{ "id": 24804, "label": "polydactyly-syndactyly-triphalangism", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0800066", "properties": { "xrefs": [ "GARD:0026428" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two." }, "isLeaf": false, "isRoot": false, "child_count": 28, "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" }, { "id": 20258, "label": "syndactyly", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6893, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11193", "HP:0001159", "ICD10CM:Q70", "ICD9:755.1", "MEDGEN:52619", "MESH:D013576", "MedDRA:10042778", "UMLS:C0039075" ], "synonyms": [ "syndactyly (disease)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms." }, "child_count": 6, "reference_id": "MONDO:0021002" }, { "id": 20259, "label": "polydactyly", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6893, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1148", "HP:0010442", "ICD10CM:Q69", "ICD10WHO:Q69", "ICD9:755.0", "ICD9:755.00", "MEDGEN:57774", "MESH:D017689", "MedDRA:10036063", "NCIT:C87110", "OMIM:603596", "SCTID:367506006", "UMLS:C0152427" ], "synonyms": [ "hyperdactyly", "polydactylism", "polydactyly", "polydactyly (disease)", "postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." }, "child_count": 6, "reference_id": "MONDO:0021003" } ], "children": [ { "id": 8477, "label": "Acropectorovertebral dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 16618, 24804 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000512", "MEDGEN:400262", "MESH:C566319", "OMIM:102510", "Orphanet:957", "SCTID:720457000", "UMLS:C1863307", "icd11.foundation:1013313909" ], "synonyms": [ "Acropectorovertebral dysplasia", "F syndrome", "ACRPV", "Acropectorovertebral dysplasia F form" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones)." }, "child_count": 0, "reference_id": "MONDO:0007058" }, { "id": 8981, "label": "laurin-Sandrow syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18956, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111350", "GARD:0000155", "MEDGEN:340697", "MESH:C535689", "OMIM:135750", "Orphanet:2378", "SCTID:715440003", "UMLS:C1851100", "icd11.foundation:671594481" ], "synonyms": [ "Sandrow syndrome", "laurin-Sandrow syndrome", "mirror hands and feets-nasal defects syndrome", "LSS", "fibula and ulna, Duplication of, with absence of tibia and radius", "fibula ulna duplication tibia radius absence", "laurin Sandrow syndrome", "laurin-Sandrow syndrome, segmental", "mirror hands and feet with nasal defects", "mirror-Image polydactyly", "tetramelic mirror-Image polydactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested." }, "child_count": 0, "reference_id": "MONDO:0007615" }, { "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": 9208, "label": "LADD syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16089, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050331", "DOID:0081370", "GARD:0006848", "ICD9:759.89", "MEDGEN:78545", "MESH:C538132", "NORD:1345", "OMIMPS:149730", "Orphanet:2363", "SCTID:23817003", "UMLS:C0265269" ], "synonyms": [ "LACRIMOAURICULODENTODIGITAL syndrome", "LADD syndrome", "Lacrimo-auriculo-dento-digital syndrome", "Lacrimoauriculodento-digital syndrome", "Lacrimoauriculoradiodental syndrome", "Levy Hollister syndrome", "Levy-Hollister syndrome", "lacrimoauriculodentodigital syndrome", "lard syndrome", "LADD" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations." }, "child_count": 9, "reference_id": "MONDO:0007872" }, { "id": 9576, "label": "polydactyly of a biphalangeal thumb", "isLeaf": false, "isRoot": false, "parents": [ 17726, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060987", "GARD:0004417", "MEDGEN:237235", "MESH:C536332", "OMIM:174400", "Orphanet:93339", "SCTID:445216006", "UMLS:C1395852" ], "synonyms": [ "PPD1", "polydactyly, preaxial type 1", "preaxial polydactyly