "UMLS:C1846056" ], "synonyms": [ "MRXSAB", "intellectual disability, X-linked syndromic, Abidi type", "ABIDI X-linked intellectual disability syndrome", "ABIDI X-linked mental retardation syndrome", "X-linked intellectual disability, Abidi type", "intellectual disability X-linked Abidi type", "intellectual disability, X-linked, syndromic, Abidi type", "mental retardation, X-linked, syndromic, Abidi type", "short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations." }, "child_count": 0, "reference_id": "MONDO:0010285" }, { "id": 11459, "label": "syndromic X-linked intellectual disability Siderius type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060812", "GARD:0009704", "MEDGEN:337375", "MESH:C537333", "OMIM:300263", "Orphanet:85287", "UMLS:C1846055" ], "synonyms": [ "MRXSSD", "Siderius X-linked intellectual disability syndrome", "Siderius X-linked mental retardation syndrome", "Siderius-Hamel syndrome", "intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive", "intellectual disability syndrome, X-linked, Siderius type", "syndromic X-linked intellectual disability Siderius type", "Siderius Hamel syndrome", "X-linked intellectual disability Hamel type", "X-linked intellectual disability, Siderius type", "X-linked mental retardation Hamel type", "intellectual deficit X-linked Siderius type", "intellectual disability X-linked Siderius type", "intellectual disability, X-linked, syndromic, Siderius type", "mental retardation X-linked Siderius type", "mental retardation, X-linked, syndromic, Siderius type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010286" }, { "id": 11476, "label": "X-linked intellectual disability, Cabezas type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060822", "GARD:0013244", "MEDGEN:337334", "OMIM:300354", "Orphanet:85293", "SCTID:719811001", "UMLS:C1845861" ], "synonyms": [ "Cabezas syndrome", "Cabezas syndrome; syndromic X-linked intellectual disability 15", "MRSS", "MRXS15", "MRXSC", "X-linked intellectual disability with short stature", "X-linked intellectual disability with short stature, hypogonadism, and abnormal gait", "X-linked intellectual disability, Cabezas type", "intellectual disability, X-linked, syndromic 15 (Cabezas type)", "intellectual disability, X-linked, with short stature", "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive", "mental retardation, X-linked, with short stature", "syndromic X-linked intellectual disability Cabezas type", "Cabezas type of X-linked syndromic intellectual disability", "Cul4B-related X-linked intellectual disability", "intellectual disability, X-linked, syndromic 15", "intellectual disability, X-linked, syndromic, Cabezas type", "intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait", "mental retardation, X-linked, syndromic 15", "mental retardation, X-linked, syndromic, Cabezas type", "mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0010306" }, { "id": 11501, "label": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016745", "MEDGEN:1801270", "MESH:C564510", "OMIM:300471", "Orphanet:85280", "UMLS:C5677056" ], "synonyms": [ "Cubitus valgus with mental retardation and unusual facies, X-linked recessive", "cubitus valgus with intellectual disability and unusual facies", "cubitus valgus with mental retardation and unusual facies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive." }, "child_count": 0, "reference_id": "MONDO:0010332" }, { "id": 11522, "label": "syndromic X-linked intellectual disability Claes-Jensen type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060809", "GARD:0016744", "MEDGEN:335139", "MESH:C564494", "OMIM:300534", "Orphanet:85279", "SCTID:719161008", "UMLS:C1845243" ], "synonyms": [ "MRXSCJ", "MRXSJ", "intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive", "intellectual disability, X-linked, syndromic, Claes-Jensen type", "mental retardation, X-linked, syndromic, Claes-Jensen type", "syndromic X-linked intellectual disability Claes-Jensen type", "syndromic X-linked intellectual disability JARID1C-related", "intellectual disability, X-linked, syndromic, JARID1C-related", "mental retardation, X-linked, syndromic, JARID1C-related" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010355" }, { "id": 11607, "label": "moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16088, 17246 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017301", "MEDGEN:463207", "OMIM:300845", "Orphanet:280679", "UMLS:C3151857", "icd11.foundation:673174743" ], "synonyms": [ "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism", "moyamoya disease 4, X-linked recessive", "MYMY4", "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism", "chromosome Xq28 deletion syndrome, 3.4-Kb", "syndromic Moyamoya disease" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0010448" }, { "id": 11625, "label": "multiple congenital anomalies-hypotonia-seizures syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16198, 16607, 17977, 23814, 23985 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080139", "GARD:0012777", "MEDGEN:477139", "OMIM:300868", "Orphanet:300496", "UMLS:C3275508" ], "synonyms": [ "DEE20", "GPIBD4", "MCAHS type 2", "MCAHS2", "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "developmental and epileptic encephalopathy 20", "epileptic encephalopathy, early infantile, 20", "glycosylphosphatidylinositol biosynthesis defect 4", "multiple congenital anomalies-hypotonia-seizures syndrome 2", "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive", "multiple congenital anomalies-hypotonia-seizures syndrome type 2", "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene." }, "child_count": 0, "reference_id": "MONDO:0010466" }, { "id": 11630, "label": "developmental and epileptic encephalopathy, 36", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7156, 17973, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080470", "GARD:0012401", "MEDGEN:1382656", "OMIM:300884", "Orphanet:324422", "SCTID:733451007", "UMLS:C4317295" ], "synonyms": [ "ALG13-CDG", "CDG syndrome type Is", "CDG-Is", "CDG1S", "DEE36", "EIEE36", "congenital disorder of glycosylation type 1s", "congenital disorder of glycosylation type Is", "developmental and epileptic encephalopathy 36", "epileptic encephalopathy, early infantile, 36", "CDG Is", "congenital disorder of glycosylation, type Is" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010472" }, { "id": 11635, "label": "blepharophimosis - intellectual disability syndrome, MKB type", "isLeaf": true, "isRoot": false, "parents": [ 3111, 4427, 23760 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017341", "ICD9:759.89", "MEDGEN:785805", "OMIM:300895", "Orphanet:293707", "SCTID:699297004", "UMLS:C3698541" ], "synonyms": [ "BMRS, MKB type", "BMRS, Maat-Kievit-Brunner type", "Ohdo syndrome, X-linked, X-linked recessive", "X-linked Ohdo syndrome", "blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type", "OHDOX", "Ohdo syndrome, X-linked", "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males." }, "child_count": 0, "reference_id": "MONDO:0010477" }, { "id": 11654, "label": "X-linked intellectual disability-short stature-overweight syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112056", "GARD:0017800", "MEDGEN:901885", "OMIM:300957", "Orphanet:457240", "UMLS:C0796218" ], "synonyms": [ "intellectual developmental disorder, X-linked 12, X-linked recessive", "intellectual disability, X-linked type 12", "mental retardation, X-linked type 12", "MRX12", "intellectual disability, X-linked 12", "intellectual disability, X-linked 35", "mental retardation, X-linked 12", "mental retardation, X-linked 35" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted." }, "child_count": 0, "reference_id": "MONDO:0010496" }, { "id": 11658, "label": "intellectual disability, X-linked, syndromic 33", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024731", "MEDGEN:895979", "OMIM:300966", "Orphanet:480907", "UMLS:C4225418" ], "synonyms": [ "MRXS33", "TAF1 X-linked syndromic intellectual disability", "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome", "X-linked syndromic intellectual disability caused by mutation in TAF1", "intellectual developmental disorder, X-linked syndromic 33, X-linked recessive", "intellectual disability, X-linked, syndromic type 33", "mental retardation, X-linked, syndromic 33", "mental retardation, X-linked, syndromic type 33" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene." }, "child_count": 0, "reference_id": "MONDO:0010500" }, { "id": 11659, "label": "syndromic X-linked intellectual disability 34", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060817", "GARD:0017832", "MEDGEN:902184", "OMIM:300967", "Orphanet:466791", "UMLS:C4225417" ], "synonyms": [ "MRXS34", "MRXSML", "NONO X-linked syndromic intellectual disability", "X-linked syndromic intellectual disability caused by mutation in NONO", "intellectual developmental disorder, X-linked syndromic 34", "intellectual disability, X-linked, syndromic 34", "intellectual disability, X-linked, syndromic type 34", "macrocephaly-intellectual disability-left ventricular non compaction syndrome", "mental retardation, X-linked, syndromic 34", "mental retardation, X-linked, syndromic type 34", "syndromic X-linked intellectual disability Mircsof-Langouet type", "syndromic X-linked intellectual disability type 34", "intellectual disability, X-linked, syndromic, Mircsof-Langouet type", "mental retardation, X-linked, syndromic, Mircsof-Langouet type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported." }, "child_count": 0, "reference_id": "MONDO:0010501" }, { "id": 11687, "label": "infantile-onset X-linked spinal muscular atrophy", "isLeaf": true, "isRoot": false, "parents": [ 3724, 4427, 16094 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111827", "GARD:0008521", "MEDGEN:337123", "MESH:C535380", "OMIM:301830", "Orphanet:1145", "SCTID:719836007", "UMLS:C1844934" ], "synonyms": [ "SMAX2", "X-linked distal arthrogryposis multiplex congenita", "X-linked spinal muscular atrophy type 2", "spinal muscular atrophy with arthrogryposis", "spinal muscular atrophy, X-linked 2, infantile, X-linked recessive", "spinal muscular atrophy, X-linked type 2", "AMC, distal, X-linked", "arthrogryposis multiplex congenita, distal, X-linked", "arthrogryposis, X-linked, type 1", "spinal muscular atrophy, X-linked 2", "spinal muscular atrophy, X-linked lethal infantile", "spinal muscular atrophy, infantile X-linked" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." }, "child_count": 0, "reference_id": "MONDO:0010532" }, { "id": 11728, "label": "syndromic X-linked intellectual disability 5", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19709, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060800", "GARD:0008520", "MEDGEN:162924", "NCIT:C124839", "OMIM:304340", "Orphanet:1568", "Orphanet:85329", "SCTID:719139003", "UMLS:C0796254" ], "synonyms": [ "MRX59", "MRXS21", "Pettigrew syndrome", "Pettigrew syndrome, X-linked recessive", "X-linked intellectual disability 59", "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome", "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome", "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome", "intellectual disability, X-linked syndromic 5", "syndromic X-linked intellectual disability 21", "syndromic X-linked intellectual disability fried type", "syndromic X-linked intellectual disability type 5", "Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures", "MRXS5", "PETTIGREW syndrome", "PGS", "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures", "fried syndrome", "intellectual disability X-linked syndromic 5", "intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures", "intellectual disability, X-linked 59", "intellectual disability, X-linked, syndromic 21", "intellectual disability, X-linked, syndromic 5", "intellectual