{ "id": 19479, "label": "non-syndromic limb reduction defect", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019713", "properties": { "xrefs": [ "GARD:0019210", "MEDGEN:1842256", "Orphanet:93457", "UMLS:C5680277" ], "synonyms": [ "non-syndromic limb hypoplasia", "nonsyndromic limb reduction defect", "isolated limb reduction defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "isLeaf": false, "isRoot": false, "child_count": 40, "parents": [ { "id": 18360, "label": "skeletal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7061 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:98053", "Orphanet:364526", "UMLS:C0410528" ], "synonyms": [ "Mendelian skeletal dysplasia", "primary bone dysplasia", "primary osteodysplasia", "primary skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any Mendelian diseases that affects growth and development of the skeleton." }, "child_count": 238, "reference_id": "MONDO:0018230" } ], "children": [ { "id": 8480, "label": "adactylia, unilateral", "isLeaf": true, "isRoot": false, "parents": [ 18362, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000377", "MEDGEN:113098", "MESH:C562417", "OMIM:102650", "Orphanet:973", "UMLS:C0220660" ], "synonyms": [ "Adactyly of hand, unilateral", "adactylia unilateral", "adactylia, unilateral", "congenital absence/hypoplasia of fingers excluding thumb, unilateral", "digits 2-5 hypodactyly, unilateral", "digits 2-5 oligodactyly, unilateral", "terminal transverse defects of hand, unilateral" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced." }, "child_count": 0, "reference_id": "MONDO:0007062" }, { "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": 8737, "label": "clubfoot", "isLeaf": false, "isRoot": false, "parents": [ 16682, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11836", "ICD10CM:Q66.0", "ICD9:754.51", "MEDGEN:3130", "MESH:D003025", "NCIT:C84641", "OMIM:119800", "SCTID:397932003", "UMLS:C0009081" ], "synonyms": [ "club foot", "clubbed foot", "congenital talipes equinovarus", "equinovarus deformity of foot (finding)", "talipes", "talipes equinovarus", "CCF", "clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply." }, "child_count": 4, "reference_id": "MONDO:0007342" }, { "id": 8779, "label": "Cornelia de Lange syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 16671, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080505", "GARD:0024555", "ICD9:759.89", "MEDGEN:1645760", "OMIM:122470", "SCTID:40354009", "UMLS:C4551851" ], "synonyms": [ "Cornelia De Lange syndrome type 1", "Cornelia de Lange syndrome 1", "Cornelia de Lange syndrome caused by mutation in NIPBL", "NIPBL Cornelia de Lange syndrome", "Brachmann-De Lange syndrome", "CDLS1", "Cdl", "Cornelia DE Lange syndrome 1", "De Lange syndrome", "typus Degenerativus Amstelodamensis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene." }, "child_count": 0, "reference_id": "MONDO:0007387" }, { "id": 8973, "label": "femoral-facial syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000061", "ICD9:759.89", "MEDGEN:120523", "MESH:C537916", "NORD:1136", "OMIM:134780", "Orphanet:1988", "SCTID:13280000", "UMLS:C0265263", "icd11.foundation:505576809" ], "synonyms": [ "FFS", "FHUFS", "Femoral Facial Syndrome", "femoral facial syndrome", "femoral hypoplasia-unusual facies syndrome", "femoral-facial syndrome", "femoral dysgenesis, bilateral", "femoral hypoplasia unusual facies syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." }, "child_count": 0, "reference_id": "MONDO:0007604" }, { "id": 9084, "label": "Holt-Oram syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16089, 16946, 19479, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060468", "GARD:0006666", "ICD9:759.89", "MEDGEN:120524", "MESH:C535326", "MedDRA:10050469", "NCIT:C125592", "NORD:1248", "OMIM:142900", "Orphanet:392", "SCTID:19092004", "UMLS:C0265264", "icd11.foundation:1169240278" ], "synonyms": [ "atrio digital syndrome", "atrio-digital syndrome", "atriodigital