{ "id": 18362, "label": "dysostosis", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0018234", "properties": { "xrefs": [ "DOID:1934", "ICD9:756.9", "MEDGEN:4430", "MESH:D004413", "NCIT:C34560", "Orphanet:364559", "SCTID:109420003", "UMLS:C0013393" ], "synonyms": [ "dysostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones." }, "isLeaf": false, "isRoot": false, "child_count": 108, "parents": [ { "id": 7153, "label": "bone development disease", "isLeaf": false, "isRoot": false, "parents": [ 7061, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080006", "EFO:0005541", "MEDGEN:2309", "SCTID:371521007", "UMLS:C0005941" ], "synonyms": [ "bone development disease", "bone development disease or disorder", "disease of bone development", "disease or disorder of bone development", "disorder of bone development" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease involving the bone development." }, "child_count": 18, "reference_id": "MONDO:0005497" } ], "children": [ { "id": 2748, "label": "trigonocephaly", "isLeaf": false, "isRoot": false, "parents": [ 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022718", "MEDGEN:82713", "SCTID:28740008", "UMLS:C0265535", "icd11.foundation:20816218" ], "synonyms": [ "trigonocephaly", "trigonocephalia", "trigonocephalus", "trigonocephaly, isolated" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0000156" }, { "id": 2864, "label": "spondylocostal dysostosis", "isLeaf": false, "isRoot": false, "parents": [ 3140, 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050568", "GARD:0012174", "MEDGEN:82707", "MESH:C537565", "NCIT:C125598", "NORD:1308", "OMIMPS:277300", "UMLS:C0265343" ], "synonyms": [ "Spondylocostal Dysplasia", "costovertebral dysplasia", "spondylocostal dysostosis", "spondylocostal dysplasia", "Jarcho-Levin syndrome", "SCD", "SCDO" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital)." }, "child_count": 12, "reference_id": "MONDO:0000359" }, { "id": 3632, "label": "synostosis", "isLeaf": false, "isRoot": false, "parents": [ 18362 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11971", "GARD:0022939", "MEDGEN:11689", "MESH:D013580", "UMLS:C0039093" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue." }, "child_count": 11, "reference_id": "MONDO:0001411" }, { "id": 8453, "label": "Adams-Oliver syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060227", "GARD:0005739", "ICD9:759.89", "MEDGEN:78544", "MESH:C538225", "NORD:731", "OMIMPS:100300", "Orphanet:974", "SCTID:34748004", "UMLS:C0265268", "icd11.foundation:745972142" ], "synonyms": [ "AOS", "congenital scalp defects with distal limb anomalies", "congenital scalp defects with distal limb reduction anomalies", "limb, scalp and skull defects", "limb scalp and skull defects" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects." }, "child_count": 18, "reference_id": "MONDO:0007034" }, { "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": 8487, "label": "ADULT syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 18362, 18956, 19138, 29233 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050601", "GARD:0000384", "MEDGEN:400232", "MESH:C538052", "OMIM:103285", "Orphanet:978", "SCTID:720464003", "UMLS:C1863204", "icd11.foundation:1445741645" ], "synonyms": [ "ADULT syndrome", "acro-dermato-ungual-lacrimal-tooth syndrome", "acrodermatounguallacrimaltooth syndrome", "pigment anomaly-ectrodactyly-hypodontia syndrome", "acro dermato ungual lacrimal tooth syndrome", "acro-dermato-ungual-lacrimal-Tooth syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia." }, "child_count": 0, "reference_id": "MONDO:0007072" }, { "id": 8536, "label": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome", "isLeaf": false, "isRoot": false, "parents": [ 18362, 18956, 19138, 29233 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090119", "GARD:0006571", "MEDGEN:98032", "MESH:C535847", "NORD:738", "OMIM:106260", "Orphanet:1071", "SCTID:55821006", "UMLS:C0406709" ], "synonyms": [ "AEC Syndrome", "AEC syndrome", "Hay-Wells syndrome", "Ankyloblepharon ectodermal defects cleft lip/palate", "Rapp-Hodgkins syndrome", "Seres-Santamaria Arimany Muniz syndrome", "ankyloblepharon-ectodermal defects-cleft LIP/palate", "cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." }, "child_count": 4, "reference_id": "MONDO:0007124" }, { "id": 