{ "id": 16088, "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015160", "properties": { "xrefs": [ "GARD:0025062", "Orphanet:102284" ], "synonyms": [ "MCA/variable MR", "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome" ] }, "isLeaf": false, "isRoot": false, "child_count": 69, "parents": [ { "id": 18951, "label": "multiple congenital anomalies/dysmorphic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19507 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018876", "MEDGEN:1843247", "Orphanet:68341", "UMLS:C5681310" ], "synonyms": [ "MCAHS" ] }, "child_count": 5, "reference_id": "MONDO:0019042" } ], "children": [ { "id": 8470, "label": "acromegaloid facial appearance syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000501", "MEDGEN:167116", "MESH:C535655", "OMIM:102150", "Orphanet:965", "SCTID:720456009", "UMLS:C0796280" ], "synonyms": [ "acromegaloid facial appearance syndrome", "AFA syndrome", "thick lips and oral mucosa" ], "definition": "Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome." }, "child_count": 0, "reference_id": "MONDO:0007051" }, { "id": 8488, "label": "Hypoglossia-hypodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088, 17499, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000068", "ICD9:759.89", "MEDGEN:354928", "NORD:1215", "OMIM:103300", "Orphanet:989", "SCTID:35031005", "UMLS:C1863203" ], "synonyms": [ "Hanhart Syndrome", "Hanhart syndrome", "Jussieu syndrome", "aglossia-adactylia syndrome", "Hypoglossia-hypodactylia", "Hypoglossia-hypodactylia syndrome", "aglossia adactylia", "aglossia-adactylia", "oromandibular limb hypoplasia", "peromelia with micrognathia", "peromelia with micrognathism" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person." }, "child_count": 0, "reference_id": "MONDO:0007073" }, { "id": 8635, "label": "Brachymorphism-onychodysplasia-dysphalangism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6893, 16088, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000918", "MEDGEN:350585", "MESH:C536242", "OMIM:113477", "Orphanet:1292", "SCTID:720573009", "UMLS:C1862082" ], "synonyms": [ "Brachymorphism-onychodysplasia-dysphalangism syndrome", "Senior syndrome", "bod syndrome", "Brachymorphism onychodysplasia dysphalangism syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants." }, "child_count": 0, "reference_id": "MONDO:0007230" }, { "id": 8656, "label": "campomelic dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 6875, 7171, 16088, 19475 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050463", "GARD:0010027", "ICD9:733.29", "MEDGEN:354620", "MESH:D055036", "NCIT:C84609", "NORD:884", "OMIM:114290", "Orphanet:140", "SCTID:74928006", "UMLS:C1861922", "icd11.foundation:913761638" ], "synonyms": [ "CMD", "Campomelic Syndrome", "campomelic dwarfism", "campomelic dysplasia", "acampomelic campomelic dysplasia", "CMPD1", "Cmd1", "Cmpd", "Cmpd1/Sra1", "acampomelic campomelic dysplasia with autosomal Sex reversal", "campomelic dysplasia with autosomal Sex reversal", "camptomelic dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." }, "child_count": 0, "reference_id": "MONDO:0007251" }, { "id": 8700, "label": "cerebrocostomandibular syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111248", "GARD:0006026", "ICD9:759.89", "MEDGEN:120537", "MESH:C562538", "NORD:914", "OMIM:117650", "Orphanet:1393", "SCTID:51780007", "UMLS:C0265342", "icd11.foundation:1475063064" ], "synonyms": [ "cerebrocostomandibular syndrome", "CCM syndrome", "CCMS", "CEREBROCOSTOMANDIBULAR syndrome", "cerebro-costo-mandibular syndrome", "rib Gap defects with micrognathia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." }, "child_count": 0, "reference_id": "MONDO:0007301" }, { "id": 8729, "label": "autosomal dominant popliteal pterygium syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16088, 17729 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003242", "MEDGEN:1844082", "OMIM:119500", "Orphanet:1300", "SCTID:718222000", "UMLS:C5848052", "icd11.foundation:2069589860" ], "synonyms": [ "facio-genito-popliteal syndrome", "popliteal pterygium syndrome 1", "popliteal pterygium syndrome, autosomal dominant", "popliteal web syndrome", "PPS", "cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies", "cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies", "faciogenitopopliteal syndrome", "popliteal pterygium syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." }, "child_count": 0, "reference_id": "MONDO:0007334" }, { "id": 9147, "label": "Pallister-Hall syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16088, 18727, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9248", "GARD:0007305", "ICD9:759.89", "MEDGEN:120514", "MESH:D054975", "NCIT:C84987", "NORD:1545", "OMIM:146510", "Orphanet:672", "SCTID:56677004", "UMLS:C0265220", "icd11.foundation:1845613381" ], "synonyms": [ "PHS", "Pallister Hall syndrome", "Pallister-Hall syndrome", "ano-cerebro-digital syndrome", "hypothalamic hamartoblastoma syndrome", "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." }, "child_count": 4, "reference_id": "MONDO:0007804" }, { "id": 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": 9319, "label": "microgastria-limb reduction defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003640", "MEDGEN:322532", "MESH:C537554", "OMIM:156810", "Orphanet:2538", "UMLS:C1834929" ], "synonyms": [ "MLRD", "congenital microgastria and limb reduction defects", "microgastria limb reduction defect", "microgastria-limb reduction defects association" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the association of microgastria with a limb reduction defect." }, "child_count": 0, "reference_id": "MONDO:0007993" }, { "id": 9332, "label": "Mobius syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4235, 4370, 4427, 16052, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13501", "GARD:0008549", "ICD9:759.89", "MEDGEN:66357", "MESH:D020331", "MedDRA:10027789", "MedDRA:10030069", "NANDO:1200559", "NANDO:2200980", "NCIT:C84893", "NORD:1453", "OMIM:157900", "Orphanet:570", "SCTID:89444000", "UMLS:C0221060" ], "synonyms": [ "MBS", "Mobius syndrome", "Moebius Syndrome", "Moebius sequence", "Moebius syndrome", "Moebius syndrome, Isolated cases", "Möbius syndrome", "congenital facial diplegia", "oromandibular-limb hypogenesis spectrum", "absence or underdevelopment of the 6th and 7th cranial nerves", "congenital facial diplegia syndrome", "congenital oculofacial paralysis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies." }, "child_count": 5, "reference_id": "MONDO:0008006" }, { "id": 9428, "label": "oculodentodigital dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7019, 16088, 18360, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060291", "GARD:0007239", "ICD9:759.89", "MEDGEN:167236", "MESH:C563160", "MedDRA:10063691", "NORD:1519", "OMIM:164200", "Orphanet:2710", "SCTID:38215007", "UMLS:C0812437" ], "synonyms": [ "Meyer-Schwickerath syndrome", "ODDD syndrome", "Oculo-Dento-Digital Dysplasia", "oculo-dento-digital dysplasia", "oculodentodigital dysplasia", "oculodentoosseous dysplasia", "odd syndrome", "ODDD", "oculo-dento-digital syndrome", "oculodentodigital 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:0024458", "name": "disorder of visual system" } ], "definition": "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." }, "child_count": 4, "reference_id": "MONDO:0008111" }, { "id": 9517, "label": "Char syndrome", "isLeaf": true, "isRoot": false, "parents": [ 12908, 16088, 24336, 26520 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060563", "GARD:0001237", "ICD9:759.89", "MEDGEN:358356", "MESH:C566815", "OMIM:169100", "Orphanet:46627", "SCTID:703534001", "UMLS:C1868570" ], "synonyms": [ "Char syndrome", "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits", "CHAR", "CHAR syndrome", "Char", "patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies." }, "child_count": 0, "reference_id": "MONDO:0008209" }, { "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": 9693, "label": "Silver-Russell syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 16088, 18950 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14681", "GARD:0004870", "ICD9:759.89", "MEDGEN:104492", "MESH:D056730", "MedDRA:10062282", "NCIT:C85068", "NORD:1683", "OMIMPS:180860", "Orphanet:813", "SCTID:15069006", "UMLS:C0175693", "icd11.foundation:735297495" ], "synonyms": [ "Russell Silver syndrome", "Russell-Silver Syndrome", "Russell-Silver dwarfism", "Russell-Silver syndrome", "SRS", "Silver Russell syndrome", "Silver-Russell dwarfism", "Silver-Russell syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry." }, "child_count": 44, "reference_id": "MONDO:0008394" }, { "id": 9708, "label": "ulnar-mammary syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060614", "GARD:0000118", "ICD9:759.89", "MEDGEN:357886", "MESH:C536937", "NORD:1695", "OMIM:181450", "Orphanet:3138", "SCTID:700211007", "UMLS:C1866994", "icd11.foundation:1508836700" ], "synonyms": [ "Pallister ulnar-mammary syndrome", "Schinzel Syndrome", "Schinzel syndrome", "UMS", "ulnar-mammary syndrome", "ums", "ulnar-mammary syndrome of Pallister" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." }, "child_count": 0, "reference_id": "MONDO:0008411" }, { "id": 9790, "label": "short stature-wormian bones-dextrocardia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004856", "MEDGEN:350025", "MESH:C566105", "OMIM:185120", "Orphanet:2863", "SCTID:763631006", "UMLS:C1861448" ], "synonyms": [ "Stratton-Parker syndrome", "Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly", "STRATTON-PARKER