dysplasia", "heart-hand syndrome", "HOLT-Oram syndrome", "HOS", "Holt Oram Syndrome", "Holt-Oram syndrome", "atriodigital dysplasia type 1", "heart-hand syndrome type 1", "Cardiac-limb syndrome", "HOS 1", "Hos1", "heart-hand syndrome, type 1", "ventriculo-radial syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." }, "child_count": 5, "reference_id": "MONDO:0007732" }, { "id": 9525, "label": "pelvis-shoulder dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016611", "MEDGEN:356991", "MESH:C566811", "OMIM:169550", "Orphanet:2839", "SCTID:719298001", "UMLS:C1868508" ], "synonyms": [ "Kosenow syndrome", "Scapuloiliac dysostosis", "pelvis-shoulder dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis." }, "child_count": 0, "reference_id": "MONDO:0008217" }, { "id": 9569, "label": "Poland syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16594, 18956, 19479, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12961", "GARD:0007412", "ICD9:756.89", "MEDGEN:10822", "MESH:D011045", "MedDRA:10036007", "NCIT:C85017", "NORD:1587", "OMIM:173800", "Orphanet:2911", "SCTID:38371006", "UMLS:C0032357", "icd11.foundation:1364451323" ], "synonyms": [ "Poland anomaly", "Poland sequence", "Poland syndrome", "Poland syndactyly", "Poland's syndrome", "pectoralis muscle, absence of", "unilateral defect of pectoralis muscle and syndactyly of the hand" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0002657", "name": "breast disorder" } ], "definition": "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly." }, "child_count": 0, "reference_id": "MONDO:0008262" }, { "id": 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": 9841, "label": "thrombocythemia 1", "isLeaf": true, "isRoot": false, "parents": [ 18995, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024630", "MEDGEN:479301", "OMIM:187950", "UMLS:C3277671" ], "synonyms": [ "thrombocythemia 1", "thrombocythemia type 1", "thrombocythemia, somatic", "THCYT1", "thrombocytosis 1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008554" }, { "id": 9859, "label": "tibia, hypoplasia or aplasia of, with polydactyly", "isLeaf": true, "isRoot": false, "parents": [ 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111564", "GARD:0008309", "MEDGEN:348786", "MESH:C535564", "MESH:C566046", "OMIM:188740", "Orphanet:3332", "Orphanet:988", "SCTID:716741008", "UMLS:C1861098" ], "synonyms": [ "absent tibia-polydactyly syndrome", "hypoplastic tibiae-postaxial polydactyly syndrome", "tibia, hypoplasia or aplasia of, with polydactyly", "THYP", "absence of tibia with polydactyly", "polydactyly with absent tibia", "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia", "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones." }, "child_count": 0, "reference_id": "MONDO:0008572" }, { "id": 9973, "label": "acheiropody", "isLeaf": true, "isRoot": false, "parents": [ 7171, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050603", "GARD:0000376", "MEDGEN:120547", "MESH:C536014", "OMIM:200500", "Orphanet:931", "SCTID:177504007", "UMLS:C0265559" ], "synonyms": [ "acheiropodia", "acheiropody", "ACHP", "acheiropody, Brazilian type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." }, "child_count": 0, "reference_id": "MONDO:0008700" }, { "id": 10458, "label": "Fanconi anemia complementation group A", "isLeaf": true, "isRoot": false, "parents": [ 19221, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111095", "GARD:0015170", "GTR:AN1051558", "MEDGEN:483333", "NCIT:C125702", "OMIM:227650", "UMLS:C3469521" ], "synonyms": [ "FANCA", "FANCA Fanconi anaemia", "FANCA Fanconi anemia", "Fanconi Anemia, complementation group type a", "Fanconi anaemia caused by mutation in FANCA", "Fanconi anaemia complementation group type A", "Fanconi anemia caused by mutation in FANCA", "Fanconi anemia complementation group A", "Fanconi anemia complementation group type A", "Estren-Dameshek variant of Fanconi Anaemia", "Estren-Dameshek variant of Fanconi Anemia", "Estren-Dameshek