8546, "label": "Cooks syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18362, 18956, 20260 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004083", "MEDGEN:354848", "MESH:C537766", "OMIM:106995", "Orphanet:1487", "SCTID:720747002", "UMLS:C1862841" ], "synonyms": [ "Cooks syndrome", "ODP", "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome", "anonychia and absence/hypoplasia of distal phalanges", "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized." }, "child_count": 0, "reference_id": "MONDO:0007134" }, { "id": 8616, "label": "brachydactyly-arterial hypertension syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18362, 18956, 20260 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111247", "GARD:0000967", "MEDGEN:349445", "MESH:C537095", "OMIM:112410", "Orphanet:1276", "SCTID:720568003", "UMLS:C1862170" ], "synonyms": [ "Bilginturan brachydactyly", "Bilginturan syndrome", "brachydactyly type E, with short stature and hypertension", "HTNB", "brachydactyly type E with short stature and hypertension", "brachydactyly with hypertension", "brachydactyly, type E, with short stature and hypertension", "hypertension and brachydactyly syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." }, "child_count": 0, "reference_id": "MONDO:0007211" }, { "id": 8630, "label": "fibular aplasia-ectrodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002331", "MEDGEN:396290", "MESH:C537930", "OMIM:113310", "Orphanet:1118", "UMLS:C1862100" ], "synonyms": [ "brachydactyly-ectrodactyly with fibular aplasia or hypoplasia", "fibular aplasia ectrodactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females." }, "child_count": 0, "reference_id": "MONDO:0007225" }, { "id": 8636, "label": "brachytelephalangy-dysmorphism-Kallmann syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 16526, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016562", "MEDGEN:444052", "MESH:C537101", "OMIM:113480", "Orphanet:1295", "UMLS:C2931421" ], "synonyms": [ "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." }, "child_count": 0, "reference_id": "MONDO:0007231" }, { "id": 8726, "label": "congenital pseudoarthrosis of clavicle", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016673", "MEDGEN:75577", "MESH:C562548", "OMIM:118980", "Orphanet:66630", "SCTID:70794004", "UMLS:C0265565", "icd11.foundation:1844778103" ], "synonyms": [ "congenital pseudarthrosis of the clavicle", "clavicle, pseudarthrosis of, congenital", "congenital pseudoarthrosis of the clavicle" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle." }, "child_count": 0, "reference_id": "MONDO:0007330" }, { "id": 8959, "label": "external auditory canal atresia-vertical talus-hypertelorism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18362, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004638", "MEDGEN:361813", "OMIM:133705", "Orphanet:3023", "UMLS:C1876181" ], "synonyms": [ "Rasmussen-Johnsen-Thomsen syndrome", "Rasmussen Johnsen Thomsen syndrome", "Rasmussen syndrome", "external auditory canal, bilateral atresia of, with congenital vertical talus", "inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0007587" }, { "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": 9053, "label": "hand-foot-genital syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 6772, 16089, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060739", "GARD:0002594", "ICD9:759.89", "MEDGEN:331103", "MESH:C535627", "MedDRA:10072361", "OMIM:140000", "Orphanet:2438", "SCTID:702425002", "UMLS:C1841679" ], "synonyms": [ "HFGS", "hand-foot-genital syndrome", "hand-foot-uterus syndrome", "HFG", "HFG syndrome", "HFU syndrome", "hand foot genital syndrome", "hand foot uterus syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." }, "child_count": 0, "reference_id": "MONDO:0007698" }, { "id": 9066, "label": "oculoauriculovertebral spectrum with radial defects", "isLeaf": false, "isRoot": false, "parents": [ 5714, 16089, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003653", "MEDGEN:67392", "OMIM:141400", "Orphanet:2549", "SCTID:726722009", "UMLS:C0220681" ], "synonyms": [ "Moeschler-Clarren syndrome", "hemifacial microsomia-radial defects syndrome", "Goldenhar syndrome with ipsilateral radial defect", "Moeschler Clarren syndrome", "Oavs with radial