syndrome", "Stratton Parker syndrome", "short stature wormian bones dextrocardia" ], "definition": "Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia." }, "child_count": 0, "reference_id": "MONDO:0008499" }, { "id": 9967, "label": "ablepharon macrostomia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060550", "GARD:0000003", "MEDGEN:395439", "MESH:C535557", "NORD:704", "OMIM:200110", "Orphanet:920", "SCTID:718575002", "UMLS:C1860224" ], "synonyms": [ "AMS", "Ablepharon-Macrostomia Syndrome", "ablepharon-macrostomia syndrome", "congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome." }, "child_count": 0, "reference_id": "MONDO:0008693" }, { "id": 9984, "label": "Goodman syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2717, 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002549", "MEDGEN:78551", "MESH:C537287", "OMIM:201020", "Orphanet:65798", "SCTID:720600004", "UMLS:C0265303" ], "synonyms": [ "ACPS 4", "ACPS4", "Goodman syndrome", "acrocephalopolysyndactyly type 4", "Goodman camptodactyly", "acrocephalopolysyndactyly type IV" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome." }, "child_count": 0, "reference_id": "MONDO:0008711" }, { "id": 10070, "label": "anophthalmia/microphthalmia-esophageal atresia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088, 16704 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111801", "GARD:0001443", "ICD9:758.5", "MEDGEN:347232", "OMIM:206900", "Orphanet:77298", "SCTID:698851003", "UMLS:C1859773" ], "synonyms": [ "MCOPS3", "anophthalmia/microphthalmia-esophageal atresia syndrome", "microphthalmia, syndromic type 3", "syndromic microphthalmia type 3", "Aeg syndrome", "SOX2 anophthalmia syndrome", "SOX2-related eye disorders", "anophthalmia clinical with associated anomalies", "anophthalmia esophageal genital syndrome", "anophthalmia microphthalmia esophageal atresia", "anophthalmia, clinical, with associated anomalies", "anophthalmia-esophageal-genital syndrome", "microphthalmia and esophageal atresia syndrome", "microphthalmia, syndromic 3", "optic nerve hypoplasia and abnormalities of the central nervous system", "syndromic microphthalmia, type 3" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." }, "child_count": 0, "reference_id": "MONDO:0008799" }, { "id": 10071, "label": "microphthalmia with limb anomalies", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060861", "GARD:0000722", "ICD9:755.8", "MEDGEN:154638", "MESH:C537769", "OMIM:206920", "Orphanet:1106", "SCTID:703403003", "UMLS:C0599973" ], "synonyms": [ "MLA", "OAS", "Ophthalmoacromelic syndrome", "Waardenburg anophthalmia syndrome", "anophthalmia-syndactyly syndrome", "microphthalmia with limb anomalies", "ophthalmoacromelic syndrome", "anophthalmia Waardenburg syndrome", "anophthalmia-syndactyly", "anophthalmos with limb anomalies", "anophthalmos-syndactyly" ], "definition": "Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." }, "child_count": 0, "reference_id": "MONDO:0008800" }, { "id": 10074, "label": "Antley-Bixler syndrome", "isLeaf": false, "isRoot": false, "parents": [ 12769, 16088, 16201 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050462", "DOID:0081289", "GARD:0005826", "MEDGEN:1714404", "NANDO:1200669", "NANDO:2200975", "NORD:792", "Orphanet:83", "SCTID:62964007", "UMLS:C5234850", "icd11.foundation:2027710139" ], "synonyms": [ "Antley Bixler syndrome", "multisynostotic osteodysgenesis with long bone fractures", "osteodysgenesis, multisynostotic with fractures", "osteodysgenesis, multisynostotic, with fractures", "trapezoidocephaly synostosis syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures." }, "child_count": 6, "reference_id": "MONDO:0008803" }, { "id": 10161, "label": "campomelia, Cumming type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 19154, 19475 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001061", "MEDGEN:347864", "MESH:C537966", "OMIM:211890", "Orphanet:1318", "SCTID:720599002", "UMLS:C1859371", "icd11.foundation:152223075" ], "synonyms": [ "campomelia, Cumming type", "Cumming syndrome", "campomelia Cumming type", "campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys", "cervical lymphocele with bowed long bones" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." }, "child_count": 0, "reference_id": "MONDO:0008896" }, { "id": 10223, "label": "CHARGE syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16088, 16526, 20691, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050834", "GARD:0000029", "ICD9:759.89", "MEDGEN:75567", "MESH:D058747", "MedDRA:10064063", "NANDO:1200464", "NANDO:2200972", "NCIT:C75100", "NORD:920", "Orphanet:138", "SCTID:47535005", "UMLS:C0265354", "icd11.foundation:52086532" ], "synonyms": [ "CHARGE association", "CHARGE syndrome", "Hall-Hittner