{ "id": 19660, "label": "distal arthrogryposis", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019942", "properties": { "xrefs": [ "DOID:0050646", "GARD:0000786", "MEDGEN:120512", "OMIMPS:108120", "Orphanet:97120", "SCTID:24269006", "UMLS:C0265213", "icd11.foundation:1265239690" ], "synonyms": [ "arthrogryposis multiplex congenita distal" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A muscle tissue disease characterized by congenital joint contractures of hand and feet." }, "isLeaf": false, "isRoot": false, "child_count": 23, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 5798, "label": "muscle tissue disorder", "isLeaf": false, "isRoot": false, "parents": [ 4222 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080000", "DOID:66", "ICD10CM:M60-M63", "MESH:D009135" ], "synonyms": [ "disease of muscle organ", "disease of muscle tissue", "disease or disorder of muscle organ", "disease or disorder of muscle tissue", "disorder of muscle organ", "disorder of muscle tissue", "muscle organ disease", "muscle organ disease or disorder", "muscle tissue disease", "muscle tissue disease or disorder", "muscular disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease involving the muscle tissue." }, "child_count": 13, "reference_id": "MONDO:0003939" }, { "id": 16118, "label": "arthrogryposis syndrome", "isLeaf": false, "isRoot": false, "parents": [ 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019870", "Orphanet:109007", "icd11.foundation:1692487835" ], "synonyms": [ "arthrogryposis syndrome" ] }, "child_count": 6, "reference_id": "MONDO:0015225" } ], "children": [ { "id": 8565, "label": "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111608", "GARD:0004047", "MEDGEN:350678", "OMIM:108145", "Orphanet:1154", "SCTID:715217004", "UMLS:C1862472" ], "synonyms": [ "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome", "distal arthrogryposis type 5", "distal arthrogryposis type IIB", "distal arthrogryposis with ophthalmoplegia", "oculomelic amyoplasia", "Arthogryposis with oculomotor limitation and electroretinal abnormalities", "DA5", "arthrogryposis ophthalmoplegia retinopathy", "arthrogryposis with oculomotor limitation and electroretinal abnormalities", "arthrogryposis, distal, type 2B", "arthrogryposis, distal, type 5", "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." }, "child_count": 0, "reference_id": "MONDO:0007158" }, { "id": 8566, "label": "arthrogryposis-like hand anomaly-sensorineural deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111609", "GARD:0000784", "MEDGEN:350677", "MESH:C535386", "OMIM:108200", "Orphanet:1144", "SCTID:720515009", "UMLS:C1862471" ], "synonyms": [ "distal arthrogryposis type 6", "DA6", "arthrogryposis and sensorineural deafness", "arthrogryposis, distal, type 6", "arthrogryposis-like hand anomaly and sensorineural deafness", "familial hand abnormality and sensori-neural deafness" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed." }, "child_count": 0, "reference_id": "MONDO:0007159" }, { "id": 8657, "label": "Gordon syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111607", "GARD:0002553", "ICD9:579.8", "MEDGEN:66314", "MESH:C537288", "NORD:1199", "OMIM:114300", "Orphanet:376", "SCTID:237850008", "UMLS:C0220666" ], "synonyms": [ "Gordon syndrome", "camptodactyly-cleft palate-clubfoot syndrome", "distal arthrogryposis type 3", "distal arthrogryposis type IIA", "DA3", "arthrogryposis distal type 3", "arthrogryposis multiplex congenita, distal, type 2A", "arthrogryposis, distal, type 3", "camptodactyly, cleft palate, and clubfoot" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition." }, "child_count": 0, "reference_id": "MONDO:0007252" }, { "id": 8756, "label": "congenital contractural arachnodactyly", "isLeaf": true, "isRoot": false, "parents": [ 4427, 10051, 17630, 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111595", "GARD:0005899", "ICD9:759.89", "MEDGEN:67391", "MESH:C536211", "NANDO:2201026", "NCIT:C129865", "NORD:844", "OMIM:121050", "Orphanet:115", "SCTID:205821003", "UMLS:C0220668", "icd11.foundation:1376425921" ], "synonyms": [ "Beals syndrome", "Beals-Hecht syndrome", "CCA", "CCA syndrome", "distal arthrogryposis type 9", "DA9", "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis", "arachnodactyly, contractural Beals type", "arthrogryposis, distal, type 9", "contractural arachnodactyly, congenital", "contractures, multiple with arachnodactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia." }, "child_count": 0, "reference_id": "MONDO:0007363" }, { "id": 8757, "label": "arthrogryposis, distal, type 2E", "isLeaf": true, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010135", "MEDGEN:343844", "MESH:C535384", "OMIM:121070", "UMLS:C1852597" ], "synonyms": [ "arthrogryposis, distal, type 2E", "contractures of fingers and jaw" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007364" }, { "id": 9342, "label": "trismus-pseudocamptodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111603", "GARD:0002621", "ICD9:759.89", "MEDGEN:78540", "MESH:C535857", "NORD:1795", "OMIM:158300", "Orphanet:3377", "SCTID:8757006", "UMLS:C0265226" ], "synonyms": [ "Dutch-Kentucky syndrome", "Hecht syndrome", "Hecht-Beals syndrome", "distal arthrogryposis type 7", "trismus-pseudocamptodactyly syndrome", "DA7", "arthrogryposis distal type 7", "arthrogryposis, distal, type 7", "mouth, inability to open completely, and short finger-flexor tendons" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008016" }, { "id": 9642, "label": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A", "isLeaf": true, "isRoot": false, "parents": [ 2903, 19660, 20245 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081321", "GARD:0013058", "MEDGEN:401232", "MESH:C566739", "OMIM:178110", "Orphanet:65743", "UMLS:C1867440" ], "synonyms": [ "contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A", "distal arthrogryposis type 8", "multiple pterygium syndrome, autosomal dominant", "DA8", "arthrogryposis, distal, type 8", "pterygium syndrome, multiple, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008338" }, { "id": 9951, "label": "Freeman-Sheldon syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4427, 10051, 16089, 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111604", "DOID:0111605", "GARD:0006466", "MEDGEN:120516", "MESH:C535483", "NCIT:C98931", "NORD:1161", "OMIM:193700", "Orphanet:2053", "SCTID:52616002", "UMLS:C0265224", "icd11.foundation:1314169421" ], "synonyms": [ "Craniocarpotarsal dysplasia", "Craniocarpotarsal dystrophy", "Freeman Sheldon Syndrome", "Freeman Sheldon syndrome", "Freeman-Sheldon syndrome", "arthrogryposis, distal, type 2A (Freeman-Sheldon)", "cranio-carpo-tarsal syndrome", "craniocarpotarsal dysplasia", "craniocarpotarsal dystrophy", "distal arthrogryposis type 2A", "whistling face syndrome", "whistling face-windmill vane hand syndrome", "whistling-face syndrome", "windmill-vane-hand syndrome", "DA2A", "FSS", "arthrogryposis distal type 2A", "arthrogryposis, distal, type 2A" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." }, "child_count": 5, "reference_id": "MONDO:0008675" }, { "id": 12251, "label": "Sheldon-hall syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111599", "GARD:0016556", "MEDGEN:320374", "Orphanet:1147", "UMLS:C1834523", "icd11.foundation:1206883656" ], "synonyms": [ "DA2B", "Freeman-Sheldon syndrome variant", "Sheldon-Hall syndrome", "arthrogryposis, distal, type 2B", "distal arthrogryposis type 2B", "Freeman Sheldon syndrome, variant", "Freeman Sheldon variant", "arthrogryposis multiplex congenita distal type 2B", "arthrogryposis multiplex congenita distal type II with craniofacial abnormalities", "arthrogryposis multiplex congenita, distal, type 2B", "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." }, "child_count": 3, "reference_id": "MONDO:0011128" }, { "id": 12264, "label": "Ehlers-Danlos syndrome, musculocontractural type", "isLeaf": false, "isRoot": false, "parents": [ 16168, 16198, 19660, 19720, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008486", "MEDGEN:356497", "MESH:C000600608", "NANDO:1200652", "NANDO:2201262", "Orphanet:2953", "SCTID:720860004", "UMLS:C1866294" ], "synonyms": [ "ATCS", "CHST14-related EDS", "CHST14-related Ehlers-Danlos syndrome", "D4ST1-deficient EDS", "D4ST1-deficient Ehlers-Danlos syndrome", "EDS, Kosho type", "EDS, arthrogryposic type", "EDS, musculocontractural type", "Ehlers-Danlos syndrome, Kosho type", "Ehlers-Danlos syndrome, arthrogryposic type", "MCEDS", "adducted thumb-clubfoot syndrome", "adducted thumbs-arthrogryposis syndrome, Dundar type", "musculocontractural Ehlers-Danlos syndrome", "Dundar syndrome", "EDS6B, formerly", "EDSMC", "EDSMC1", "EDSmc", "Ehlers-Danlos syndrome, musculocontractural type 1", "Ehlers-Danlos syndrome, musculocontractural type, 1", "Ehlers-Danlos syndrome, type VIB, formerly", "Ehlers-Danlos syndrome, type Vib", "Ehlers-Danlos syndrome, type Vib, formerly", "adducted thumb clubfoot syndrome", "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome", "adducted thumb-club foot syndrome", "adducted thumbs Dundar type", "arthrogryposis, distal, with peculiar facies and hydronephrosis", "autosomal recessive adducted thumb-club foot syndrome", "musculocontractural EDS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations." }, "child_count": 10, "reference_id": "MONDO:0011142" }, { "id": 13257, "label": "arthrogryposis-severe scoliosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111610", "GARD:0016672", "MEDGEN:373169", "MESH:C563791", "OMIM:609128", "Orphanet:65720", "SCTID:715575001", "UMLS:C1836756" ], "synonyms": [ "distal arthrogryposis type 4", "distal arthrogryposis type IID", "DA4", "arthrogryposis with Severe scoliosis", "arthrogryposis, distal, type 2D", "arthrogryposis, distal, type 4" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." }, "child_count": 0, "reference_id": "MONDO:0012195" }, { "id": 15038, "label": "distal arthrogryposis type 5D", "isLeaf": true, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111594", "GARD:0013059", "MEDGEN:767329", "OMIM:615065", "Orphanet:329457", "UMLS:C3554415" ], "synonyms": [ "DA5D", "ECEL1 distal arthrogryposis", "distal arthrogryposis caused by mutation in ECEL1", "distal arthrogryposis type 5 without ophthalmoparesis", "distal arthrogryposis type 5 without ophthalmoplegia", "arthrogryposis, distal, type 5D" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature." }, "child_count": 0, "reference_id": "MONDO:0014028" }, { "id": 15254, "label": "autism spectrum disorder - epilepsy - arthrogryposis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16198, 17973, 19660 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017604", "MEDGEN:816240", "OMIM:615553", "Orphanet:370943", "UMLS:C3809910" ], "synonyms": [ "SLC35A3-CDG", "arthrogryposis, impaired intellectual development, and seizures", "AMRS", "arthrogryposis, intellectual disability, and seizures", "arthrogryposis, mental retardation, and seizures" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21)." }, "child_count": 0, "reference_id": "MONDO:0014248" }, { "id": 15920, "label": "arthrogryposis, distal, with impaired proprioception and touch", "isLeaf": true, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025036", "MEDGEN:934659", "OMIM:617146", "UMLS:C4310692" ], "synonyms": [ "DAIPT", "arthrogryposis, distal, with impaired proprioception and touch", "arthrogryposis, distal, with impaired proprioception and touch; DAIPT" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014941" }, { "id": 16130, "label": "digitotalar dysmorphism", "isLeaf": false, "isRoot": false, "parents": [ 16089, 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111596", "GARD:0000787", "MESH:C565097", "Orphanet:1146", "icd11.foundation:1679749810" ], "synonyms": [ "DA1", "arthrogryposis multiplex congenita distal type 1", "digitotalar dysmorphism", "distal arthrogryposis type 1", "distal arthrogryposis type 1A (sub-type)", "distal arthrogryposis type 1B (sub-type)", "AMCD1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis." }, "child_count": 6, "reference_id": "MONDO:0015240" }, { "id": 17142, "label": "distal arthrogryposis type 10", "isLeaf": true, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111593", "GARD:0017212", "MEDGEN:349990", "MESH:C566069", "OMIM:187370", "Orphanet:251515", "SCTID:275336002", "UMLS:C1861238" ], "synonyms": [ "DA10", "distal arthrogryposis type 10", "plantar flexion contracture", "short Achilles tendon", "short tendo calcaneus", "arthrogryposis, distal, type 10", "congenital plantar contractures", "tendo calcaneus, short" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0016675" }, { "id": 21087, "label": "distal arthrogryposis Moore weaver type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 10051, 19660 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001884", "MEDGEN:419054", "MESH:C536814", "UMLS:C2931342" ], "synonyms": [ "Moore Weaver syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022998" }, { "id": 22068, "label": "arthrogryposis, distal, type 1C", "isLeaf": true, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112190", "GARD:0016421", "MEDGEN:1722257", "OMIM:619110", "UMLS:C5436834" ], "synonyms": [ "DA1C", "arthrogryposis, distal, type 1C" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030847" }, { "id": 22208, "label": "arthrogryposis, distal, IIa 11", "isLeaf": true, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025683", "MEDGEN:1823978", "OMIM:620019", "UMLS:C5774205" ], "synonyms": [ "DA11", "arthrogryposis, distal, IIa 11" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0031045" }, { "id": 23353, "label": "arthrogryposis-ectodermal dysplasia-other anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138, 19660 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005029", "MEDGEN:1674099", "Orphanet:3200", "UMLS:C5191837" ], "synonyms": [ "Stoll-Alembik-Finck syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0044406" }, { "id": 24726, "label": "ACTC1-related distal arthrogryposis with congenital heart disease", "isLeaf": true, "isRoot": false, "parents": [ 7116, 19660, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028025" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A distal arthrogryposis caused by variation in the ACTC1 gene. This disease is characterised by multiple congenital contractures, neck pterygia, scoliosis, congenital heart defects, and/or cardiomyopathy." }, "child_count": 0, "reference_id": "MONDO:0700352" }, { "id": 24881, "label": "arthrogryposis, distal, type 2B4", "isLeaf": true, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026478", "MEDGEN:1682592", "UMLS:C5193002" ], "synonyms": [ "DA2B4" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800200" }, { "id": 25753, "label": "arthrogryposis, distal, type 12", "isLeaf": true, "isRoot": false, "parents": [ 19660 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026879", "MEDGEN:1847896", "OMIM:620545", "UMLS:C5882704" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957819" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 5798, "label": "muscle tissue disorder" }, { "id": 16118, "label": "arthrogryposis syndrome" } ] }