defect", "hemifacial microsomia with radial defects", "microsomia hemifacial radial defects", "oculoauriculovertebral spectrum with radial defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported." }, "child_count": 3, "reference_id": "MONDO:0007712" }, { "id": 9172, "label": "IVIC syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111381", "GARD:0000269", "MEDGEN:233003", "MESH:C535544", "OMIM:147750", "Orphanet:2307", "SCTID:722019000", "UMLS:C1327918" ], "synonyms": [ "IVIC syndrome", "oculo-oto-radial syndrome", "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia", "Instituto venezolano de Investigaciones Cientificas syndrome", "OORS", "oculootoradial syndrome", "radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." }, "child_count": 0, "reference_id": "MONDO:0007836" }, { "id": 9384, "label": "nail-patella syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 7019, 18362 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9467", "GARD:0007160", "ICD9:759.89", "MEDGEN:10257", "MESH:D009261", "MedDRA:10063431", "NANDO:1200967", "NANDO:2200132", "NCIT:C75120", "NORD:1488", "OMIM:161200", "Orphanet:2614", "SCTID:22199006", "UMLS:C0027341", "icd11.foundation:1121867410" ], "synonyms": [ "Fong disease", "NPS 1", "NPS1", "Nail Patella Syndrome", "Turner-Kieser syndrome", "hereditary Osteo-onychodysplasia", "nail-patella syndrome", "onychoosteodysplasia", "osteo-onychodysplasia", "NPS", "arthro-onychodysplasia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies." }, "child_count": 0, "reference_id": "MONDO:0008061" }, { "id": 9513, "label": "patella aplasia/hypoplasia", "isLeaf": false, "isRoot": false, "parents": [ 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008709", "MEDGEN:358246", "MESH:C535568", "OMIM:168860", "Orphanet:86789", "UMLS:C1868577", "icd11.foundation:88577362" ], "synonyms": [ "PTLAH", "patella aplasia or hypoplasia", "absent patella", "familial absence of the patella", "familial aplasia of the patella (subtype)", "patella aplasia-hypoplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." }, "child_count": 4, "reference_id": "MONDO:0008205" }, { "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": 9544, "label": "phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004323", "MEDGEN:356961", "MESH:C537498", "OMIM:171480", "Orphanet:2878", "UMLS:C1868390" ], "synonyms": [ "Stoll-LC)vy-Francfort syndrome", "Stoll-Lévy-Francfort syndrome", "Stoll-levy-Francfort syndrome", "facioauriculoradial dysplasia", "phocomelia ectrodactyly deafness sinus arrhythmia", "phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families." }, "child_count": 0, "reference_id": "MONDO:0008237" }, { "id": 9604, "label": "postaxial tetramelic oligodactyly", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004065", "MEDGEN:357380", "MESH:C566767", "OMIM:176240", "Orphanet:2730", "UMLS:C1867924" ], "synonyms": [ "oligodactyly tetramelic postaxial", "postaxial oligodactyly, tetramelic" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993." }, "child_count": 0, "reference_id": "MONDO:0008298" }, { "id": 9611, "label": "Currarino triad", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111546", "GARD:0001626", "ICD9:759.89", "MEDGEN:323460", "MESH:C536221", "OMIM:176450", "Orphanet:1552", "SCTID:413936007", "UMLS:C1531773", "icd11.foundation:1532133816" ], "synonyms": [ "Currarino syndrome", "Currarino triad", "CURRARINO syndrome", "Scra1", "partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation", "sacral agenesis syndrome", "sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)." }, "child_count": 0, "reference_id": "MONDO:0008305" }, { "id": 9660, "label": "radio-renal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000224", "MEDGEN:419723", "MESH:C536267", "OMIM:179280", "Orphanet:3015", "SCTID:766765009", "UMLS:C2931146" ], "synonyms": [ "radial-renal syndrome", "radio renal syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983." }, "child_count": 0, "reference_id": "MONDO:0008359" }, { "id": 9752, "label": "splenogonadal fusion-limb defects-micrognathia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004963", "MEDGEN:401073", "MESH:C537318", "OMIM:183300", "Orphanet:2063", "SCTID:726724005", "UMLS:C1866745" ], "synonyms": [ "SGFLD syndrome", "Sgfld syndrome", "splenogonadal