variant of Fanconi pancytopenia", "Fanconi Anaemia", "Fanconi Anemia", "Fanconi Anemia, Estren-Dameshek variant", "Fanconi anemia, complementation group A" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway." }, "child_count": 0, "reference_id": "MONDO:0009215" }, { "id": 10464, "label": "femur-fibula-ulna complex", "isLeaf": true, "isRoot": false, "parents": [ 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002286", "MEDGEN:347305", "MESH:C537918", "MedDRA:10068448", "OMIM:228200", "Orphanet:2019", "UMLS:C1856790", "icd11.foundation:353892894" ], "synonyms": [ "FFU complex", "PFFD", "femur-fibula-ulna dysostosis", "femur-fibula-ulna syndrome", "Ffu syndrome", "femur fibula ulna syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal." }, "child_count": 0, "reference_id": "MONDO:0009221" }, { "id": 10465, "label": "Gollop-Wolfgang complex", "isLeaf": true, "isRoot": false, "parents": [ 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061175", "GARD:0002285", "MEDGEN:341622", "MESH:C537917", "OMIM:228250", "Orphanet:1986", "SCTID:716006003", "UMLS:C1856789" ], "synonyms": [ "Gollop-Wolfgang complex", "bifid femur-monodactylous ectrodactyly syndrome", "GWC", "femur bifid with monodactylous ectrodactyly", "femur, unilateral bifid, with monodactylous ectrodactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur." }, "child_count": 0, "reference_id": "MONDO:0009222" }, { "id": 10475, "label": "Fuhrmann syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090067", "GARD:0002410", "MEDGEN:346429", "MESH:C538189", "OMIM:228930", "Orphanet:2854", "SCTID:721296004", "UMLS:C1856728" ], "synonyms": [ "Fuhrmann syndrome", "Fuhrmann-Rieger-de Sousa syndrome", "fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome", "bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies", "fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly." }, "child_count": 0, "reference_id": "MONDO:0009232" }, { "id": 10750, "label": "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002622", "MEDGEN:340887", "MESH:C565436", "OMIM:246570", "Orphanet:480773", "UMLS:C1855499" ], "synonyms": [ "FATCO syndrome", "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome", "fibular aplasia-tibial campomelia-oligosyndactyly syndrome", "terminal transverse defects of the limbs associated with congenital heart malformations", "limb deficiency-heart malformation syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009526" }, { "id": 11048, "label": "pelviscapular dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001555", "MEDGEN:342400", "MESH:C535550", "OMIM:260660", "Orphanet:93333", "SCTID:719299009", "UMLS:C1850040" ], "synonyms": [ "Cousin syndrome", "familial pelvis-scapular dysplasia", "pelviscapular dysplasia", "COUSIN syndrome", "craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature", "craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009845" }, { "id": 11156, "label": "rapadilino syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16089, 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050774", "GARD:0004637", "ICD9:759.89", "MEDGEN:336602", "MESH:C535288", "NANDO:1201058", "OMIM:266280", "Orphanet:3021", "SCTID:702413000", "UMLS:C1849453", "icd11.foundation:1439614760" ], "synonyms": [ "rapadilino syndrome", "absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate", "radial and patellar aplasia", "radial and patellar hypoplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence." }, "child_count": 0, "reference_id": "MONDO:0009955" }, { "id": 11305, "label": "thrombocytopenia-absent radius syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 10564, 18362, 18746, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:64", "DOID:14699", "GARD:0005116", "ICD9:759.89", "MEDGEN:61235", "MESH:C536940", "MedDRA:10071719", "NANDO:2200661", "NCIT:C99038", "NORD:1768", "OMIM:274000", "Orphanet:3320", "SCTID:85589009", "UMLS:C0175703" ], "synonyms": [ "1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome", "TAR syndrome", "Thrombocytopenia Absent Radius Syndrome", "radial aplasia-thrombocytopenia syndrome", "thrombocytopenia-absent radius syndrome", "TAR", "Tar syndrome", "absent radii and thrombocytopenia", "chromosome 1Q21.1 deletion syndrome, 200-Kb", "thrombocytopenia absent radii", "thrombocytopenia absent radius syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia." }, "child_count": 0, "reference_id": "MONDO:0010121" }, { "id": 11346, "label": "phocomelia, Schinzel type", "isLeaf": true, "isRoot": false, "parents": [ 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112181", "GARD:0009212", "MEDGEN:336388", "MESH:C535612", "OMIM:276820", "Orphanet:2879", "SCTID:715522000", "UMLS:C1848651", "icd11.foundation:1732271544" ], "synonyms": [ "Al Awadi-Raas-Rothschild syndrome", "aplasia/hypoplasia of limbs and pelvis", "congenital absence of ulna and fibula", "severe limb deficit", "AARRS", "Al Awadi Teebi Farag syndrome", "Al-Awadi-Raas-Rothschild syndrome", "Al-Awadi/Raas-Rothschild syndrome", "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome", "Schinzel phocomelia syndrome", "Teebi Naguib Al Awadi syndrome", "absence of ulna and fibula with severe limb deficiency", "limb/pelvis-hypoplasia/aplasia syndrome", "profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence", "ulna and fibula absence of with severe limb deficiency", "ulna and fibula, absence of, with severe limb deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder." }, "child_count": 0, "reference_id": "MONDO:0010164" }, { "id": 11535, "label": "Cornelia de Lange syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 16671, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080506", "GARD:0015259", "MEDGEN:315658", "NCIT:C75485", "OMIM:300590", "UMLS:C1802395" ], "synonyms": [ "Cornelia De Lange syndrome type 2", "Cornelia de Lange syndrome 2", "Cornelia de Lange syndrome 2, X-linked dominant", "Cornelia de Lange syndrome caused by mutation in SMC1A", "SMC1A Cornelia de Lange syndrome", "X-linked Cornelia De Lange syndrome", "CDLS2", "Cdls, X-linked", "Cornelia DE Lange syndrome 2", "Cornelia De Lange syndrome, X-linked" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation." }, "child_count": 0, "reference_id": "MONDO:0010370" }, { "id": 11629, "label": "Cornelia de Lange syndrome 5", "isLeaf": true, "isRoot": false, "parents": [ 16671, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080509", "GARD:0015271", "MEDGEN:763817", "OMIM:300882", "UMLS:C3550903" ], "synonyms": [ "Cornelia De Lange syndrome type 5", "Cornelia de Lange syndrome 5", "Cornelia de Lange syndrome 5, X-linked dominant", "CDLS5", "Cornelia DE Lange syndrome 5" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0010471" }, { "id": 12893, "label": "Duane-radial ray syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060747", "GARD:0009182", "ICD9:759.89", "MEDGEN:301647", "OMIM:607323", "Orphanet:93293", "Orphanet:959", "SCTID:699867001", "SCTID:720415006", "UMLS:C1623209" ], "synonyms": [ "DR syndrome", "DRRS", "Duane anomaly with radial ray abnormalities and deafness", "Duane-radial ray syndrome", "Okihiro syndrome", "acro-renal-ocular syndrome", "Duane anomaly with radial abnormalities and deafness" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant." }, "child_count": 10, "reference_id": "MONDO:0011812" }, { "id": 13603, "label": "Cornelia de Lange syndrome 3", "isLeaf": true, "isRoot": false, "parents": [ 16671, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080507", "GARD:0015499", "MEDGEN:339902", "OMIM:610759", "UMLS:C1853099" ], "synonyms": [ "Cornelia De Lange syndrome type 3", "Cornelia de Lange syndrome 3", "Cornelia de Lange syndrome caused by mutation in SMC3", "Cornelia de Lange syndrome caused by mutation in Smc3", "SMC3 Cornelia de Lange syndrome", "Smc3 Cornelia de Lange syndrome", "CDLS3", "Cornelia DE Lange syndrome 3" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene." }, "child_count": 