type 1", "Fromont anomaly", "polydactyly preaxial 1", "polydactyly, preaxial 1", "polydactyly, preaxial I", "preaxial polydactyly 1", "thenar hypoplasia", "thumb polydactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." }, "child_count": 4, "reference_id": "MONDO:0008269" }, { "id": 9578, "label": "polydactyly of an index finger", "isLeaf": false, "isRoot": false, "parents": [ 17726, 24804 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002256", "MEDGEN:357422", "MESH:C566784", "OMIM:174600", "Orphanet:93337", "SCTID:723446006", "UMLS:C1868113", "icd11.foundation:982050714" ], "synonyms": [ "PPD3", "polydactyly, preaxial type 3", "preaxial polydactyly type 3", "index finger polydactyly", "polydactyly, preaxial 3", "polydactyly, preaxial III" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962." }, "child_count": 4, "reference_id": "MONDO:0008271" }, { "id": 9579, "label": "polysyndactyly 4", "isLeaf": false, "isRoot": false, "parents": [ 3103, 12458, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060985", "GARD:0009903", "ICD9:755.10", "MEDGEN:357420", "MedDRA:10063143", "OMIM:174700", "Orphanet:93338", "UMLS:C1868111", "icd11.foundation:973656080" ], "synonyms": [ "PPD4", "polydactyly, preaxial type 4", "polydactyly, preaxial, type IV", "preaxial polydactyly type 4", "crossed polydactyly type 1", "crossed polydactyly, type 1", "polydactyly preaxial 4", "polydactyly, preaxial 4", "polydactyly, preaxial IV", "polysyndactyly uncomplicated", "polysyndactyly, uncomplicated", "preaxial polydactyly 4" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Preaxial polydactyly characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx, occasional syndactyly of various degrees of third-and-fourth fingers, and duplication of part or all of the first or second toes and syndactyly." }, "child_count": 6, "reference_id": "MONDO:0008272" }, { "id": 9593, "label": "Greig cephalopolysyndactyly syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14761", "GARD:0006550", "MEDGEN:120531", "MESH:C537300", "MedDRA:10053878", "NCIT:C35255", "NORD:1206", "OMIM:175700", "Orphanet:380", "SCTID:32985001", "UMLS:C0265306", "icd11.foundation:606500237" ], "synonyms": [ "GCPS", "Greig cephalopolysyndactyly syndrome", "Greig cephalosyndactyly syndrome", "Greig's syndrome", "Greig syndrome", "polysyndactyly with peculiar skull Shape" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." }, "child_count": 2, "reference_id": "MONDO:0008287" }, { "id": 9803, "label": "syndactyly type 1", "isLeaf": false, "isRoot": false, "parents": [ 17368, 19340, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111816", "GARD:0005081", "MEDGEN:348343", "OMIM:185900", "Orphanet:93402", "SCTID:715723008", "UMLS:C1861380", "icd11.foundation:1841508645" ], "synonyms": [ "SDTY1", "Sd1", "Zygodactyly", "chromosome 2q35 DUPLICATION syndrome", "craniosynostosis, Philadelphia type", "syndactyly, type 1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes." }, "child_count": 12, "reference_id": "MONDO:0008512" }, { "id": 9804, "label": "synpolydactyly type 1", "isLeaf": true, "isRoot": false, "parents": [ 3103, 12458, 24804 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017358", "MEDGEN:1809573", "OMIM:186000", "Orphanet:295195", "UMLS:C5574994", "icd11.foundation:1701170393" ], "synonyms": [ "HOXD13 non-syndromic synpolydactyly", "SD2, Vordingborg type", "SD2a", "SPD, Vordingborg type", "SPD1", "non-syndromic synpolydactyly caused by mutation in HOXD13", "synpolydactyly type 1", "synpolydactyly, Vordingborg type", "syndactyly, type 2", "synpolydactyly 1", "synpolydactyly with foot anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene." }, "child_count": 0, "reference_id": "MONDO:0008513" }, { "id": 9805, "label": "syndactyly type 3", "isLeaf": true, "isRoot": false, "parents": [ 