fusion limb defect syndrome", "splenogonadal fusion limb defects micrognatia", "splenogonadal fusion limb defects syndrome", "splenogonadal fusion with limb defects and micrognathia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations." }, "child_count": 0, "reference_id": "MONDO:0008460" }, { "id": 9758, "label": "Karsch-Neugebauer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004967", "MEDGEN:401072", "MESH:C537319", "OMIM:183800", "Orphanet:2329", "SCTID:722032005", "UMLS:C1866740" ], "synonyms": [ "Karsch-Neugebauer syndrome", "split hand/split foot-nystagmus syndrome", "KNS", "Nystagmus-split hand syndrome", "split hand nystagmus syndrome", "split hand split foot nystagmus", "split-hand with congenital NYSTAGMUS, fundal changes, and cataracts" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." }, "child_count": 0, "reference_id": "MONDO:0008466" }, { "id": 9833, "label": "tetramelic monodactyly", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003707", "MEDGEN:349989", "MESH:C566066", "OMIM:187510", "Orphanet:2564", "UMLS:C1861233" ], "synonyms": [ "Sommer-Hines syndrome", "tetramelic monodactyly", "Sommer Hines syndrome", "tetramelic monodactyly with autosomal dominant inheritance" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992." }, "child_count": 0, "reference_id": "MONDO:0008544" }, { "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": 9896, "label": "humerus trochlea aplasia", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002750", "MEDGEN:348185", "MESH:C566022", "OMIM:191000", "Orphanet:3383", "SCTID:732928005", "UMLS:C1860773" ], "synonyms": [ "aplasia of trochlea of the humerus", "trochlea of the HUMERUS, aplasia OF", "trochlea of the humerus aplasia of" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." }, "child_count": 0, "reference_id": "MONDO:0008611" }, { "id": 10075, "label": "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003051", "MEDGEN:347225", "MESH:C535881", "OMIM:207620", "Orphanet:1112", "SCTID:733118006", "UMLS:C1859754" ], "synonyms": [ "Johnson-Munson syndrome", "APHALANGY with hemivertebrae", "Aphalangy of the hands and feet, hemivertebrae, and visceral malformations", "Johnson Munson syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991." }, "child_count": 0, "reference_id": "MONDO:0008806" }, { "id": 10163, "label": "camptodactyly syndrome, Guadalajara type 2", "isLeaf": true, "isRoot": false, "parents": [ 2728, 16089, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001068", "MEDGEN:419870", "MESH:C567138", "OMIM:211920", "Orphanet:1326", "SCTID:720603002", "UMLS:C2931680" ], "synonyms": [ "Guadalajara camptodactyly syndrome type II", "camptodactyly syndrome Guadalajara type 2", "camptodactyly syndrome, Guadalajara, type 2", "camptodactyly syndrome, Guadalajara, type II" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." }, "child_count": 0, "reference_id": "MONDO:0008899" }, { "id": 10164, "label": "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16087, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001064", "MEDGEN:1848853", "MESH:C537974", "OMIM:211930", "Orphanet:1321", "UMLS:C5848327" ], "synonyms": [ "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia", "camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972." }, "child_count": 0, "reference_id": "MONDO:0008900" }, { "id": 10328, "label": "split hand-foot malformation 1 with sensorineural hearing loss", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18360, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090024", "GARD:0016686", "MEDGEN:347431", "MESH:C565647", "OMIM:220600", "Orphanet:71271", "SCTID:723611008", "UMLS:C1857344" ], "synonyms": [ "SHFM1D", "split hand-foot malformation 1 with sensorineural hearing loss", "split-hand/foot malformation 1 with sensorineural hearing loss", "deafness, congenital, with split hands and feet", "split hand-split foot-deafness syndrome", "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0009080" }, { "id": 10399, "label": "EEM syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 18362, 18956, 19138, 19765 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111649", "GARD:0002078", "MEDGEN:341679", "MESH:C536190", "OMIM:225280", "Orphanet:1897", "SCTID:720856002", "UMLS:C1857041" ], "synonyms": [ "EEM