disability, X-linked, syndromic, fried type", "intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures", "mental retardation X-linked syndromic 5", "mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures", "mental retardation, X-linked 59", "mental retardation, X-linked, syndromic 21", "mental retardation, X-linked, syndromic 5", "mental retardation, X-linked, syndromic, fried type", "mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition." }, "child_count": 0, "reference_id": "MONDO:0010574" }, { "id": 11758, "label": "holoprosencephaly-hypokinesia-congenital contractures syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003788", "MEDGEN:336097", "MESH:C564409", "OMIM:306990", "Orphanet:2570", "SCTID:716169009", "UMLS:C1844016" ], "synonyms": [ "Morse-Rawnsley-Sargent syndrome", "holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome", "holoprosencephaly with fetal akinesia/hypokinesia sequence", "holoprosencephaly with foetal akinesia/hypokinesia sequence" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0010610" }, { "id": 11801, "label": "X-linked intellectual disability with marfanoid habitus", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 23760 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080985", "GARD:0003307", "MEDGEN:167096", "MESH:C537724", "OMIM:309520", "Orphanet:776", "SCTID:422437002", "UMLS:C0796022" ], "synonyms": [ "Lujan syndrome", "Lujan-Fryns syndrome", "Lujan-Fryns syndrome, X-linked recessive", "LUJAN-Fryns syndrome", "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies", "intellectual disability, X-linked, with Marfanoid habitus", "mental retardation, X-linked, with Marfanoid habitus" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." }, "child_count": 0, "reference_id": "MONDO:0010655" }, { "id": 11898, "label": "Wieacker-Wolff syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 21691, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060815", "GARD:0007890", "MEDGEN:163227", "MESH:C536703", "MESH:C537472", "NORD:91159", "OMIM:314580", "Orphanet:3454", "Orphanet:85283", "SCTID:719012009", "SCTID:722456001", "UMLS:C0796200" ], "synonyms": [ "MCS", "MRXS4", "Miles-CARPENTER X-linked mental retardation syndrome", "Miles-Carpenter syndrome", "WRWF", "WRWFXLR", "Wieacker Wolff syndrome", "Wieacker syndrome", "Wieacker-Wolff syndrome", "Wieacker-Wolff syndrome, X-linked", "Wieacker-Wolff syndrome, X-linked recessive", "X-linked intellectual disability, Miles-Carpenter type", "ZC4H2-Associated Rare Disorders (ZARD)", "apraxia, oculomotor, with congenital contractures and muscle atrophy", "contractures of feet, muscle atrophy, and oculomotor apraxia", "foot contractures-muscle atrophy-oculomotor apraxia syndrome", "intellectual disability-developmental delay-contractures syndrome", "mental retardation, X-linked, syndromic 4", "mental retardation, X-linked, with congenital contractures and Low fingertip arches", "mental retardation, X-linked, with congenital contractures and low fingertip arches" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0010758" }, { "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": 11993, "label": "macrocephaly-spastic paraplegia-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 18959 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016598", "MEDGEN:373933", "MESH:C563963", "OMIM:600302", "Orphanet:2429", "SCTID:716108004", "UMLS:C1838281" ], "synonyms": [ "Fryns macrocephaly", "macrocephaly with spastic paraplegia and distinctive craniofacial appearance" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0010858" }, { "id": 12179, "label": "intellectual disability-sparse hair-brachydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323, 24515 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081441", "GARD:0000270", "MEDGEN:220983", "MESH:C536116", "OMIM:601358", "Orphanet:3051", "SCTID:401046009", "UMLS:C1303073" ], "synonyms": [ "Nicolaides-Baraitser syndrome", "SMARCA2-related BAFopathy", "intellectual disability-sparse hair-brachydactyly syndrome", "NBs", "NCBRS", "NICOLAIDES-Baraitser syndrome", "sparse hair and intellectual disability", "sparse hair and mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now." }, "child_count": 0, "reference_id": "MONDO:0011053" }, { "id": 12202, "label": "myofibrillar myopathy 1", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16774, 16878, 18865, 24271 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080092", "DOID:0110286", "GARD:0016870", "MEDGEN:330449", "OMIM:601419", "OMIM:615325", "Orphanet:363543", "Orphanet:98909", "UMLS:C1832370" ], "synonyms": [ "DES autosomal recessive limb-girdle muscular dystrophy", "DES myofibrillar myopathy (disease)", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES", "autosomal recessive limb-girdle muscular dystrophy type 2R", "desmin-related myofibrillar myopathy", "desminopathy", "myofibrillar myopathy (disease) caused by mutation in DES", "myofibrillar myopathy 1", "myofibrillar myopathy type 1", "myopathy, myofibrillar, type 1", "CMD1F and LGMD1D", "CMD1F and LGMD1D, formerly", "IBM1", "MFM1", "arrhythmogenic right ventricular cardiomyopathy 7", "arrhythmogenic right ventricular cardiomyopathy 7, formerly", "arrhythmogenic right ventricular dysplasia, familial, 7", "arrhythmogenic right ventricular dysplasia, familial, 7, formerly", "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D", "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly", "cardiomyopathy, dilated, with conduction defect and muscular dystrophy", "desmin-related myopathy", "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy", "desminopathy, primary", "inclusion body myopathy 1, autosomal dominant", "inclusion body myopathy 1, autosomal dominant, formerly", "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy", "myopathy, myofibrillar, 1", "myopathy, myofibrillar, desmin-related" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." }, "child_count": 0, "reference_id": "MONDO:0011076" }, { "id": 12216, "label": "isolated hereditary congenital facial paralysis", "isLeaf": false, "isRoot": false, "parents": [ 4427, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008583", "MEDGEN:1381843", "MESH:C563309", "OMIMPS:601471", "Orphanet:306527", "SCTID:733091002", "UMLS:C4518577" ], "synonyms": [ "HCFP", "MBS2 (formerly)", "Mobius syndrome 2 (formerly)", "Moebius syndrome 2 (formerly)", "facial palsy, congenital, unilateral or bilateral", "facial paresis hereditary congenital", "facial paresis, hereditary congenital", "hereditary congenital facial paresis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal." }, "child_count": 2, "reference_id": "MONDO:0011090" }, { "id": 12303, "label": "fibrosis of extraocular muscles, congenital, 2", "isLeaf": true, "isRoot": false, "parents": [ 4427, 8980 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081016", "GARD:0015341", "MEDGEN:356119", "MESH:C566587", "OMIM:602078", "UMLS:C1865915" ], "synonyms": [ "PHOX2A congenital fibrosis of extraocular muscles", "congenital fibrosis of extraocular muscles caused by mutation in PHOX2A", "fibrosis of extraocular muscles, congenital, 2", "fibrosis of extraocular muscles, congenital, type 2", "CFEOM2", "Feom2 locus", "fibrosis of extraocular muscles, congenital, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene." }, "child_count": 0, "reference_id": "MONDO:0011181" }, { "id": 12334, "label": "Pierpont syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19144, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081362", "GARD:0017885", "MEDGEN:356049", "MESH:C566559", "OMIM:602342", "Orphanet:487825", "UMLS:C1865644" ], "synonyms": [ "Pierpont syndrome", "plantar lipomatosis-facial dysmorphism-developmental delay syndrome", "plantar lipomatosis-unusual facies-developmental delay syndrome", "PIERPONT syndrome", "PRPTS", "plantar lipomatosis, unusual facies, and developmental delay" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear." }, "child_count": 0, "reference_id": "MONDO:0011213" }, { "id": 12507, "label": "congenital cataracts-facial dysmorphism-neuropathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 17364, 19713 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016645", "ICD9:759.89", "MEDGEN:346973", "MESH:C565822", "OMIM:604168", "Orphanet:48431", "SCTID:702433001", "UMLS:C1858726" ], "synonyms": [ "CCFDN", "congenital cataracts-facial dysmorphism-neuropathy syndrome", "cataract, congenital, with Facial Dysmorphism and neuropathy", "congenital cataracts, facial dysmorphism, and neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance." }, "child_count": 0, "reference_id": "MONDO:0011402" }, { "id": 12610, "label": "Bohring-Opitz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010140", "MEDGEN:208678", "MESH:C537419", "NCIT:C131533", "NORD:1981", "OMIM:605039", "Orphanet:97297", "SCTID:720565000", "UMLS:C0796232" ], "synonyms": [ "Bohring syndrome", "Bohring-Opitz syndrome", "Bos syndrome", "C-like syndrome", "Oberklaid-Danks syndrome", "Opitz trigonocephaly-like syndrome", "BOHRING-Opitz syndrome", "BOPS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported." }, "child_count": 0, "reference_id": "MONDO:0011510" }, { "id": 12766, "label": "PHACE syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 6967, 16088, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008338", "MEDGEN:376231", "MedDRA:10068032", "NORD:1927", "OMIM:606519", "Orphanet:42775", "UMLS:C1847874", "icd11.foundation:1825849023" ], "synonyms": [ "pascual-Castroviejo syndrome type 2", "P-CIIS", "PHACE association", "Phaces association", "Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities", "aortic aneurysm, giant congenital", "pascual-Castroviejo type II syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery." }, "child_count": 0, "reference_id": "MONDO:0011676" }, { "id": 12856, "label": "B4GALT1-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7157, 16198, 17978, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070256", "GARD:0009841", "MEDGEN:419310", "MESH:C535753", "OMIM:607091", "Orphanet:79332", "SCTID:725587007", "UMLS:C2931009" ], "synonyms": [ "B4GALT1-CDG", "B4GALT1-congenital disorder of glycosylation", "Beta-1,4-galactosyltransferase deficiency", "CDG syndrome type IId", "CDG-IId", "CDG2D", "carbohydrate deficient glycoprotein syndrome type IId", "congenital disorder of glycosylation type 2d", "congenital disorder of glycosylation type IId", "B4GALT1-CDG (CDG-IId)", "CDG 2D", "CDG IId", "congenital disorder of glycosylation, type IId" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase." }, "child_count": 0, "reference_id": "MONDO:0011772" }, { "id": 12904, "label": "developmental malformations-deafness-dystonia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16089, 23452 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009818", "MEDGEN:1848671", "MESH:C537704", "OMIM:607371", "Orphanet:79107", "UMLS:C5848323" ], "synonyms": [ "DJO", "dystonia, juvenile-onset", "juvenile-onset dystonia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome." }, "child_count": 0, "reference_id": "MONDO:0011823" }, { "id": 12916, "label": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "isLeaf": false, "isRoot": false, "parents": [ 4427, 10856, 17232, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111276", "GARD:0009998", "MEDGEN:375302", "OMIM:607459", "OMIM:613832", "Orphanet:402082", "Orphanet:70595", "UMLS:C1843851" ], "synonyms": [ "EPM5", "PME type 5", "PRICKLE2 progressive myoclonic epilepsy", "SANDO", "epilepsy, progressive myoclonic, type 5", "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)", "progressive myoclonic epilepsy caused by mutation in PRICKLE2", "progressive myoclonus epilepsy type 5", "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "epilepsy, progressive myoclonic, 