19340, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111817", "GARD:0005088", "MEDGEN:396117", "MESH:C538154", "OMIM:186100", "Orphanet:93404", "SCTID:715725001", "UMLS:C1861366", "icd11.foundation:144846004" ], "synonyms": [ "GJA1 non-syndromic syndactyly", "SD3", "non-syndromic syndactyly caused by mutation in GJA1", "syndactyly of fingers 4 and 5", "Ring and Little finger syndactyly", "Sdty3", "syndactyly of fingers four and five", "syndactyly of the ring and little finger", "syndactyly, type 3", "syndactyly, type III" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." }, "child_count": 0, "reference_id": "MONDO:0008514" }, { "id": 9806, "label": "syndactyly type 4", "isLeaf": true, "isRoot": false, "parents": [ 19340, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111818", "GARD:0004434", "MEDGEN:350013", "MESH:C566092", "OMIM:186200", "Orphanet:93405", "SCTID:719158007", "UMLS:C1861355", "icd11.foundation:75755208" ], "synonyms": [ "LMBR1 non-syndromic syndactyly", "non-syndromic syndactyly caused by mutation in LMBR1", "polysyndactyly, Haas type", "Haas type syndactyly", "SDTY4", "Sd4", "polysyndactyly type Haas", "syndactyly, type 4", "syndactyly, type IV" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5)." }, "child_count": 0, "reference_id": "MONDO:0008515" }, { "id": 9807, "label": "syndactyly type 5", "isLeaf": true, "isRoot": false, "parents": [ 19340, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111819", "GARD:0005089", "MEDGEN:350010", "MESH:C538155", "OMIM:186300", "Orphanet:93406", "SCTID:719159004", "UMLS:C1861348", "icd11.foundation:283224140" ], "synonyms": [ "SD5", "postaxial syndactyly with metacarpal synostosis", "SDTY5", "syndactyly with associated metacarpal and metatarsal fusion", "syndactyly with metacarpal and metatarsal fusion", "syndactyly, type 5", "syndactyly, type V" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." }, "child_count": 0, "reference_id": "MONDO:0008516" }, { "id": 9981, "label": "acrocallosal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 24804, 25049 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9250", "GARD:0005721", "MEDGEN:162915", "MESH:D055673", "NCIT:C84531", "OMIM:200990", "Orphanet:36", "SCTID:715951007", "UMLS:C0796147", "icd11.foundation:1286493807" ], "synonyms": [ "ACLS", "ACS", "Schinzel acrocallosal syndrome", "Schinzel syndrome 1", "acrocallosal syndrome", "Joubert syndrome 12", "Joubert syndrome 12/15, digenic", "absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly", "acrocallosal syndrome, Schinzel type", "hallux Duplication, postaxial polydactyly, and absence of corpus callosum" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0008708" }, { "id": 10193, "label": "Cenani-Lenz syndactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18956, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090015", "GARD:0005084", "MEDGEN:395226", "MESH:C538150", "OMIM:212780", "Orphanet:3258", "SCTID:720633009", "UMLS:C1859309" ], "synonyms": [ "Cenani syndactyly", "Cenani-Lenz syndactyly", "Cenani-Lenz syndactyly syndrome", "syndactyly type 7", "CLSS", "Cenani syndactylism", "Cenani-Lenz syndrome", "Cenani-Lenz type syndactyly", "syndactyly Cenani Lenz type", "syndactyly, type 7" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." }, "child_count": 0, "reference_id": "MONDO:0008931" }, { "id": 10792, "label": "Meckel syndrome, type 1", "isLeaf": true, "isRoot": false, "parents": [ 18845, 24804, 29291 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070115", "GARD:0024681", "MEDGEN:811346", "MESH:C536133", "OMIM:249000", "UMLS:C3714506" ], "synonyms": [ "MKS1", "MKS1 Meckel syndrome", "Meckel syndrome caused by mutation in MKS1", "Meckel syndrome, type 1", "Meckel-Gruber syndrome, type 1", "Dysencephalia Splanchnocystica", "Dysencephalia splachnocystica", "Gruber syndrome", "MKS", "Meckel Gruber syndrome", "Meckel