syndrome", "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association", "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association", "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome", "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies", "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." }, "child_count": 5, "reference_id": "MONDO:0008965" }, { "id": 10274, "label": "Toriello-Carey syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005225", "MEDGEN:163225", "MESH:C563127", "OMIM:217980", "Orphanet:3338", "SCTID:722477003", "UMLS:C0796184", "icd11.foundation:147297969" ], "synonyms": [ "Toriello-Carey syndrome", "corpus callosum agenesis-blepharophimosis-Robin sequence syndrome", "agenesis of corpus callosum with facial anomalies and Robin sequence", "corpus callosum agenesis facial anomalies Robin sequence", "corpus callosum, agenesis of, with facial anomalies and ROBIN sequence" ], "definition": "Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." }, "child_count": 0, "reference_id": "MONDO:0009021" }, { "id": 10351, "label": "Donnai-Barrow syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090144", "GARD:0001899", "ICD9:759.89", "MEDGEN:347406", "MESH:C536390", "OMIM:222448", "Orphanet:2143", "SCTID:702418009", "UMLS:C1857277" ], "synonyms": [ "DBS/FOAR syndrome", "Donnai-Barrow syndrome", "FOAR syndrome", "Holmes-Schepens syndrome", "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria", "diaphragmatic hernia-exomphalos-hypertelorism syndrome", "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome", "facio-oculo-acoustico-renal syndrome", "faciooculoacousticorenal syndrome", "syndrome of ocular and facial anomalies, telecanthus and deafness", "diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria", "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria" ], "definition": "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common." }, "child_count": 0, "reference_id": "MONDO:0009104" }, { "id": 10447, "label": "lethal faciocardiomelic dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16088, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002229", "MEDGEN:384007", "MESH:C565578", "OMIM:227270", "Orphanet:1972", "SCTID:719400000", "UMLS:C1856891" ], "synonyms": [ "faciocardiomelic dysplasia lethal", "faciocardiomelic dysplasia, lethal" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." }, "child_count": 0, "reference_id": "MONDO:0009204" }, { "id": 10638, "label": "hypertrichotic osteochondrodysplasia Cantu type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7171, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060569", "GARD:0008585", "MEDGEN:208647", "MESH:C535572", "OMIM:239850", "Orphanet:1517", "SCTID:239087008", "UMLS:C0795905" ], "synonyms": [ "Cantu syndrome", "hypertrichotic osteochondrodysplasia (Cantu syndrome)", "Craniofaciocardioskeletal syndrome", "hypertrichotic osteochondrodysplasia", "hypertrichotic osteochondrodysplasia, Cantu type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009406" }, { "id": 10656, "label": "hypomandibular faciocranial dysostosis", "isLeaf": true, "isRoot": false, "parents": [ 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002907", "MEDGEN:343427", "MESH:C537154", "OMIM:241310", "Orphanet:1790", "SCTID:721845005", "UMLS:C1855848" ], "synonyms": [ "hypomandibular faciocranial dysostosis" ], "definition": "Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis." }, "child_count": 0, "reference_id": "MONDO:0009425" }, { "id": 10699, "label": "isotretinoin-like syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009675", "MEDGEN:96600", "MESH:C535542", "OMIM:243440", "Orphanet:2306", "SCTID:722006004", "UMLS:C0432364" ], "synonyms": [ "Kawashima syndrome", "microtia-aortic arch syndrome", "ISOTRETINOIN embryopathy-like syndrome", "Isotretinoin embryopathy like syndrome", "microtia aortic arch syndrome", "microtia-aortic Arch syndrome", "syndrome of microtia and aortic arch anomalies" ], "definition": "Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy." }, "child_count": 1, "reference_id": "MONDO:0009473" }, { "id": 10749, "label": "split hand-foot malformation 3", "isLeaf": true, "isRoot": false, "parents": [ 16088, 17069, 17376 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090025", "GARD:0003252", "MEDGEN:325070", "MESH:C565437", "NCIT:C75121", "OMIM:246560", "Orphanet:1307", "SCTID:722429003", "UMLS:C1838652" ], "synonyms": [ "10q24 microduplication syndrome", "Buttiens-Fryns syndrome", "SHFM3", "chromosome 10q24 duplication syndrome", "split hand-foot malformation 3", "split hand-foot malformation type 3", "split-hand/foot malformation 3, gene duplication syndrome", "split-hand/foot malformation type 3", "Buttiens Fryns syndrome", "Shsf3", "chromosome 10Q24 Duplication syndrome", "distal limb