0, "reference_id": "MONDO:0012555" }, { "id": 13984, "label": "chromosome 17P13.3, telomeric, duplication syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18215, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015572", "MEDGEN:390813", "MESH:C567245", "OMIM:612576", "UMLS:C2675492" ], "synonyms": [ "chromosome 17P13.3, telomeric, duplication syndrome", "split-hand/foot malformation with long bone deficiency 3" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012944" }, { "id": 14660, "label": "Adams-Oliver syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 8453, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015775", "MEDGEN:481812", "OMIM:614219", "UMLS:C3280182" ], "synonyms": [ "Adams-Oliver syndrome 2", "Adams-Oliver syndrome caused by mutation in DOCK6", "Adams-Oliver syndrome type 2", "DOCK6 Adams-Oliver syndrome", "AOS2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene." }, "child_count": 0, "reference_id": "MONDO:0013635" }, { "id": 14876, "label": "Cornelia de Lange syndrome 4", "isLeaf": true, "isRoot": false, "parents": [ 16671, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080508", "GARD:0015837", "MEDGEN:766431", "OMIM:614701", "UMLS:C3553517" ], "synonyms": [ "Cornelia De Lange syndrome type 4", "Cornelia de Lange syndrome 4", "Cornelia de Lange syndrome caused by mutation in RAD21", "RAD21 Cornelia de Lange syndrome", "CDLS4", "Cornelia DE Lange syndrome 4" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene." }, "child_count": 0, "reference_id": "MONDO:0013864" }, { "id": 14907, "label": "Adams-Oliver syndrome 3", "isLeaf": true, "isRoot": false, "parents": [ 8453, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061179", "GARD:0015842", "MEDGEN:766662", "OMIM:614814", "UMLS:C3553748" ], "synonyms": [ "Adams-Oliver syndrome 3", "Adams-Oliver syndrome caused by mutation in RBPJ", "Adams-Oliver syndrome type 3", "RBPJ Adams-Oliver syndrome", "AOS3" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene." }, "child_count": 0, "reference_id": "MONDO:0013895" }, { "id": 15132, "label": "Adams-Oliver syndrome 4", "isLeaf": true, "isRoot": false, "parents": [ 8453, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015941", "MEDGEN:815422", "OMIM:615297", "UMLS:C3809092" ], "synonyms": [ "Adams-Oliver syndrome 4", "Adams-Oliver syndrome caused by mutation in EOGT", "Adams-Oliver syndrome type 4", "EOGT Adams-Oliver syndrome", "AOS4" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene." }, "child_count": 0, "reference_id": "MONDO:0014124" }, { "id": 15459, "label": "Adams-Oliver syndrome 5", "isLeaf": true, "isRoot": false, "parents": [ 8453, 19479, 29323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016049", "MEDGEN:863407", "OMIM:616028", "UMLS:C4014970" ], "synonyms": [ "AOS5", "Adams-Oliver syndrome 5", "Adams-Oliver syndrome caused by mutation in NOTCH1", "Adams-Oliver syndrome caused by mutation in Notch1", "Adams-Oliver syndrome type 5" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene." }, "child_count": 0, "reference_id": "MONDO:0014459" }, { "id": 15697, "label": "Adams-Oliver syndrome 6", "isLeaf": true, "isRoot": false, "parents": [ 8453, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016142", "MEDGEN:908556", "OMIM:616589", "UMLS:C4225271" ], "synonyms": [ "Adams-Oliver syndrome 6", "Adams-Oliver syndrome caused by mutation in DLL4", "Adams-Oliver syndrome type 6", "DLL4 Adams-Oliver syndrome", "AOS6" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene." }, "child_count": 0, "reference_id": "MONDO:0014703" }, { "id": 16670, "label": "femoral agenesis/hypoplasia", "isLeaf": false, "isRoot": false, "parents": [ 18362, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001503", "ICD9:755.34", "MEDGEN:87499", "Orphanet:1987", "SCTID:93255008", "UMLS:C0345375", "icd11.foundation:662157487" ], "synonyms": [ "congenital short femur", "femoral intercalary