syndrome", "Meckel syndrome 1", "Meckel syndrome type1", "Meckel-Gruber syndrome", "Mes" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene." }, "child_count": 0, "reference_id": "MONDO:0009571" }, { "id": 11279, "label": "Filippi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112194", "GARD:0000062", "MEDGEN:163197", "MESH:C538152", "NORD:1149", "OMIM:272440", "Orphanet:3255", "SCTID:720954000", "UMLS:C0795940", "icd11.foundation:1989471300" ], "synonyms": [ "Filippi syndrome", "type 1 syndactyly-microcephaly-intellectual disability syndrome", "FILIPPI syndrome", "FLPIS", "Scott craniodigital syndrome with intellectual disability", "Scott craniodigital syndrome with mental retardation", "syndactyly type I with microcephaly and intellectual disability", "syndactyly type I with microcephaly and mental retardation", "syndactyly, type I, with microcephaly and intellectual disability", "syndactyly, type I, with microcephaly and mental retardation", "unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly", "unusual facial appearance, microcephaly, growth and mental retardation and syndactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0010092" }, { "id": 11569, "label": "syndactyly-telecanthus-anogenital and renal malformations syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 18956, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111931", "GARD:0010295", "MEDGEN:394424", "MESH:C567475", "OMIM:300707", "Orphanet:140952", "SCTID:723581006", "UMLS:C2678045" ], "synonyms": [ "STAR syndrome", "STAR syndrome, X-linked dominant", "syndactyly-telecanthus-anogenital and renal malformations syndrome", "STAR", "Star syndrome", "syndactyly with renal and anogenital malformations", "syndactyly, telecanthus, anogenital and renal malformations", "toe syndactyly, telecanthus, and anogenital and renal malformations", "toe syndactyly, telecanthus, anogenital and renal malformations" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." }, "child_count": 0, "reference_id": "MONDO:0010408" }, { "id": 12412, "label": "Meckel syndrome, type 2", "isLeaf": true, "isRoot": false, "parents": [ 18845, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070116", "GARD:0008743", "MEDGEN:351059", "MESH:C536131", "OMIM:603194", "UMLS:C1864148" ], "synonyms": [ "MKS2", "Meckel syndrome caused by mutation in TMEM216", "Meckel syndrome, type 2", "Meckel-Gruber syndrome, type 2", "TMEM216 Meckel syndrome", "Meckel syndrome 2", "Meckel syndrome type 2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene." }, "child_count": 0, "reference_id": "MONDO:0011296" }, { "id": 12717, "label": "acropectoral syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18956, 24804 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008485", "MEDGEN:342975", "MESH:C535664", "OMIM:605967", "Orphanet:85203", "SCTID:720412009", "UMLS:C1853812", "icd11.foundation:1060723089" ], "synonyms": [ "ACRP syndrome", "acropectoral syndrome", "syndactyly-preaxial polydactyly-sternal deformity syndrome", "ACRPS", "Dundar Acropectoral syndrome", "acro-pectoral syndrome", "syndactyly, preaxial polydactyly and sternal deformity", "syndactyly, preaxial polydactyly, and sternal deformity" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36." }, "child_count": 0, "reference_id": "MONDO:0011621" }, { "id": 12902, "label": "Meckel syndrome, type 3", "isLeaf": true, "isRoot": false, "parents": [ 18845, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070117", "GARD:0008744", "MEDGEN:335402", "MESH:C536132", "OMIM:607361", "UMLS:C1846357" ], "synonyms": [ "MKS3", "Meckel syndrome caused by mutation in TMEM67", "Meckel syndrome, type 3", "Meckel-Gruber syndrome, type 3", "TMEM67 Meckel syndrome", "Meckel syndrome 3", "Meckel syndrome type 3" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene." }, "child_count": 0, "reference_id": "MONDO:0011821" }, { "id": 