deficiencies-micrognathia syndrome", "limb deficiencies distal with micrognathia", "limb deficiencies, distal, with micrognathia", "split-hand/foot malformation 3" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." }, "child_count": 0, "reference_id": "MONDO:0009525" }, { "id": 10781, "label": "oculotrichoanal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003395", "ICD9:759.89", "MEDGEN:383680", "MESH:C536022", "OMIM:248450", "Orphanet:2717", "SCTID:703539006", "UMLS:C1855425" ], "synonyms": [ "MOTA syndrome", "Manitoba oculotrichoanal syndrome", "Marles syndrome", "Marles-Greenberg-Persaud syndrome", "MANITOBA oculotrichoanal syndrome", "MOTA", "Manitoba Trichoanal syndrome", "unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies" ] }, "child_count": 0, "reference_id": "MONDO:0009560" }, { "id": 10790, "label": "Hennekam-Beemer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003409", "ICD10CM:Q82.2", "MEDGEN:462843", "MESH:C536033", "OMIM:248910", "Orphanet:2135", "SCTID:722453009", "UMLS:C3151493" ], "synonyms": [ "mastocytosis-short stature-hearing loss syndrome", "Hennekam Beemer syndrome", "cutaneous mastocytosis, conductive hearing loss and microtia", "mastocytosis cutaneous with short stature conductive hearing loss and microtia", "skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability", "skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation" ], "definition": "Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009569" }, { "id": 10803, "label": "Mietens syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061196", "GARD:0003524", "ICD9:759.89", "MEDGEN:82695", "MESH:C537444", "OMIM:249600", "Orphanet:2557", "SCTID:40291001", "UMLS:C0265249", "icd11.foundation:1399358623" ], "synonyms": [ "intellectual disability, Mietens-Weber type", "Mietens-Weber syndrome", "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability", "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation", "intellectual disability syndrome, Mietens Weber type", "intellectual disability syndrome, Mietens-WEBER type", "mental retardation syndrome, Mietens Weber type", "mental retardation syndrome, Mietens-WEBER type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." }, "child_count": 0, "reference_id": "MONDO:0009582" }, { "id": 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": 11220, "label": "SHORT syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 16088, 16089, 16198, 19731, 29311 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111454", "GARD:0007633", "MEDGEN:164212", "MESH:C537327", "NORD:1710", "OMIM:269880", "Orphanet:3163", "UMLS:C0878684", "icd11.foundation:1264512044" ], "synonyms": [ "Aarskog-Ose-Pande syndrome", "Rieger anomaly-partial lipodystrophy syndrome", "SHORT syndrome", "lipodystrophy-Rieger anomaly-diabetes syndrome", "short syndrome", "lipodystrophy, partial, with Rieger anomaly and short stature", "partial lipodystrophy with Rieger anomaly and short stature", "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay", "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt." }, "child_count": 0, "reference_id": "MONDO:0010026" }, { "id": 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": 11726, "label": "occipital horn syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088, 16198, 17987, 23977 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111272", "GARD:0004017", "MEDGEN:82793", "MESH:C537860", "NANDO:1200654", "NANDO:2200581", "OMIM:304150", "Orphanet:198", "SCTID:59399004", "UMLS:C0268353" ], "synonyms": [ "occipital horn syndrome", "occipital horn syndrome, X-linked recessive", "EDS IX (formerly)", "EDS IX, formerly", "EDS9", "EDS9, formerly", "Ehlers-Danlos syndrome, occipital horn type", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Ehlers-Danlos syndrome, occipital horn type, formerly", "OHS", "cutis laxa X-linked", "cutis laxa, X-linked", "cutis laxa, X-linked, formerly" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." }, "child_count": 0, "reference_id": "MONDO:0010572" }, { "id": 12101, "label": "hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005518", "MEDGEN:764174", "MESH:C536461", "OMIM:600991", "Orphanet:2180", "SCTID:721229003", "UMLS:C3551260" ], "synonyms": [ "Ferlini-Ragno-Calzolari syndrome", "Waaler-Aarskog syndrome", "hydrocephalus, Sprengel anomaly, and costovertebral dysplasia", "hydrocephalus, costovertebral dysplasia, and Sprengel anomaly", "hydrocephalus, skeletal anomalies, and mental disturbance" ], "definition": "This syndrome is characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present." }, "child_count": 0, "reference_id": "MONDO:0010972" }, { "id": 12148, "label": "Potocki-Shaffer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 17316 