5", "epilepsy, progressive myoclonic, 5, formerly", "epilepsy, progressive myoclonic, with sensory ataxic neuropathy", "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive", "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome", "spinocerebellar ataxia with epilepsy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions." }, "child_count": 4, "reference_id": "MONDO:0011835" }, { "id": 13165, "label": "AICA-ribosiduria", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16198, 19100, 19765 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013781", "MEDGEN:332474", "MESH:C563876", "OMIM:608688", "Orphanet:250977", "SCTID:725289009", "UMLS:C1837530" ], "synonyms": [ "5-amino-4-imidazole carboxamide ribosiduria", "AICA-ribosiduria due to ATIC deficiency", "ATIC deficiency", "AICAR transformylase/IMP cyclohydrolase deficiency", "Aica-Ribosuria due to Atic deficiency", "Atic deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." }, "child_count": 0, "reference_id": "MONDO:0012099" }, { "id": 13276, "label": "myofibrillar myopathy 3", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16083, 16734, 18865 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080094", "DOID:0110300", "GARD:0016871", "MEDGEN:811509", "MESH:C000598645", "MESH:C535906", "MESH:C563775", "OMIM:159000", "OMIM:182920", "OMIM:609200", "Orphanet:266", "Orphanet:268129", "Orphanet:98911", "SCTID:719985001", "SCTID:765092004", "SCTID:765196004", "UMLS:C3714934" ], "synonyms": [ "LGMD1A", "MYOT autosomal dominant distal myopathy", "MYOT autosomal dominant limb-girdle muscular dystrophy", "MYOT-related myofibrillar myopathy", "autosomal dominant distal myopathy caused by mutation in MYOT", "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT", "autosomal dominant limb-girdle muscular dystrophy type 1A", "distal myotilinopathy", "myofibrillar myopathy type 3", "myopathy, myofibrillar, type 3", "myotilinopathy", "spheroid body myopathy", "LGMD1", "MFM3", "autosomal dominant spheroid body myopathy", "limb-girdle muscular dystrophy type 1A", "muscular dystrophy, limb-girdle, type 1A", "muscular dystrophy, proximal, type 1A", "myopathy, myofibrillar, 3" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years." }, "child_count": 0, "reference_id": "MONDO:0012215" }, { "id": 13321, "label": "fibrosis of extraocular muscles, congenital, 3c", "isLeaf": true, "isRoot": false, "parents": [ 4427, 8980 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081019", "GARD:0015459", "MEDGEN:412956", "MESH:C567666", "OMIM:609384", "UMLS:C2750404" ], "synonyms": [ "CFEOM3C", "Feom4 locus", "fibrosis of extraocular muscles, congenital, 3C" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0012262" }, { "id": 13336, "label": "myofibrillar myopathy 4", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16734, 16777, 18865 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080095", "GARD:0001886", "MEDGEN:1648314", "MESH:C563718", "OMIM:609452", "Orphanet:98912", "UMLS:C4721886" ], "synonyms": [ "LDB3 myofibrillar myopathy (disease)", "ZASP-related myofibrillar myopathy", "myofibrillar myopathy (disease) caused by mutation in LDB3", "myofibrillar myopathy type 4", "myopathy, myofibrillar, type 4", "MFM4", "late-onset distal myopathy, Markesbery-Griggs type", "myopathy, myofibrillar, 4" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases." }, "child_count": 0, "reference_id": "MONDO:0012277" }, { "id": 13346, "label": "myofibrillar myopathy 5", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16776, 18865, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080096", "GARD:0017062", "MEDGEN:372186", "MESH:C537932", "OMIM:609524", "Orphanet:171445", "UMLS:C1836050" ], "synonyms": [ "FLNC myofibrillar myopathy (disease)", "myofibrillar myopathy (disease) caused by mutation in FLNC", "myofibrillar myopathy 5", "myofibrillar myopathy type 5", "myopathy, myofibrillar, type 5", "MFM5", "filaminopathy, autosomal dominant", "muscle filaminopathy", "myopathy, myofibrillar, 5", "myopathy, myofibrillar, filamin C-related" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, "child_count": 0, "reference_id": "MONDO:0012289" }, { "id": 13539, "label": "cone-rod synaptic disorder, congenital nonprogressive", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16849 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015485", "MEDGEN:874422", "OMIM:610427", "UMLS:C4041558" ], "synonyms": [ "cone-rod synaptic disorder, congenital nonprogressive", "CRSD", "night blindness, congenital stationary, incomplete, autosomal recessive", "night blindness, congenital stationary, incomplete, autosomal recessive, formerly", "night blindness, congenital stationary, type 2B", "night blindness, congenital stationary, type 2B, formerly" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0012490" }, { "id": 13546, "label": "congenital stationary night blindness autosomal dominant 3", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4427, 16849 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110715", "GARD:0015487", "MEDGEN:355313", "MESH:C566475", "OMIM:610444", "UMLS:C1864870" ], "synonyms": [ "CSNBAD3", "congenital stationary night blindness autosomal dominant type 3", "night blindness, congenital stationary, autosomal dominant type 3", "night blindness, congenital stationary, Nougaret type", "night blindness, congenital stationary, autosomal dominant 3" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21." }, "child_count": 0, "reference_id": "MONDO:0012497" }, { "id": 13547, "label": "congenital stationary night blindness autosomal dominant 1", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16849, 24753 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110862", "GARD:0015488", "MEDGEN:355852", "MESH:C566474", "OMIM:610445", "UMLS:C1864869" ], "synonyms": [ "CSNBAD1", "RHO congenital stationary night blindness", "congenital stationary night blindness autosomal dominant type 1", "congenital stationary night blindness caused by mutation in RHO", "night blindness, congenital stationary, autosomal dominant type 1", "night blindness, congenital stationary, autosomal dominant 1", "night blindness, congenital stationary, rhodopsin-related" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene." }, "child_count": 0, "reference_id": "MONDO:0012498" }, { "id": 13659, "label": "intellectual disability, autosomal recessive 12", "isLeaf": true, "isRoot": false, "parents": [ 4427, 19320, 26279 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081180", "GARD:0022540", "MEDGEN:370850", "MESH:C567019", "OMIM:611090", "UMLS:C1970200" ], "synonyms": [ "intellectual developmental disorder, autosomal recessive 12", "intellectual disability, autosomal recessive 12", "intellectual disability, autosomal recessive type 12", "mental retardation, autosomal recessive type 12", "MRT12", "mental retardation, autosomal recessive 12" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012612" }, { "id": 13761, "label": "progressive myoclonic epilepsy type 3", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16168, 16851, 19726 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111446", "GARD:0002167", "MEDGEN:388595", "MESH:C567095", "OMIM:611726", "Orphanet:263516", "Orphanet:699708", "SCTID:783064000", "UMLS:C2673257", "icd11.foundation:383417276" ], "synonyms": [ "CLN14 disease", "EPM3", "KCTD7 progressive myoclonic epilepsy", "PME type 3", "epilepsy, progressive myoclonic 3, with or without intracellular inclusions", "neuronal ceroid lipofuscinosis type 14", "progressive myoclonic epilepsy caused by mutation in KCTD7", "progressive myoclonic epilepsy due to KCTD7 deficiency", "progressive myoclonic epilepsy type 3", "progressive myoclonus epilepsy type 3", "EPM 3", "epilepsy progressive myoclonic type 3", "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions", "progressive myoclonic epilepsy 3" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene." }, "child_count": 0, "reference_id": "MONDO:0012721" }, { "id": 13814, "label": "chromosome 15q13.3 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 17332 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:74", "DOID:0060394", "GARD:0010296", "MEDGEN:393784", "MESH:C567439", "OMIM:612001", "Orphanet:199318", "SCTID:699254009", "UMLS:C2677613" ], "synonyms": [ "15q13.3 microdeletion syndrome", "Del(15)(q13.3)", "chromosome 15q13.3 microdeletion syndrome", "monosomy 15q13.3", "15q13.3 microdeletion", "chromosome 15q13.3 deletion syndrome", "microdeletion 15q13.3 syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." }, "child_count": 0, "reference_id": "MONDO:0012774" }, { "id": 14137, "label": "combined pituitary hormone deficiencies, genetic form", "isLeaf": false, "isRoot": false, "parents": [ 4427, 6876, 16526, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010602", "MEDGEN:906592", "OMIMPS:613038", "Orphanet:95494", "SCTID:718182008", "UMLS:C4273747" ], "synonyms": [ "familial congenital hypopituitarism", "genetic hypopituitarism", "multiple pituitary hormone deficiencies, genetic forms", "pituitary hormone deficiency, combined", "combined pituitary hormone deficiencies, genetic forms", "familial hypopituitarism" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy." }, "child_count": 36, "reference_id": "MONDO:0013099" }, { "id": 14482, "label": "congenital stationary night blindness 1D", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16849 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110868", "GARD:0015721", "MEDGEN:462543", "OMIM:613830", "UMLS:C3151193" ], "synonyms": [ "CSNB1D", "SLC24A1 congenital stationary night blindness", "congenital stationary night blindness 1D", "congenital stationary night blindness caused by mutation in SLC24A1", "congenital stationary night blindness type 1D", "night blindness, congenital stationary (complete), 1D, autosomal recessive", "Csnb, complete, autosomal recessive", "night blindness, congenital stationary, type 1D" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene." }, "child_count": 0, "reference_id": "MONDO:0013450" }, { "id": 14606, "label": "DYRK1A-related intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070037", "GARD:0013527", "MEDGEN:1799566", "OMIM:614104", "Orphanet:464306", "UMLS:C5568143" ], "synonyms": [ "MRD7", "autosomal dominant intellectual disability 7", "intellectual disability, autosomal dominant type 7", "mental retardation, autosomal dominant type 7", "autosomal dominant non-syndromic intellectual disability 7", "intellectual disability, autosomal dominant 7", "mental retardation, autosomal dominant 7" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13." }, "child_count": 6, "reference_id": "MONDO:0013578" }, { "id": 14712, "label": "Pitt-Hopkins-like syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16908, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111332", "GARD:0022416", "GARD:0024939", "MEDGEN:1842499", "MEDGEN:482109", "OMIM:614325", "Orphanet:600663", "UMLS:C3280479", "UMLS:C5681528" ], "synonyms": [ "NRXN1 Pitt-Hopkins-like syndrome", "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance", "PTHSL2", "Pitt-Hopkins-like syndrome 2", "Pitt-Hopkins-like syndrome caused by mutation in NRXN1", "Pitt-Hopkins-like syndrome type 2" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene." }, "child_count": 0, "reference_id": "MONDO:0013690" }, { "id": 15013, "label": "developmental and epileptic encephalopathy, 15", "isLeaf": true, "isRoot": false, "parents": [ 4427, 18257, 23814, 26279 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080414", "GARD:0015892", "MEDGEN:767230", "OMIM:615006", "UMLS:C3554316" ], "synonyms": [ "DEE15", "EIEE15", "developmental and epileptic encephalopathy 15", "epileptic encephalopathy, early infantile, 15", "epileptic encephalopathy, early infantile, type 15" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014003" }, { "id": 15016, "label": "Schuurs-Hoeijmakers syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070047", "GARD:0013043", "MEDGEN:767257", "NCIT:C150555", "OMIM:615009", "Orphanet:329224", "UMLS:C3554343" ], "synonyms": [ "MRD17", "SHMS", "Schuurs-Hoeijmakers syndrome", "autosomal dominant intellectual disability 17", "intellectual disability, autosomal dominant type 17", "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome", "mental retardation, autosomal dominant type 17", "PACS1-related syndrome", "autosomal dominant intellectual disability-17", "intellectual disability, autosomal dominant 17", "mental retardation, autosomal dominant 17" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed." }, "child_count": 0, "reference_id": "MONDO:0014006" }, { "id": 15044, "label": "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070048", "GARD:0012815", "MEDGEN:767362", "OMIM:615074", "Orphanet:363686", "UMLS:C3554448" ], "synonyms": [ "GAND syndrome", "MRD18", "autosomal dominant intellectual disability 18", "intellectual disability, autosomal dominant type 18", "mental retardation, autosomal dominant type 18", "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome", "GATAD2B-associated neurodevelopmental disorder", "autosomal dominant non-syndromic intellectual disability 18", "intellectual disability, autosomal dominant 18", "mental retardation, autosomal dominant 18" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3." }, "child_count": 0, "reference_id": "MONDO:0014034" }, { "id": 15045, "label": "severe intellectual disability-progressive spastic diplegia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24295, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070049", "GARD:0003505", "ICD10CM:Q87.88", "MEDGEN:767363", "OMIM:615075", "Orphanet:404473", "UMLS:C3554449" ], "synonyms": [ "CTNNB1 syndrome", "MRD19", "autosomal dominant intellectual disability 19", "intellectual disability, autosomal dominant type 19", "mental retardation, autosomal dominant type 19", "neurodevelopmental disorder with spastic diplegia and visual defects", "severe intellectual disability-progressive spastic diplegia syndrome", "CTNNB1-related intellectual disability", "autosomal dominant non-syndromic intellectual disability 19", "intellectual disability, autosomal dominant 19", "mental retardation, autosomal dominant 19" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." }, "child_count": 0, "reference_id": "MONDO:0014035" }, { "id": 15183, "label": "hypotonia, infantile, with psychomotor retardation and characteristic facies", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017609", "MEDGEN:1642314", "OMIMPS:615419", "Orphanet:371364", "UMLS:C4706556" ], "synonyms": [ "IHPRF", "IHPRF syndrome", "hypotonia, infantile, with psychomotor retardation and characteristic facies", "hypotonia-speech impairment-severe cognitive delay syndrome", "infantile hypotonia-psychomotor retardation-characteristic facies syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip)." }, "child_count": 9, "reference_id": "MONDO:0014176" }, { "id": 15207, "label": "developmental and epileptic encephalopathy, 18", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080413", "GARD:0013676", "MEDGEN:815954", "OMIM:615476", "Orphanet:369894", "UMLS:C3809624" ], "synonyms": [ "DEE18", "EIEE18", "developmental and epileptic encephalopathy 18", "early infantile epileptic encephalopathy without suppression burst", "epileptic encephalopathy, early infantile, 18", "epileptic encephalopathy, early infantile, type 18" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014201" }, { "id": 15219, "label": "CTCF-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070051", "GARD:0017566", "MEDGEN:816016", "OMIM:615502", "Orphanet:363611", "UMLS:C3809686" ], "synonyms": [ "MRD21", "intellectual development disorder, autosomal dominant 21", "intellectual disability, autosomal dominant 21", "intellectual disability, autosomal dominant type 21", "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome", "mental retardation, autosomal dominant 21", "mental retardation, autosomal dominant type 21" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss." }, "child_count": 0, "reference_id": "MONDO:0014213" }, { "id": 15363, "label": "autism spectrum disorder due to AUTS2 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070056", "GARD:0017520", "MEDGEN:862872", "OMIM:615834", "Orphanet:352490", "UMLS:C4014435" ], "synonyms": [ "ASD due to AUTS2 deficiency", "AUTS2 syndrome", "MRD26", "autism spectrum disorder due to AUTS2 deficiency", "intellectual developmental disorder, autosomal dominant 26", "intellectual disability type 26", "mental retardation, autosomal dominant 26", "mental retardation, autosomal dominant type 26" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures." }, "child_count": 0, "reference_id": "MONDO:0014361" }, { "id": 15373, "label": "developmental and epileptic encephalopathy, 23", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16437, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080415", "GARD:0017687", "MEDGEN:862929", "OMIM:615859", "Orphanet:411986", "UMLS:C4014492" ], "synonyms": [ "EIEE23", "developmental and epileptic encephalopathy 23", "developmental and epileptic encephalopathy, 23", "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome", "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome", "epileptic encephalopathy, early infantile, 23", "epileptic encephalopathy, early infantile, type 23" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014371" }, { "id": 15381, "label": "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070058", "GARD:0012931", "MEDGEN:862975", "NORD:1965", "OMIM:615873", "Orphanet:404448", "SCTID:766824003", "UMLS:C4014538" ], "synonyms": [ "ADNP Syndrome", "ADNP syndrome", "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder", "HVDAS", "Helsmoortel-Van der Aa syndrome", "autosomal dominant intellectual disability 28", "intellectual disability, autosomal dominant 28", "mental retardation, autosomal dominant 28" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13." }, "child_count": 0, "reference_id": "MONDO:0014379" }, { "id": 15439, "label": "Bardet-Biedl syndrome 11", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16120, 16754 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110133", "GARD:0010210", "MEDGEN:395295", "MESH:C565920", "OMIM:615988", "UMLS:C1859569" ], "synonyms": [ "BBS11", "Bardet-Biedl syndrome 11", "Bardet-Biedl syndrome caused by mutation in TRIM32", "Bardet-Biedl syndrome type 11", "TRIM32 Bardet-Biedl syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene." }, "child_count": 0, "reference_id": "MONDO:0014439" }, { "id": 15528, "label": "cerebellar-facial-dental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080898", "GARD:0017761", "MEDGEN:863932", "OMIM:616202", "Orphanet:444072", "UMLS:C4015495" ], "synonyms": [ "Cerebellofaciodental syndrome", "cerebellar-facial-dental syndrome", "CEREBELLOFACIODENTAL syndrome", "CFDS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32." }, "child_count": 0, "reference_id": "MONDO:0014529" }, { "id": 15537, "label": "fibrosis of extraocular muscles, congenital, 5", "isLeaf": true, "isRoot": false, "parents": [ 4427, 8980, 9644 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081020", "GARD:0018164", "MEDGEN:863989", "OMIM:616219", "UMLS:C4015552" ], "synonyms": [ "COL25A1 congenital fibrosis of extraocular muscles", "congenital fibrosis of extraocular muscles caused by mutation in COL25A1", "fibrosis of extraocular muscles, congenital, 5", "fibrosis of extraocular muscles, congenital, type 5", "CFEOM5" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene." }, "child_count": 0, "reference_id": "MONDO:0014538" }, { "id": 15541, "label": "congenital myasthenic syndrome 15", "isLeaf": true, "isRoot": false, "parents": [ 4427, 18862, 24284 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110658", "GARD:0018453", "MEDGEN:864033", "OMIM:616227", "UMLS:C4015596" ], "synonyms": [ "ALG14 congenital myasthenic syndrome", "CMS15", "congenital myasthenic syndrome caused by mutation in ALG14", "congenital myasthenic syndrome type 15", "myasthenic syndrome, congenital, 15, without tubular aggregates", "myasthenic syndrome, congenital, type 15", "myasthenic syndrome, congenital, 15", "myasthenic syndrome, congenital, without tubular aggregates" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene." }, "child_count": 0, "reference_id": "MONDO:0014542" }, { "id": 15551, "label": "lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16094, 18845, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017743", "MEDGEN:864138", "OMIM:616258", "Orphanet:439897", "UMLS:C4015701" ], "synonyms": [ "Meckel syndrome type 12", "MKS12", "Meckel syndrome 12" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise." }, "child_count": 0, "reference_id": "MONDO:0014552" }, { "id": 15556, "label": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16201, 24272, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070062", "GARD:0017797", "MEDGEN:903767", "NORD:1954", "OMIM:616268", "Orphanet:457193", "UMLS:C4225396" ], "synonyms": [ "Arboleda-Tham syndrome", "KAT6A Syndrome", "MRD32", "autosomal dominant intellectual disability 32", "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "intellectual disability, autosomal dominant type 32", "mental retardation, autosomal dominant type 32", "autosomal dominant non-syndromic intellectual disability 32", "intellectual disability, autosomal dominant 32", "mental retardation, autosomal dominant 32" ], "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" } ], "definition": "A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described." }, "child_count": 0, "reference_id": "MONDO:0014558" }, { "id": 15588, "label": "congenital myasthenic syndrome 18", "isLeaf": true, "isRoot": false, "parents": [ 4427, 24775 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110683", "GARD:0016091", "MEDGEN:906793", "OMIM:616330", "UMLS:C4225364" ], "synonyms": [ "CMS18", "SNAP25 congenital myasthenic syndrome", "SNAP25-DEE", "congenital myasthenic syndrome caused by mutation in SNAP25", "congenital myasthenic syndrome type 18", "myasthenic syndrome, congenital, 18", "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia", "myasthenic syndrome, congenital, type 18" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene." }, "child_count": 0, "reference_id": "MONDO:0014590" }, { "id": 15599, "label": "autosomal recessive spinocerebellar ataxia 20", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16133, 19709 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080066", "GARD:0017636", "MEDGEN:1684324", "OMIM:616354", "Orphanet:397709", "UMLS:C5190595" ], "synonyms": [ "SCAR20", "SNX14 autosomal recessive cerebellar ataxia", "autosomal recessive cerebellar ataxia caused by mutation in SNX14", "autosomal recessive spinocerebellar ataxia type 20", "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome", "spinocerebellar ataxia, autosomal recessive type 20", "intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome", "spinocerebellar ataxia, autosomal recessive 20" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene." }, "child_count": 0, "reference_id": "MONDO:0014601" }, { "id": 15600, "label": "Houge-Janssens syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323, 25718 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070065", "GARD:0017802", "MEDGEN:1830493", "OMIM:616355", "Orphanet:457279", "UMLS:C5779996" ], "synonyms": [ "MRD35", "autosomal dominant intellectual disability 35", "intellectual disability, autosomal dominant type 35", "intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome", "mental retardation, autosomal