13055, "label": "synpolydactyly type 2", "isLeaf": true, "isRoot": false, "parents": [ 3103, 12458, 24804 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017359", "MEDGEN:331290", "MESH:C564278", "OMIM:608180", "Orphanet:295197", "UMLS:C1842422", "icd11.foundation:1370014661" ], "synonyms": [ "SD2, Debeer type", "SD2b", "SPD, Debeer type", "SPD2", "synpolydactyly type 2", "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses", "synpolydactyly, Debeer type", "synpolydactyly 2", "synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011984" }, { "id": 13330, "label": "mesoaxial synostotic syndactyly with phalangeal reduction", "isLeaf": true, "isRoot": false, "parents": [ 19340, 24804 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010590", "MEDGEN:324459", "MESH:C563721", "OMIM:609432", "Orphanet:157801", "SCTID:724170007", "UMLS:C1836206" ], "synonyms": [ "MSSD", "syndactyly type 9", "syndactyly, Malik-Percin type", "syndactyly Malik-Percin type", "syndactyly mesoaxial synostotic with phalangeal reduction", "syndactyly, mesoaxial synostotic, with phalangeal reduction", "syndactyly, type 9" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." }, "child_count": 0, "reference_id": "MONDO:0012271" }, { "id": 13672, "label": "Meckel syndrome, type 4", "isLeaf": true, "isRoot": false, "parents": [ 18845, 24178, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070118", "GARD:0015509", "MEDGEN:410003", "OMIM:611134", "UMLS:C1970161" ], "synonyms": [ "CEP290 Meckel syndrome", "MKS4", "Meckel syndrome caused by mutation in CEP290", "Meckel syndrome, type 4", "Meckel-Gruber syndrome, type 4", "Meckel syndrome 4", "Meckel-like Cerebrorenodigital syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene." }, "child_count": 0, "reference_id": "MONDO:0012626" }, { "id": 13735, "label": "Meckel syndrome, type 5", "isLeaf": true, "isRoot": false, "parents": [ 18845, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070119", "GARD:0015520", "MEDGEN:409740", "MESH:C566915", "OMIM:611561", "UMLS:C1969052" ], "synonyms": [ "MKS5", "Meckel syndrome caused by mutation in RPGRIP1L", "Meckel syndrome, type 5", "RPGRIP1L Meckel syndrome", "Meckel syndrome 5" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." }, "child_count": 0, "reference_id": "MONDO:0012695" }, { "id": 13888, "label": "Meckel syndrome, type 6", "isLeaf": true, "isRoot": false, "parents": [ 18845, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070120", "GARD:0015548", "MEDGEN:382942", "MESH:C567365", "OMIM:612284", "UMLS:C2676790" ], "synonyms": [ "CC2D2A Meckel syndrome", "MKS6", "Meckel syndrome caused by mutation in CC2D2A", "Meckel syndrome, type 6", "Meckel syndrome 6" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene." }, "child_count": 0, "reference_id": "MONDO:0012848" }, { "id": 23565, "label": "Townes-Brocks syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 8551, 24804 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025951", "MEDGEN:1635275", "OMIM:107480", "UMLS:C4551481" ], "synonyms": [ "Townes-Brocks syndrome 1", "townes-brocks branchiootorenal-like syndrome", "TBS1", "Townes-Brocks-branchiootorenal-like syndrome", "anus, imperforate, with hand, Foot, and Ear anomalies", "deafness, sensorineural, with imperforate anus and thumb anomalies", "rear syndrome", "renal-ear-anal-radial syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0054581" }, { "id": 24901, "label": "crossed polydactyly, type I", "isLeaf": true, "isRoot": false, "parents": [ 24804 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001616", "MEDGEN:357421", "UMLS:C1868112" ], "synonyms": [ "CP1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800291" } ], "roots": [ { "id": 18360, "label": "skeletal dysplasia" }, { "id": 20258, "label": "syndactyly" }, { "id": 20259, "label": "polydactyly" } ] }