syndrome", "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome", "EEMS", "ectodermal dysplasia, ectrodactyly, and macular dystrophy", "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)." }, "child_count": 0, "reference_id": "MONDO:0009155" }, { "id": 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": 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": 10474, "label": "acromesomelic dysplasia 2B", "isLeaf": true, "isRoot": false, "parents": [ 7611, 18362, 18956, 19474 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050790", "GARD:0009879", "MEDGEN:346432", "MESH:C537931", "OMIM:228900", "Orphanet:2639", "SCTID:715474004", "UMLS:C1856738" ], "synonyms": [ "Du Pan syndrome", "acromesomelic dysplasia 2B", "fibular hypoplasia and complex brachydactyly", "fibular aplasia-complex brachydactyly syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009231" }, { "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": 10740, "label": "absence deformity of leg-cataract syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016593", "MEDGEN:343374", "MESH:C565442", "OMIM:246000", "Orphanet:2310", "UMLS:C1855523" ], "synonyms": [ "leg, absence deformity of, with congenital cataract" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." }, "child_count": 0, "reference_id": "MONDO:0009516" }, { "id": 10748, "label": "intellectual disability-spasticity-ectrodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003523", "MEDGEN:340888", "MESH:C537446", "OMIM:246555", "Orphanet:1891", "SCTID:763743003", "UMLS:C1855501" ], "synonyms": [ "Jancar syndrome", "ectrodactyly, spastic paraplegia and intellectual disability", "ectrodactyly, spastic paraplegia and mental retardation", "intellectual disability spasticity ectrodactyly", "intellectual disability, spasticity and transverse limb defects", "limb defects, distal transverse, with intellectual disability and spasticity", "limb defects, distal transverse, with mental retardation and spasticity", "mental retardation spasticity ectrodactyly", "mental retardation, spasticity and transverse limb defects" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet)." }, "child_count": 0, "reference_id": "MONDO:0009524" }, { "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": 11029, "label": "otoonychoperoneal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004170", "ICD9:759.89", "MEDGEN:376704", "MESH:C564912", "OMIM:259780", "Orphanet:2793", "SCTID:441944007", "UMLS:C1850105" ], "synonyms": [ "otoonychoperoneal syndrome", "oto-onycho-peroneal syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009822" }, { "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": 11199, "label": "EEC syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 18362, 18956, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060782", "GARD:0002076", "MEDGEN:98357", "MESH:C536189", "NCIT:C148261", "NORD:1079", "OMIM:268650", "Orphanet:1896", "SCTID:39788007", "UMLS:C0406704" ], "synonyms": [ "Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate", "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome", "ectrodactyly-ectodermal dysplasia-cleft syndrome", "RUDIGER syndrome", "ectrodactyly-cleft lip/palate syndrome", "ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate", "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." }, "child_count": 10, "reference_id": "MONDO:0010004" }, { "id": 11258, "label": "spondylocostal dysostosis-anal and genitourinary malformations syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6772, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024705", "MEDGEN:341373", "MESH:C564799", "OMIM:271520", "Orphanet:94095", "UMLS:C1849069" ], "synonyms": [ "Casamassima-Morton-Nance syndrome", "CMn syndrome", "spondylocostal dysostosis with anal atresia and urogenital anomalies", "spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0010069" }, { "id": 11296, "label": "tetraamelia-multiple malformations syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 16089, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112191", "GARD:0000386", "MEDGEN:419746", "MESH:C536500", "OMIMPS:273395", "Orphanet:3301", "SCTID:716249009", "UMLS:C2931218" ], "synonyms": [ "Zimmer phocomelia", "TETAMS", "TETRAAMELIA syndrome, autosomal recessive", "Tetraamelia multiple malformations