dominant type 35", "autosomal dominant non-syndromic intellectual disability 35", "intellectual disability, autosomal dominant 35", "mental retardation, autosomal dominant 35" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1." }, "child_count": 0, "reference_id": "MONDO:0014602" }, { "id": 15604, "label": "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070067", "GARD:0013774", "MEDGEN:897984", "OMIM:616364", "Orphanet:468678", "UMLS:C4225351" ], "synonyms": [ "MRD37", "WHSUS", "autosomal dominant intellectual disability 37", "intellectual disability, autosomal dominant type 37", "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome", "mental retardation, autosomal dominant type 37", "WHITE-Sutton syndrome", "White-Sutton syndrome", "intellectual disability, autosomal dominant 37", "mental retardation, autosomal dominant 37" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." }, "child_count": 0, "reference_id": "MONDO:0014606" }, { "id": 15611, "label": "congenital stationary night blindness 1G", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7611, 16849 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110714", "GARD:0016099", "MEDGEN:906532", "OMIM:616389", "UMLS:C4225345" ], "synonyms": [ "CSNB1G", "congenital stationary night blindness type 1G", "night blindness, congenital stationary, type 1G" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21." }, "child_count": 0, "reference_id": "MONDO:0014614" }, { "id": 15628, "label": "hypomyelinating leukodystrophy 10", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060788", "GARD:0025008", "MEDGEN:904191", "OMIM:616420", "Orphanet:481152", "UMLS:C4225332" ], "synonyms": [ "HLD10", "PYCR2 leukodystrophy", "PYCR2-related microcephaly-progressive leukoencephalopathy", "hypomyelinating leukodystrophy type 10", "leukodystrophy caused by mutation in PYCR2", "leukodystrophy, hypomyelinating, 10", "leukodystrophy, hypomyelinating, type 10" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene." }, "child_count": 0, "reference_id": "MONDO:0014632" }, { "id": 15643, "label": "developmental and epileptic encephalopathy, 50", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7156, 17978, 19102, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080419", "GARD:0013621", "MEDGEN:904125", "OMIM:616457", "Orphanet:448010", "UMLS:C4225320" ], "synonyms": [ "CAD-CDG", "CDG syndrome type Iz", "CDG-Iz", "CDG1Z", "DEE50", "EIEE50", "carbohydrate deficient glycoprotein syndrome type Iz", "congenital disorder of glycosylation type 1z", "developmental and epileptic encephalopathy 50", "epileptic encephalopathy, early infantile, 50", "congenital disorder of glycosylation, type Iz", "congenital disorder of glycosylation, type Iz, formerly" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014647" }, { "id": 15657, "label": "congenital insensitivity to pain-hypohidrosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16223 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070153", "GARD:0017866", "MEDGEN:894363", "OMIM:616488", "Orphanet:478664", "UMLS:C4225308" ], "synonyms": [ "CIP-hypohidrosis syndrome", "HSAN8", "hereditary sensory and autonomic neuropathy type 8", "hereditary sensory and autonomic neuropathy type VIII", "HSAN 8", "neuropathy, hereditary sensory and autonomic, type 8", "neuropathy, hereditary sensory and autonomic, type VIII" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34." }, "child_count": 0, "reference_id": "MONDO:0014662" }, { "id": 15709, "label": "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24020, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013636", "MEDGEN:899689", "NORD:91167", "OMIM:616638", "Orphanet:457485", "UMLS:C4225259" ], "synonyms": [ "MINDS syndrome", "Smith-Kingsmore Syndrome", "Smith-Kingsmore syndrome", "SKS", "SMITH-Kingsmore syndrome", "macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism", "macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others." }, "child_count": 0, "reference_id": "MONDO:0014716" }, { "id": 15738, "label": "SLC39A8-CDG", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7157, 16087, 16198, 17973, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070266", "GARD:0017846", "MEDGEN:899837", "OMIM:616721", "Orphanet:468699", "UMLS:C4225234" ], "synonyms": [ "CDG syndrome type IIn", "CDG-IIn", "CDG2N", "SLC39A8 deficiency", "carbohydrate deficient glycoprotein syndrome type IIn", "congenital disorder of glycosylation type 2n", "congenital disorder of glycosylation type IIn", "congenital disorder of glycosylation, type IIn", "CDG IIn" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014746" }, { "id": 15753, "label": "spastic paraplegia-severe developmental delay-epilepsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16082, 16087, 16437 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017816", "MEDGEN:897828", "OMIM:616756", "Orphanet:464282", "UMLS:C4225215" ], "synonyms": [ "SPPRS syndrome", "spastic paraplegia-psychomotor retardation-seizures syndrome", "SPPRS", "spastic paraplegia and psychomotor retardation with or without seizures" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement." }, "child_count": 0, "reference_id": "MONDO:0014764" }, { "id": 15762, "label": "cardiac anomalies - developmental delay - facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24272, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017588", "HGNC:22962", "MEDGEN:1675852", "OMIM:616789", "Orphanet:369891", "UMLS:C5192431" ], "synonyms": [ "ASRAS", "Asadollahi-Rauch syndrome", "MED13L haploinsufficiency syndrome", "MED13L syndrome", "MED13L-related intellectual disability", "MRFACD", "cardiac anomalies - developmental delay - facial dysmorphism syndrome", "developmental delay-facial dysmorphism syndrome due to MED13L deficiency", "impaired intellectual development and distinctive facial features with or without cardiac defects", "intellectual disability and distinctive facial features with or without cardiac defects", "mental retardation and distinctive Facial features with or without Cardiac defects", "MED13L-related syndrome", "MRFACD syndrome", "mental retardation and distinctive FACIAL features with or without CARDIAC defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features, such as cardiac defects." }, "child_count": 0, "reference_id": "MONDO:0014773" }, { "id": 15775, "label": "severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017824", "MEDGEN:902346", "OMIM:616819", "Orphanet:466688", "UMLS:C4225193" ], "synonyms": [ "CCAFCA", "corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia", "Birk-Flusser syndrome", "corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014787" }, { "id": 15817, "label": "intellectual disability, autosomal recessive 53", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16607, 17977, 24320 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017897", "MEDGEN:934761", "OMIM:616917", "Orphanet:488635", "UMLS:C4310794" ], "synonyms": [ "GPIBD13", "MRT53", "PIGG-CDG", "congenital disorder of glycosylation due to PIGG deficiency", "early-onset epilepsy-intellectual disability-brain anomalies syndrome", "glycosylphosphatidylinositol biosynthesis defect 13", "intellectual developmental disorder, autosomal recessive 53", "intellectual disability, autosomal recessive 53", "intellectual disability, autosomal recessive type 53", "mental retardation, autosomal recessive 53", "mental retardation, autosomal recessive type 53" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014832" }, { "id": 15832, "label": "TELO2-related intellectual disability-neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16088, 17327, 18956, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017898", "MEDGEN:934745", "OMIM:616954", "Orphanet:488642", "UMLS:C4310778" ], "synonyms": [ "you-Hoover-Fong syndrome", "YHFS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014848" }, { "id": 15873, "label": "micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070074", "GARD:0017850", "MEDGEN:934707", "OMIM:617061", "Orphanet:476126", "UMLS:C4310740" ], "synonyms": [ "MEBAS", "MRD44", "autosomal dominant intellectual disability 44", "intellectual developmental disorder, autosomal dominant 44, with microcephaly", "mercer-Ba syndrome", "autosomal dominant non-syndromic intellectual disability 44", "intellectual disability, autosomal dominant 44", "mental retardation, autosomal dominant 44" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014892" }, { "id": 15880, "label": "autosomal recessive limb-girdle muscular dystrophy type 2Y", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16084, 24306 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110289", "GARD:0017708", "MEDGEN:1385152", "NCIT:C181000", "OMIM:617072", "Orphanet:424261", "SCTID:725907002", "UMLS:C4511482" ], "synonyms": [ "LGMD2Y", "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1", "autosomal recessive muscular dystrophy due to LAP1B deficiency", "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency", "muscular dystrophy with progressive weakness, distal contractures and rigid spine", "muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy." }, "child_count": 0, "reference_id": "MONDO:0014900" }, { "id": 15901, "label": "myofibrillar myopathy 7", "isLeaf": false, "isRoot": false, "parents": [ 4427, 18865, 26613 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080098", "GARD:0025034", "MEDGEN:934678", "OMIM:617114", "UMLS:C4310711" ], "synonyms": [ "KY myofibrillar myopathy (disease)", "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy", "myofibrillar myopathy (disease) caused by mutation in KY", "myopathy, myofibrillar, 7", "myopathy, myofibrillar, type 7", "MFM7" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene." }, "child_count": 3, "reference_id": "MONDO:0014922" }, { "id": 15923, "label": "short stature-brachydactyly-obesity-global developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19473, 24320 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017817", "MEDGEN:934656", "OMIM:617157", "Orphanet:464288", "UMLS:C4310689" ], "synonyms": [ "SBIDDS", "short stature, brachydactyly, intellectual developmental disability, and seizures" ], "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:0014944" }, { "id": 15955, "label": "autosomal recessive limb-girdle muscular dystrophy type 2R1", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16084, 17974 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080762", "GARD:0017869", "MEDGEN:934627", "NCIT:C142082", "OMIM:617232", "Orphanet:480682", "UMLS:C4310660" ], "synonyms": [ "LGMD2Z", "POGLUT1 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1", "autosomal recessive limb-girdle muscular dystrophy type 2Z", "limb-girdle muscular dystrophy type 2Z", "muscular dystrophy, limb-girdle, autosomal recessive 21", "muscular dystrophy, limb-girdle, type 2Z" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients." }, "child_count": 0, "reference_id": "MONDO:0014977" }, { "id": 16138, "label": "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24045 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003482", "MEDGEN:1682668", "Orphanet:1236", "UMLS:C5190778" ], "synonyms": [ "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome", "BD syndrome", "intellectual disability - athetosis - microphthalmia", "intellectual disability-athetosis-microphthalmia syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015252" }, { "id": 16193, "label": "congenital laryngeal palsy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 6195 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012713", "MEDGEN:96003", "Orphanet:137932", "UMLS:C0396058", "icd11.foundation:1508780420" ], "synonyms": [ "congenital vocal cord paralysis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months." }, "child_count": 