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:34", "DOID:0111687", "GARD:0009762", "ICD9:758.39", "MEDGEN:318657", "MESH:C538356", "NCIT:C75456", "OMIM:601224", "Orphanet:52022", "SCTID:702346005", "UMLS:C1832588", "icd11.foundation:1587521558" ], "synonyms": [ "11p11.2 deletion", "Potocki-Shaffer syndrome", "proximal 11p deletion syndrome", "Defect11 syndrome", "PSS", "chromosome 11P11.2 deletion syndrome", "deletion of chromosome 11p11.2", "proximal 11P deletion syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)." }, "child_count": 0, "reference_id": "MONDO:0011022" }, { "id": 12364, "label": "Marshall-Smith syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 18360, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050858", "GARD:0006985", "ICD9:759.89", "MEDGEN:75551", "MESH:C536026", "OMIM:602535", "Orphanet:561", "SCTID:73284007", "UMLS:C0265211", "icd11.foundation:417951600" ], "synonyms": [ "Marshall-Smith syndrome", "accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome", "MRSHSS", "Marshall-SMITH syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth." }, "child_count": 0, "reference_id": "MONDO:0011244" }, { "id": 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": 12975, "label": "Noonan syndrome-like disorder with loose anagen hair", "isLeaf": false, "isRoot": false, "parents": [ 12041, 16088, 19780 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080691", "GARD:0010719", "MEDGEN:334697", "MESH:C564342", "NCIT:C178129", "OMIMPS:607721", "Orphanet:2701", "SCTID:723444009", "UMLS:C1843181" ], "synonyms": [ "NS/LAH", "Noonan syndrome-like disorder with loose anagen hair", "Tosti syndrome", "NSLH", "NSLH1", "Noonan syndrome-like disorder with loose anagen hair 1", "Noonan-like syndrome with loose anagen hair" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays." }, "child_count": 6, "reference_id": "MONDO:0011899" }, { "id": 13270, "label": "branchiogenic deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016648", "MEDGEN:322970", "MESH:C563780", "OMIM:609166", "Orphanet:50815", "SCTID:717944002", "UMLS:C1836673" ], "synonyms": [ "MC)garbanC)-Loiselet syndrome", "Mégarbané-Loiselet syndrome", "BRANCHIOGENIC-deafness syndrome" ], "definition": "Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." }, "child_count": 0, "reference_id": "MONDO:0012209" }, { "id": 14262, "label": "combined immunodeficiency with faciooculoskeletal anomalies", "isLeaf": true, "isRoot": false, "parents": [ 5658, 16088, 24683 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017139", "MEDGEN:442377", "MESH:C567641", "OMIM:613328", "Orphanet:221139", "UMLS:C2750068" ], "synonyms": [ "Roifman-Chitayat syndrome", "Roifman-Chitayat syndrome, digenic", "ROIFMAN-Chitayat syndrome", "combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia)." }, "child_count": 0, "reference_id": "MONDO:0013226" }, { "id": 14429, "label": "chromosome 1p32-p31 deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16088, 17308 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060409", "GARD:0017668", "MEDGEN:1636078", "Orphanet:401986", "SCTID:766766005", "UMLS:C4707828" ], "synonyms": [ "1p31p32 microdeletion syndrome", "Del(1)(p31p32)", "chromosome 1p32-p31 deletion syndrome", "monosomy 1p31p32", "BRMUTD", "brain malformations with or without urinary tract defects" ], "definition": "1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures." }, "child_count": 0, "reference_id": "MONDO:0013396" }, { "id": 14897, "label": "Malan overgrowth syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16088, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112102", "GARD:0013811", "MEDGEN:766574", "OMIM:614753", "Orphanet:420179", "SCTID:763795006", "UMLS:C3553660" ], "synonyms": [ "Sotos syndrome 2", "Sotos syndrome type 2", "Malan syndrome", "SOTOS2" ], "definition": "A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness." }, "child_count": 0, "reference_id": "MONDO:0013885" }, { "id": 15054, "label": "dysmorphism-conductive hearing loss-heart defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017328", "MEDGEN:767688", "OMIM:615102", "Orphanet:289553", "SCTID:763279007", "UMLS:C3554774" ], "synonyms": [ "TYSHCHENKO syndrome" ], "definition": "A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears." }, "child_count": 0, "reference_id": "MONDO:0014044" }, { "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": 16117, "label": "short stature-heart defect-craniofacial anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004739", "MEDGEN:419321", "MESH:C535871", "Orphanet:1088", "UMLS:C2931050" ], "synonyms": [ "Rommen-Mueller-Sybert syndrome", "Rommen Mueller Sybert syndrome", "short stature heart defect and craniofacial anomalies" ] }, "child_count": 0, "reference_id": "MONDO:0015206" }, { "id": 16126, "label": "arachnodactyly-intellectual