meromelia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." }, "child_count": 4, "reference_id": "MONDO:0016032" }, { "id": 16814, "label": "hemimelia", "isLeaf": false, "isRoot": false, "parents": [ 18362, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018761", "MEDGEN:9194", "MedDRA:10019464", "NCIT:C34674", "Orphanet:2130", "SCTID:33076008", "UMLS:C0018987" ], "synonyms": [ "longitudinal meromelia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity." }, "child_count": 10, "reference_id": "MONDO:0016240" }, { "id": 17724, "label": "non-syndromic amelia", "isLeaf": false, "isRoot": false, "parents": [ 18362, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021179", "HP:0009827", "MEDGEN:8014", "MedDRA:10001926", "NCIT:C34370", "Orphanet:294925", "SCTID:62588002", "UMLS:C0002447" ], "synonyms": [ "amelia", "nonsyndromic amelia", "isolated amelia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A congenital malformation characterized by the complete absence of all limbs." }, "child_count": 6, "reference_id": "MONDO:0017419" }, { "id": 17734, "label": "humeral agenesis/hypoplasia", "isLeaf": false, "isRoot": false, "parents": [ 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021192", "MEDGEN:672328", "Orphanet:294973", "UMLS:C0685375", "icd11.foundation:1431381856" ], "synonyms": [ "congenital absence of humerus", "congenital hypoplasia of humerus", "humeral intercalary meromelia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist." }, "child_count": 2, "reference_id": "MONDO:0017440" }, { "id": 21458, "label": "Adams-Oliver syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 8453, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025406", "MEDGEN:1635567", "OMIM:100300", "UMLS:C4551482" ], "synonyms": [ "AOS1", "ARHGAP31 Adams-Oliver syndrome", "Adams-Oliver syndrome 1", "Adams-Oliver syndrome caused by mutation in ARHGAP31", "AOS", "absence defect of limbs, scalp, and skull", "aplasia cutis congenita with terminal transverse limb defects", "aplasia cutis congenita, congenital heart defect, and frontonasal cysts", "congenital scalp defects with distal limb reduction anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene." }, "child_count": 0, "reference_id": "MONDO:0024506" }, { "id": 23740, "label": "tetraamelia syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 11296, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112193", "GARD:0016286", "MEDGEN:1648284", "OMIM:618021", "UMLS:C4747923" ], "synonyms": [ "tetraamelia syndrome 2", "TETAMS2", "tetraamelia syndrome 2 with pulmonary agenesis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060732" }, { "id": 23749, "label": "tetraamelia syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 11296, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112192", "GARD:0015238", "MEDGEN:860705", "OMIM:273395", "UMLS:C4012268" ], "synonyms": [ "tetraamelia syndrome 1", "TETAMS1", "tetraamelia syndrome, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060764" }, { "id": 23991, "label": "Roberts-SC phocomelia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050536", "DOID:5325", "GARD:0007387", "MEDGEN:95931", "MESH:C535687", "NCIT:C4681", "OMIM:268300", "OMIM:269000", "Orphanet:3103", "SCTID:48718006", "UMLS:C0392475" ], "synonyms": [ "Appelt-Gerken-Lenz syndrome", "ESCO2 spectrum disorder", "RBS", "Roberts syndrome", "Roberts syndrome/SC phocomelia", "Roberts tetraphocomelia syndrome", "Roberts-SC phocomelia syndrome", "SC phocomelia syndrome", "hypomelia hypotrichosis facial hemangioma syndrome", "long bone deficiencies associated with cleft lip-palate", "phocomelia-pseudothalidomide syndrome", "pseudothalidomide syndrome", "tetraphocomelia-cleft palate syndrome", "SC phocomelia", "SC phocomelia syndrome (mild variant of Roberts syndrome)", "SC pseudothalidomide syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities." }, "child_count": 0, "reference_id": "MONDO:0100253" } ], "roots": [ { "id": 18360, "label": "skeletal dysplasia" } ] }