0, "reference_id": "MONDO:0015316" }, { "id": 16335, "label": "congenital or early infantile CACH syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 25036 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016978", "MEDGEN:1842419", "Orphanet:157713", "UMLS:C5680650", "icd11.foundation:2136523495" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015519" }, { "id": 16342, "label": "congenital epulis", "isLeaf": true, "isRoot": false, "parents": [ 4427, 5328, 7788, 7941, 7993, 20327, 20677 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7280", "DOID:8303", "GARD:0020016", "MEDGEN:83962", "MESH:D005887", "NCIT:C4675", "Orphanet:157826", "SCTID:360525006", "UMLS:C0376319", "icd11.foundation:1616915738" ], "synonyms": [ "Neumann tumor", "Neumann tumour", "congenital epulis", "congenital gingival cell tumor", "congenital gingival cell tumour", "congenital granular cell tumor", "congenital granular cell tumour", "gingival granular cell tumor", "gingival granular cell tumour" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0006858", "name": "mouth disorder" } ], "definition": "A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative." }, "child_count": 0, "reference_id": "MONDO:0015528" }, { "id": 16495, "label": "severe congenital nemaline myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16780, 16781, 18880, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012821", "MEDGEN:1805110", "Orphanet:171430", "UMLS:C5680451", "icd11.foundation:1025202057" ], "synonyms": [ "severe congenital (neonatal) NM" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates." }, "child_count": 25, "reference_id": "MONDO:0015735" }, { "id": 16496, "label": "intermediate nemaline myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 7023, 16780, 16781, 17624 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012823", "MEDGEN:1803914", "Orphanet:171433", "UMLS:C5680452", "icd11.foundation:1667070006" ], "synonyms": [ "Intermediate congenital NM", "Intermediate congenital nemaline myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression." }, "child_count": 20, "reference_id": "MONDO:0015736" }, { "id": 16497, "label": "typical nemaline myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16780, 16781, 17624, 18880, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012822", "MEDGEN:1806265", "Orphanet:171436", "UMLS:C5680453", "icd11.foundation:1105111633" ], "synonyms": [ "typical congenital nemaline myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement." }, "child_count": 36, "reference_id": "MONDO:0015737" }, { "id": 16498, "label": "childhood-onset nemaline myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16780, 16781, 17624, 18880, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007171", "MEDGEN:154265", "Orphanet:171439", "UMLS:C0546125" ], "synonyms": [ "mild nemaline myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." }, "child_count": 36, "reference_id": "MONDO:0015738" }, { "id": 16499, "label": "adult-onset nemaline myopathy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16780, 16781, 18880, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012824", "MEDGEN:154264", "Orphanet:171442", "UMLS:C0546123", "icd11.foundation:1610331066" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset." }, "child_count": 0, "reference_id": "MONDO:0015739" }, { "id": 16755, "label": "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", "isLeaf": false, "isRoot": false, "parents": [ 4427, 17974, 18397, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020402", "MEDGEN:1842564", "Orphanet:207113", "UMLS:C5679795" ], "synonyms": [ "secondary alpha-dystroglycanopathy", "secondary dystroglycanopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 36, "reference_id": "MONDO:0016155" }, { "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": 16871, "label": "congenital insensitivity to pain with hyperhidrosis", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16223 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020514", "MEDGEN:1830087", "Orphanet:217399", "UMLS:C5679817" ], "synonyms": [ "congenital absence of pain with hyperhidrosis", "congenital analgesia with hyperhidrosis", "congenital indifference to pain with hyperhidrosis", "congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0016319" }, { "id": 16885, "label": "congenital hydrocephalus", "isLeaf": false, "isRoot": false, "parents": [ 3395, 4427, 20383, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006682", "ICD10CM:Q03", "ICD10WHO:Q03", "MEDGEN:9336", "MedDRA:10010506", "NANDO:2200822", "NCIT:C98876", "OMIMPS:236600", "Orphanet:2185", "SCTID:47032000", "UMLS:C0020256", "icd11.foundation:1878746673" ], "synonyms": [ "congenital hydrocephalus", "HYC3" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hydrocephalus that is present at birth." }, "child_count": 32, "reference_id": "MONDO:0016349" }, { "id": 17053, "label": "familial congenital mirror movements", "isLeaf": false, "isRoot": false, "parents": [ 4427, 7073, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111153", "GARD:0012551", "MEDGEN:473166", "OMIMPS:157600", "Orphanet:238722", "SCTID:229247004", "UMLS:C0454455", "icd11.foundation:1966778637" ], "synonyms": [ "familial congenital controlateral synkinesia", "familial congenital mirror movements", "hereditary congenital controlateral synkinesia", "hereditary congenital mirror movements", "isolated congenital controlateral synkinesia", "isolated congenital mirror movements", "CMM", "bimanual synkinesis", "congenital mirror movement disorder", "congenital mirror movements" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected." }, "child_count": 12, "reference_id": "MONDO:0016558" }, { "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": 17458, "label": "cephalocele", "isLeaf": false, "isRoot": false, "parents": [ 4427, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020967", "HP:0011815", "ICD10CM:Q01", "ICD9:742.0", "MEDGEN:4934", "NCIT:C84687", "Orphanet:268817", "SCTID:55999004", "UMLS:C0014065", "icd11.foundation:1520916568" ], "synonyms": [ "cephalocele", "cephalocele (disease)", "cranium bifidum", "encephalocele" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used." }, "child_count": 4, "reference_id": "MONDO:0017078" }, { "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": 17891, "label": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000345", "MEDGEN:162925", "MESH:C536715", "Orphanet:3055", "UMLS:C0796264" ], "synonyms": [ "Young-Hughes syndrome", "Sex-linked intellectual disability, short stature, obesity and hypogonadism", "Sex-linked mental retardation, short stature, obesity and hypogonadism", "X-linked intellectual disability - short stature – obesity" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982." }, "child_count": 0, "reference_id": "MONDO:0017614" }, { "id": 18015, "label": "7p22.1 microduplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 4427, 16087, 17360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021367", "MEDGEN:1641886", "Orphanet:314034", "SCTID:764703002", "UMLS:C4707093" ], "synonyms": [ "dup(7)(p22.1)", "trisomy 7p22.1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated." }, "child_count": 0, "reference_id": "MONDO:0017792" }, { "id": 18129, "label": "congenital achiasma", "isLeaf": true, "isRoot": false, "parents": [ 4427, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021438", "MEDGEN:1392790", "Orphanet:324353", "SCTID:734031008", "UMLS:C4518345" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." }, "child_count": 0, "reference_id": "MONDO:0017929" }, { "id": 18290, "label": "congenital retinal arteriovenous communication", "isLeaf": true, "isRoot": false, "parents": [ 4427, 6979 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021530", "MEDGEN:105478", "Orphanet:353334", "UMLS:C0521570" ], "synonyms": [ "congenital arteriovenous anastomoses of the retina", "congenital arteriovenous communication of the retina", "congenital retinal arteriovenous anastomoses" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0018145" }, { "id": 18430, "label": "3q27.3 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 3128, 4427, 16087 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021633", "MEDGEN:1651953", "Orphanet:397695", "UMLS:C4749427" ], "synonyms": [ "Del(3)(q27.3)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." }, "child_count": 0, "reference_id": "MONDO:0018341" }, { "id": 18437, "label": "Prader-Willi-like syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16088, 16526, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021641", "MEDGEN:816207", "Orphanet:398073", "UMLS:C3809877" ], "synonyms": [ "PWS-like" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities." }, "child_count": 12, "reference_id": "MONDO:0018354" }, { "id": 18476, "label": "9q31.1q31.3 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 4427, 16087, 17327 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021705", "MEDGEN:1665719", "Orphanet:401923", "UMLS:C4750910" ], "synonyms": [ "Del(9)(q31.1q31.3)", "monosomy 9q31.1q31.3" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018428" }, { "id": 18601, "label": "congenital oculomotor nerve palsy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16052 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021836", "MEDGEN:1804232", "Orphanet:440221", "UMLS:C5680054", "icd11.foundation:2135160463" ], "synonyms": [ "congenital CNIII lesion", "congenital third cranial nerve palsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0018599" }, { "id": 18602, "label": "congenital abducens nerve palsy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16052 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021837", "MEDGEN:724505", "Orphanet:440233", "UMLS:C1302994" ], "synonyms": [ "benign congenital sixth cranial nerve palsy", "congenital CNVI palsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0018600" }, { "id": 18672, "label": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 18362, 24488 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017785", "Orphanet:453499" ], "synonyms": [ "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 8, "reference_id": "MONDO:0018681" }, { "id": 18673, "label": "congenital insensitivity to pain with severe intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 4427, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021890", "MEDGEN:1814444", "Orphanet:453510", "UMLS:C5679994" ], "synonyms": [ "congenital absence of pain with severe intellectual disability", "congenital analgesia with severe intellectual disability", "congenital insensitivity to pain with preserved temperature sensation", "congenital insensitivity to pain with severe non-progressive cognitive delay" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018682" }, { "id": 18701, "label": "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 17206, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017815", "MEDGEN:1811349", "Orphanet:459070", "UMLS:C5687848" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018724" }, { "id": 18764, "label": "global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7019, 16087, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017871", "MEDGEN:1798945", "Orphanet:480898", "UMLS:C5567522" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia)." }, "child_count": 0, "reference_id": "MONDO:0018822" }, { "id": 18774, "label": "lissencephaly spectrum disorders", "isLeaf": false, "isRoot": false, "parents": [ 4427, 20383, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050453", "GARD:0012291", "HP:0001339", "MEDGEN:78604", "MESH:D054082", "MedDRA:10048911", "NANDO:1200574", "NANDO:2200817", "NCIT:C103921", "NORD:1374", "OMIMPS:607432", "Orphanet:48471", "SCTID:204036008", "UMLS:C0266463" ], "synonyms": [ "Lissencephaly", "lissencephaly", "lissencephaly (disease)", "lissencephaly spectrum disorders", "Broad gyri of cerebrum", "large gyri of cerebrum", "macrogyria", "pachygyria" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis." }, "child_count": 42, "reference_id": "MONDO:0018838" }, { "id": 18817, "label": "hyaline body myopathy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16782, 19669 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111267", "GARD:0007148", "Orphanet:53698", "icd11.foundation:352828432" ], "synonyms": [ "myosin storage myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018889" }, { "id": 18847, "label": "22q11.2 deletion syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 6778, 6967, 16088, 20971 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:16", "GARD:0010299", "MedDRA:10012979", "MedDRA:10066430", "NANDO:1200339", "NANDO:1200688", "NANDO:2200712", "NORD:853", "Orphanet:567", "icd11.foundation:1868156761" ], "synonyms": [ "22q11DS", "Cayler cardiofacial syndrome", "Chromosome 22q11.2 Deletion Syndrome", "Sedlackova syndrome", "Shprintzen syndrome", "Takao syndrome", "catch 22", "conotruncal anomaly face syndrome", "microdeletion 22q11.2", "monosomy 22q11", "DiGeorge sequence", "DiGeorge syndrome", "VCFS", "velocardiofacial syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." }, "child_count": 20, "reference_id": "MONDO:0018923" }, { "id": 18890, "label": "craniorachischisis", "isLeaf": true, "isRoot": false, "parents": [ 4427, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010504", "HP:0030770", "ICD10CM:Q00.1", "ICD9:740.1", "MEDGEN:56290", "MedDRA:10011321", "NCIT:C98907", "Orphanet:63260", "SCTID:32219008", "UMLS:C0152426", "icd11.foundation:675690362" ], "synonyms": [ "cranial rachischisis", "craniorachischisis", "craniorachischisis (disease)" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." }, "child_count": 0, "reference_id": "MONDO:0018969" }, { "id": 18914, "label": "Leber congenital amaurosis", "isLeaf": false, "isRoot": false, "parents": [ 4427, 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14791", "GARD:0000634", "MEDGEN:137922", "MESH:D057130", "MedDRA:10070667", "NCIT:C129075", "NORD:1351", "OMIMPS:204000", "Orphanet:65", "SCTID:193413001", "UMLS:C0339527", "icd11.foundation:650490256" ], "synonyms": [ "Leber congenital amaurosis", "amaurosis congenita of Leber", "Leber's congenital tapetoretinal degeneration", "Leber's congenital tapetoretinal dysplasia", "congenital absence of the rods and cones", "congenital retinal blindness" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life." }, "child_count": 42, "reference_id": "MONDO:0018998" }, { "id": 18970, "label": "Ritscher-Schinzel syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060565", "GARD:0005666", "MEDGEN:163220", "MESH:C535313", "OMIMPS:220210", "Orphanet:7", "SCTID:718556007", "UMLS:C0796137" ], "synonyms": [ "3C syndrome", "CCC dysplasia", "Craniocerebellocardiac dysplasia", "Ritscher-Schinzel syndrome", "craniocerebellocardiac dysplasia", "Dandy-Walker like malformation with atrioventricular septal defect", "Dandy-Walker-like malformation with ASD", "Dandy-Walker-like malformation with atrioventricular septal defect", "Ritscher Schinzel syndrome", "Ritscher-Schinzel cranio-cerebello-cardiac syndrome", "cranio-cerebello-cardiac dysplasia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies." }, "child_count": 16, "reference_id": "MONDO:0019078" }, { "id": 19058, "label": "Rubinstein-Taybi syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2961, 4427, 16087, 18362, 18956, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:7", "DOID:1933", "GARD:0007593", "ICD9:759.89", "MEDGEN:48517", "MESH:D012415", "MedDRA:10039281", "NANDO:1200461", "NANDO:2200955", "NCIT:C75466", "NORD:1682", "OMIMPS:180849", "Orphanet:783", "SCTID:45582004", "UMLS:C0035934", "icd11.foundation:692585833" ], "synonyms": [ "Broad thumb-hallux syndrome", "Broad thumbs-halluces syndrome", "Rubinstein-Taybi Syndrome", "RSTS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics." }, "child_count": 18, "reference_id": "MONDO:0019188" }, { "id": 19244, "label": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019053", "MEDGEN:930588", "Orphanet:85317", "UMLS:C4304919" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23." }, "child_count": 0, "reference_id": "MONDO:0019416" }, { "id": 19246, "label": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019054", "MEDGEN:930586", "Orphanet:85319", "UMLS:C4304917" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked." }, "child_count": 0, "reference_id": "MONDO:0019418" }, { "id": 19248, "label": "X-linked intellectual disability, Pai type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019056", "MEDGEN:930695", "Orphanet:85322", "SCTID:719011002", "UMLS:C4305026" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0019420" }, { "id": 19250, "label": "X-linked intellectual disability, Stevenson type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019058", "MEDGEN:930746", "Orphanet:85325", "SCTID:718909001", "UMLS:C4305077" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked syndromic intellectual disability characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0019422" }, { "id": 19251, "label": "X-linked intellectual disability, Stoll type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019059", "MEDGEN:930744", "Orphanet:85326", "SCTID:718911005", "UMLS:C4305075" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." }, "child_count": 0, "reference_id": "MONDO:0019423" }, { "id": 19667, "label": "congenital muscular dystrophy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 19744 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050557", "GARD:0009138", "ICD9:359.0", "MEDGEN:147063", "Orphanet:97242", "SCTID:240059009", "UMLS:C0699743", "icd11.foundation:396687076" ], "synonyms": [ "CMD", "MDC", "congenital MD" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." }, "child_count": 46, "reference_id": "MONDO:0019950" }, { "id": 19767, "label": "congenital vitreoretinal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 4427, 19766 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025155", "ICD9:743.56", "MEDGEN:757909", "Orphanet:98669", "SCTID:449866003", "UMLS:C3266134", "icd11.foundation:44221751" ], "synonyms": [ "vitreoretinal dysplasia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 18, "reference_id": "MONDO:0020247" }, { "id": 19808, "label": "periventricular nodular heterotopia", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16848, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050454", "GARD:0012724", "MEDGEN:358387", "MESH:D054091", "MedDRA:10066854", "NANDO:1201079", "OMIMPS:300049", "Orphanet:98892", "UMLS:C1868720", "icd11.foundation:20200096" ], "synonyms": [ "periventricular nodular heterotopia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." }, "child_count": 24, "reference_id": "MONDO:0020341" }, { "id": 19809, "label": "postsynaptic congenital myasthenic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 18862 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015022", "MEDGEN:199758", "Orphanet:98913", "UMLS:C0751883" ], "synonyms": [ "postsynaptic congenital myasthenic syndromes" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 28, "reference_id": "MONDO:0020344" }, { "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": 20324, "label": "congenital fibrosis of extraocular muscles type 1", "isLeaf": true, "isRoot": false, "parents": [ 4427, 8980 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081015", "GARD:0025287", "MEDGEN:376943", "OMIM:135700", "UMLS:C1851102" ], "synonyms": [ "CFEOM1", "KIF21A congenital fibrosis of extraocular muscles", "congenital fibrosis of extraocular muscles caused by mutation in KIF21A", "fibrosis of extraocular muscles, congenital, 1", "Feom1 locus", "blepharoptosis with absent eye movements", "fibrosis of extraocular muscles, congenital, 3B", "ophthalmoplegia, congenital" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene." }, "child_count": 0, "reference_id": "MONDO:0021083" }, { "id": 20764, "label": "Al Gazali Khidr Prem Chandran syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 8714, 19770 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000586", "MEDGEN:419678", "MESH:C535616", "UMLS:C2930951" ], "synonyms": [ "cherubism, optic atrophy and short stature" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. 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:0021838" }, { "id": 21087, "label": "distal arthrogryposis Moore weaver type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 10051, 19660 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001884", "MEDGEN:419054", "MESH:C536814", "UMLS:C2931342" ], "synonyms": [ "Moore Weaver syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022998" }, { "id": 21243, "label": "congenital myotonic dystrophy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16733 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009134", "MEDGEN:98051", "NCIT:C123308", "UMLS:C0410226", "icd11.foundation:599230687" ], "synonyms": [ "congenital myotonic dystrophy", "Congenital Myotonic dystrophies", "Congenital Myotonic dystrophy", "Congenital myotonic dystrophy", "MYOTONIC dystrophy CONGEN", "Myotonic dystrophies, Congenital", "Myotonic dystrophy, Congenital", "dystrophies, Congenital Myotonic", "dystrophy, Congenital Myotonic" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Myotonic dystrophy that is present at birth." }, "child_count": 0, "reference_id": "MONDO:0023595" }, { "id": 21895, "label": "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive", "isLeaf": true, "isRoot": false, "parents": [ 4427, 18862 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025545", "MEDGEN:1794157", "OMIM:619461", "UMLS:C5561947" ], "synonyms": [ "CMS7B", "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030341" }, { "id": 22117, "label": "intellectual disability, autosomal dominant 47", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16555 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080238", "GARD:0017935", "MEDGEN:1622196", "OMIM:617635", "Orphanet:502434", "UMLS:C4539951" ], "synonyms": [ "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome", "intellectual disability, autosomal dominant 47", "MRD47", "autosomal dominant intellectual disability 47", "autosomal dominant mental retardation 47", "mental retardation, autosomal dominant 47" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030912" }, { "id": 22118, "label": "intellectual disability, autosomal dominant 48", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080235", "GARD:0017924", "MEDGEN:1619532", "OMIM:617751", "Orphanet:500159", "UMLS:C4540321" ], "synonyms": [ "intellectual disability, autosomal dominant 48", "MRD48", "autosomal dominant intellectual disability 48", "autosomal dominant mental retardation 48", "mental retardation, autosomal dominant 48", "microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030913" }, { "id": 22191, "label": "spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis", "isLeaf": true, "isRoot": false, "parents": [ 4427, 24811 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112290", "GARD:0018025", "MEDGEN:1780157", "OMIM:619260", "Orphanet:611207", "UMLS:C5543257" ], "synonyms": [ "SHILCA", "SHILCA syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0031007" }, { "id": 22281, "label": "myasthenic syndrome, congenital, 23, presynaptic", "isLeaf": true, "isRoot": false, "parents": [ 4427, 24775 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016308", "MEDGEN:1648392", "OMIM:618197", "UMLS:C4748678" ], "synonyms": [ "CMS23", "MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032596" }, { "id": 22282, "label": "myasthenic syndrome, congenital, 