disability-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000764", "MEDGEN:929699", "Orphanet:1130", "SCTID:720502000", "UMLS:C4304030" ], "synonyms": [ "De Die-Smulders-Vles-Fryns syndrome", "die Smulders Vles Fryns syndrome", "arachnodactyly - intellectual disability - dysmorphism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients." }, "child_count": 0, "reference_id": "MONDO:0015235" }, { "id": 16971, "label": "polyvalvular heart disease syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6967, 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020594", "MEDGEN:1376905", "Orphanet:228410", "SCTID:723448007", "UMLS:C4509918" ], "synonyms": [ "PHD syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." }, "child_count": 4, "reference_id": "MONDO:0016460" }, { "id": 17017, "label": "Kallmann syndrome-heart disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088, 16526 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018767", "MEDGEN:928566", "Orphanet:2326", "UMLS:C4302897" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome." }, "child_count": 0, "reference_id": "MONDO:0016515" }, { "id": 17243, "label": "Meier-Gorlin syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060306", "GARD:0002033", "MEDGEN:401501", "MESH:C538012", "MedDRA:10070612", "NORD:1077", "OMIMPS:224690", "Orphanet:2554", "UMLS:C1868684" ], "synonyms": [ "Meier-Gorlin syndrome", "ear-patella-short stature syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)." }, "child_count": 27, "reference_id": "MONDO:0016817" }, { "id": 17535, "label": "symptomatic form of Coffin-Lowry syndrome in female carriers", "isLeaf": true, "isRoot": false, "parents": [ 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021057", "MEDGEN:1814465", "Orphanet:276630", "UMLS:C5680787" ] }, "child_count": 0, "reference_id": "MONDO:0017193" }, { "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": 18580, "label": "contractures-developmental delay-Pierre Robin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088, 17323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021816", "MEDGEN:1805516", "Orphanet:436003", "UMLS:C5680042" ], "synonyms": [ "5q23 microdeletion syndrome" ] }, "child_count": 0, "reference_id": "MONDO:0018571" }, { "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": 18913, "label": "Noonan syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16088, 19154, 19780 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3490", "GARD:0010955", "ICD9:759.89", "MEDGEN:18073", "MESH:D009634", "MedDRA:10029748", "NANDO:1200680", "NANDO:2200413", "NCIT:C34854", "NORD:1513", "OMIMPS:163950", "Orphanet:648", "SCTID:205824006", "UMLS:C0028326", "icd11.foundation:1044395354" ], "synonyms": [ "Noonan syndrome", "Noonan's syndrome", "Noonan-Ehmke syndrome", "Ullrich-Noonan syndrome", "pseudo-Ullrich-Turner syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects." }, "child_count": 56, "reference_id": "MONDO:0018997" }, { "id": 18927, "label": "Carpenter syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2717, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060234", "GARD:0006003", "MEDGEN:226897", "NANDO:2200847", "NCIT:C98873", "NORD:897", "OMIMPS:201000", "Orphanet:65759", "SCTID:403767009", "UMLS:C1275078", "icd11.foundation:2132713612" ], "synonyms": [ "ACPS2", "Carpenter 's syndrome", "Carpenter syndrome", "acrocephalopolysyndactyly type 2", "acrocephalopolysyndactyly type II", "type II Acrocephalopolysyndactyly", "acrocephalosyndactyly, type II" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation." }, "child_count": 4, "reference_id": "MONDO:0019012" }, { "id": 18967, "label": "Bosley-Salih-Alorainy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 12225, 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016684", "MEDGEN:321908", "Orphanet:69737", "UMLS:C1832216", "icd11.foundation:1771217937" ], "synonyms": [ "BSAS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation." }, "child_count": 0, "reference_id": "MONDO:0019075" }, { "id": 19186, "label": "Sotos syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 17323, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:17", "DOID:0112103", "DOID:14748", "GARD:0010091", "MEDGEN:61232", "MESH:D058495", "MedDRA:10064387", "NANDO:1200679", "NANDO:2200953", "NCIT:C75019", "NORD:1727", "OMIM:117550", "OMIMPS:117550", "Orphanet:821", "SCTID:75968004", "UMLS:C0175695", "icd11.foundation:1887392960" ], "synonyms": [ "NSD1 Sotos syndrome", "Sotos syndrome", "Sotos syndrome 1", "Sotos syndrome caused by mutation in NSD1", "Sotos syndrome type 1", "Sotos' syndrome", "cerebral gigantism", "cerebral gigantism syndrome", "chromosome 5q35 deletion syndrome", "SOTOS1", "distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0019349" }, { "id": 19689, "label": "Robinow syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16088, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060254", "GARD:0000312", "MEDGEN:78535", "NCIT:C85048", "NORD:1673", "OMIMPS:268310", "Orphanet:97360", "UMLS:C0265205", "icd11.foundation:1010745722" ], "synonyms": [ "Robinow dwarfism", "Robinow-Silverman-Smith syndrome", "acral dysostosis with facial and genital abnormalities", "fetal face syndrome", "foetal face syndrome", "mesomelic dwarfism-small genitalia syndrome", "Covesdem syndrome (formerly)", "costovertebral segmentation defect with mesomelia (formerly)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." }, "child_count": 9, "reference_id": "MONDO:0019978" }, { "id": 19941, "label": "King-Denborough syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088, 23892 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008433", "MEDGEN:327082", "MESH:C536883", "MESH:C537504", "OMIM:619542", "Orphanet:99741", "SCTID:764957003", "UMLS:C1840365" ], "synonyms": [ "Koussef-Nichols syndrome", "King Denborough syndrome", "Kousseff Nichols syndrome", "Noonan like contracture myopathy hyperpyrexia", "anesthetic-induced malignant hyperpyrexia in children" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use." }, "child_count": 0, "reference_id": "MONDO:0020485" }, { "id": 22492, "label": "Weiss-Kruszka syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088, 16201 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027945", "MEDGEN:1799530", "OMIM:618619", "Orphanet:502430", "UMLS:C5568107" ], "synonyms": [ "WSKA", "Weiss-Kruszka syndrome", "ZNF462 disorder", "metopic ridging-ptosis-facial dysmorphism syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0032836" }, { "id": 23367, "label": "retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081175", "GARD:0017903", "MEDGEN:1615526", "OMIM:617763", "Orphanet:494439", "UMLS:C4540367" ], "synonyms": [ "retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome", "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0044634" }, { "id": 23380, "label": "omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6967, 16088, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010354", "Orphanet:496693" ], "synonyms": [ "Gershoni-Baruch syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044649" }, { "id": 23403, "label": "4q25 proximal deletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088, 17322 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022048", "MEDGEN:1814447", "Orphanet:502437", "UMLS:C5680087" ], "synonyms": [ "proximal del(4)(q25)", "proximal monosomy 4q25" ] }, "child_count": 0, "reference_id": "MONDO:0044717" }, { "id": 24796, "label": "restrictive dermopathy 1", "isLeaf": true, "isRoot": false, "parents": [ 16088, 20345, 22227 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070369", "GARD:0026425", "MEDGEN:1812447", "MESH:C536920", "OMIM:275210", "SCTID:400128006", "UMLS:C5676878" ], "synonyms": [ "restrictive dermopathy", "fetal hypokinesia sequence due to restrictive dermopathy", "foetal hypokinesia sequence due to restrictive dermopathy", "hyperkeratosis-contracture syndrome", "restrictive dermopathy 1, lethal", "tight skin contracture syndrome, lethal", "restrictive dermopathy, lethal" ], "definition": "A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34." }, "child_count": 0, "reference_id": "MONDO:0800042" }, { "id": 29224, "label": "mosaic SMO syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16088 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027231" ], "definition": "A somatic mosaic condition caused by a postzygotic mutation (c.1234 C>T p.Leu412Phe) in the SMO gene. Two overlapping clinical syndromes associated with this variant in SMO have been reported; Curry-Jones Syndrome (MIM:601707) and Happle-Tinschert Syndrome. The syndrome is characterized by cutaneous and skeletal manifestations such as linear hypo‐ or hyperpigmented lesions, basaloid follicular hamartomas, palmoplantar pitting, atrophoderma, hypertrichosis, polydactyly or syndactyly, rib anomalies (rudimentary ribs), and limb‐length anomalies. Craniofacial and dental abnormalities such as dysmorphic facies, macrocephaly, craniosynostosis, jaw tumors (ameloblastoma) have also been reported. Additional abnormalities impacting the gastrointestinal, cerebral, ophthalmic, and gonadal organs should also be considered. Some of these features include anal anomaly, colonic adenocarcinoma, severe constipation, myelofibrosis and smooth muscle hamartomas, malrotation, medulloblastoma, cerebral malformations, developmental delay, cataract, microphthalmia, coloboma, glaucoma, and cryptorchidism." }, "child_count": 2, "reference_id": "MONDO:1030005" } ], "roots": [ { "id": 18951, "label": "multiple congenital anomalies/dysmorphic syndrome" } ] }