24, presynaptic", "isLeaf": true, "isRoot": false, "parents": [ 4427, 24775 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016309", "MEDGEN:1648337", "OMIM:618198", "UMLS:C4748684" ], "synonyms": [ "CMS24", "MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032597" }, { "id": 22353, "label": "myasthenic syndrome, congenital, 25, presynaptic", "isLeaf": true, "isRoot": false, "parents": [ 4427, 24775 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016341", "MEDGEN:1683288", "OMIM:618323", "UMLS:C5193027" ], "synonyms": [ "myasthenic syndrome, congenital, 25", "CMS25", "MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032675" }, { "id": 22465, "label": "developmental and epileptic encephalopathy, 77", "isLeaf": true, "isRoot": false, "parents": [ 4427, 4594, 16198, 21353, 23814, 23985 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112213", "GARD:0016363", "MEDGEN:1684735", "OMIM:618548", "UMLS:C5231405" ], "synonyms": [ "DEE77", "EIEE77", "epileptic encephalopathy, early infantile, 77", "multiple congenital anomalies-hypotonia-seizures syndrome 4", "glycosylphosphatidylinositol biosynthesis defect 19" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032808" }, { "id": 22468, "label": "night blindness, congenital stationary, type1i", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16849, 24180 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016364", "MEDGEN:1684817", "OMIM:618555", "UMLS:C5231408" ], "synonyms": [ "CSNB1I", "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I", "night blindness, congenital stationary, type 1I" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0032811" }, { "id": 22641, "label": "neuropathy, congenital hypomelinating", "isLeaf": false, "isRoot": false, "parents": [ 4427, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025794", "MEDGEN:97965", "OMIMPS:605253", "UMLS:C0393818" ], "synonyms": [ "CHN" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0033352" }, { "id": 22765, "label": "congenital axonal neuropathy with encephalopathy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 6005 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022218", "MEDGEN:1814475", "Orphanet:538101", "UMLS:C5681314" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia." }, "child_count": 0, "reference_id": "MONDO:0034041" }, { "id": 22769, "label": "developmental and epileptic encephalopathy, 73", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16437, 23814 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112209", "GARD:0017988", "MEDGEN:1681654", "OMIM:618379", "Orphanet:544503", "UMLS:C5193065" ], "synonyms": [ "DEE73", "developmental and epileptic encephalopathy 73", "epileptic encephalopathy, early infantile, 73", "rnf13-related severe early-onset epileptic encephalopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0034106" }, { "id": 22803, "label": "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022367", "MEDGEN:1641154", "OMIM:617991", "Orphanet:589905", "UMLS:C4693860" ], "synonyms": [ "Chung-Jansen syndrome", "developmental delay, intellectual disability, obesity, and dysmorphic features", "DIDOD" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0035133" }, { "id": 22834, "label": "isolated exencephaly", "isLeaf": true, "isRoot": false, "parents": [ 4427 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022255", "MEDGEN:120577", "Orphanet:563612", "UMLS:C0266453" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0035402" }, { "id": 23303, "label": "myasthenic syndrome, congenital, 22", "isLeaf": true, "isRoot": false, "parents": [ 4427, 18862 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080587", "GARD:0025886", "MEDGEN:1393545", "OMIM:616224", "UMLS:C4479088" ], "synonyms": [ "myasthenic syndrome, congenital, 22", "CMS22", "Prepl deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044299" }, { "id": 23321, "label": "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025892", "MEDGEN:1385744", "OMIM:617450", "Orphanet:653767", "UMLS:C4479517" ], "synonyms": [ "Jansen de Vries syndrome", "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold", "IDDGIP" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017})." }, "child_count": 0, "reference_id": "MONDO:0044318" }, { "id": 23322, "label": "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16437, 24320 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017942", "MEDGEN:1375601", "OMIM:617452", "Orphanet:505237", "UMLS:C4479520" ], "synonyms": [ "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies", "IDDFSDA" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})." }, "child_count": 0, "reference_id": "MONDO:0044319" }, { "id": 23372, "label": "9q33.3q34.11 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 4427, 7019, 16087, 17327 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022009", "MEDGEN:1811810", "Orphanet:495818", "UMLS:C5680085" ], "synonyms": [ "9q33.3-q34.11 microdeletion syndrome", "Del(9)(q33.3q34.11)", "deletion 9q33.3q34.11", "monosomy 9q33.3-q34.11", "monosomy 9q33.3q34.11" ], "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:0044641" }, { "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": 23377, "label": "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 21292, 23939 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070423", "GARD:0017911", "MEDGEN:1798877", "OMIM:617193", "Orphanet:496641", "UMLS:C5567454" ], "synonyms": [ "PEBAT", "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum", "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044646" }, { "id": 23394, "label": "SIN3A-related intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022043", "Orphanet:500163" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 3, "reference_id": "MONDO:0044699" }, { "id": 23396, "label": "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7073, 16087, 19709, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070474", "GARD:0013658", "MEDGEN:1626007", "OMIM:617672", "Orphanet:500180", "UMLS:C4540086" ], "synonyms": [ "UBTF-related disorder", "CONDBA", "neurodegeneration, childhood-onset, with brain atrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044701" }, { "id": 23422, "label": "X-linked congenital stationary night blindness", "isLeaf": false, "isRoot": false, "parents": [ 2902, 4427, 16849 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003995" ], "synonyms": [ "X-linked CSNB", "XLCSNB", "congenital stationary night blindness, X-linked" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause." }, "child_count": 6, "reference_id": "MONDO:0044749" }, { "id": 23685, "label": "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017960", "MEDGEN:1380260", "OMIM:617527", "Orphanet:521426", "UMLS:C4479631" ], "synonyms": [ "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies", "NDMSBA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060502" }, { "id": 23793, "label": "FOXG1 disorder", "isLeaf": true, "isRoot": false, "parents": [ 3009, 4427, 17975, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070657", "GARD:0026022", "ICD10CM:F84.8", "MEDGEN:462055", "NCIT:C176903", "OMIM:613454", "Orphanet:561854", "Orphanet:598164", "UMLS:C3150705" ], "synonyms": [ "FOXG1 disorder", "FOXG1 inherited genetic disease", "FOXG1 syndrome", "FOXG1 syndrome due to intragenic alteration", "FOXG1-related epileptic-dyskinetic encephalopathy", "Rett syndrome, congenital variant", "inherited genetic disease caused by mutation in FOXG1" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A monogenic disease that has material basis in mutation in the FOXG1 gene." }, "child_count": 0, "reference_id": "MONDO:0100040" }, { "id": 23836, "label": "alpha-actinopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16744, 19669, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026038" ], "synonyms": [ "actin myopathy", "actinopathy", "ACTA1 disease", "alpha actinopathy", "alpha-actinopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance." }, "child_count": 16, "reference_id": "MONDO:0100084" }, { "id": 23858, "label": "TPM3-related myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 17624, 19669, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026050" ], "synonyms": [ "TPM3 myopathy", "TPM3-related myopathy", "congenital myopathy related to TPM3", "autosomal dominant TPM3-related myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation." }, "child_count": 12, "reference_id": "MONDO:0100108" }, { "id": 23886, "label": "X-linked recessive mitochondrial myopathy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 10856, 20040, 24271 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026061" ], "synonyms": [ "X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features." }, "child_count": 0, "reference_id": "MONDO:0100138" }, { "id": 23892, "label": "RYR1-related myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 19001, 19669, 24271 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026064", "Orphanet:98742" ], "synonyms": [ "RYR1-related disease", "RYR1-related disorder", "RYR1-related myopathy", "neurological muscular channelopathy due to a genetic ryanodine receptor defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion." }, "child_count": 20, "reference_id": "MONDO:0100150" }, { "id": 23917, "label": "TTN-related myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16778, 19669, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026073" ], "synonyms": [ "TTN myopathy", "congenital myopathy related to TTN" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes." }, "child_count": 8, "reference_id": "MONDO:0100175" }, { "id": 23937, "label": "TPM2-related myopathy", "isLeaf": false, "isRoot": false, "parents": [ 4427, 17624, 19669, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026079" ], "synonyms": [ "TPM2 myopathy", "TPM2-related myopathy", "autosomal dominant TPM2-related myopathy", "congenital myopathy related to TPM2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree." }, "child_count": 8, "reference_id": "MONDO:0100196" }, { "id": 24464, "label": "myopathy caused by variation in POMGNT1", "isLeaf": false, "isRoot": false, "parents": [ 4427, 7023, 17974, 24270, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026341" ], "synonyms": [ "POMGNT1 myopathy", "POMGNT1-related myopathy", "myopathy caused by mutation in POMGNT1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene." }, "child_count": 15, "reference_id": "MONDO:0700068" }, { "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": 25913, "label": "segmental spinal dysgenesis", "isLeaf": true, "isRoot": false, "parents": [ 4427, 4611 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027002", "MEDGEN:1863453", "Orphanet:656126", "UMLS:C5891176" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0958275" }, { "id": 26189, "label": "myopathy, myofibrillar, 13, with rimmed vacuoles", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16221, 18865 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0051045", "GARD:0027428", "MEDGEN:1799560", "OMIM:621078", "Orphanet:476093", "UMLS:C5568137" ], "synonyms": [ "HSPB8-associated autosomal dominant rimmed vacuolar myopathy", "HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome", "MFM13", "autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome", "limb-girdle rimmed vacuolar myopathy", "rimmed vacuoles myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles." }, "child_count": 0, "reference_id": "MONDO:0976133" }, { "id": 26313, "label": "congenital neuronal ceroid lipofuscinosis 10", "isLeaf": true, "isRoot": false, "parents": [ 4427, 13465 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:700487" ], "synonyms": [ "congenital CLN10 disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979371" } ], "roots": [ { "id": 6799, "label": "nervous system disorder" } ] }