X-linked", "Zimmer Taub Sova syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." }, "child_count": 8, "reference_id": "MONDO:0010110" }, { "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": 11347, "label": "ulna hypoplasia-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005398", "MEDGEN:341275", "MESH:C564757", "OMIM:276821", "Orphanet:2249", "UMLS:C1848650" ], "synonyms": [ "bilateral ulnar hypoplasia and intellectual disability", "bilateral ulnar hypoplasia and mental retardation", "mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability", "mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation", "mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability", "mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation", "ulna hypoplasia with intellectual disability", "ulna hypoplasia with mental retardation", "ulnar hypoplasia with intellectual disability", "ulnar hypoplasia with mental retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." }, "child_count": 0, "reference_id": "MONDO:0010165" }, { "id": 11859, "label": "absent radius-anogenital anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004633", "MEDGEN:333312", "MESH:C535281", "OMIM:312190", "Orphanet:3016", "UMLS:C1839410" ], "synonyms": [ "radial aplasia and anogenital anomalies", "radial aplasia, X-linked", "radius absent anogenital anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993." }, "child_count": 0, "reference_id": "MONDO:0010718" }, { "id": 11890, "label": "ulnar hypoplasia-split foot syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005400", "MEDGEN:333256", "MESH:C536936", "OMIM:314360", "Orphanet:1122", "UMLS:C1839123" ], "synonyms": [ "Van den Berghe-Dequecker syndrome", "ulnar hypoplasia-lobster-claw deformity of feet syndrome", "Van De Berghe Dequeker syndrome", "complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet", "familial ulnar aplasia and lobster claw syndrome", "severe ulnar aplasia and lobster claw feet", "ulnar hypoplasia lobster claw deformity of feet", "ulnar hypoplasia with lobster-claw deformity of feet" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded." }, "child_count": 0, "reference_id": "MONDO:0010750" }, { "id": 12016, "label": "aphalangy-syndactyly-microcephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000748", "MEDGEN:324958", "MESH:C563942", "OMIM:600384", "Orphanet:1113", "UMLS:C1838161" ], "synonyms": [ "Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4", "APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV", "Aphalangia partial with syndactyly and duplication of metatarsal IV", "Aphalangia, partial, with syndactyly and Duplication of metatarsal 4" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0010882" }, { "id": 12109, "label": "absent tibia-polydactyly-arachnoid cyst syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005210", "MEDGEN:318725", "MESH:C563403", "OMIM:601027", "Orphanet:3328", "SCTID:733068001", "UMLS:C1832859" ], "synonyms": [ "Holmes-Collins syndrome", "Holmes Collins syndrome", "absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies", "tibia absent polydactyly arachnoid cyst", "tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies", "tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." }, "child_count": 0, "reference_id": "MONDO:0010981" }, { "id": 12180, "label": "autosomal recessive amelia", "isLeaf": true, "isRoot": false, "parents": [ 7611, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016554", "MEDGEN:321955", "MESH:C563338", "OMIM:601360", "Orphanet:1027", "SCTID:726735000", "UMLS:C1832432" ], "synonyms": [ "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome", "amelia, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents." }, "child_count": 0, "reference_id": "MONDO:0011054" }, { "id": 12355, "label": "pelvic dysplasia-arthrogryposis of lower limbs syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004269", "MEDGEN:400731", "OMIM:602484", "Orphanet:2840", "UMLS:C1865294" ], "synonyms": [ "Ray-Peterson-Scott syndrome", "pelvic dysplasia arthrogryposis of lower limbs", "pelvic hypoplasia with LOWER-limb arthrogryposis", "pelvic hypoplasia with arthrogryposis of lower limbs", "pelvic hypoplasia with lower limb arthrogryposis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011235" }, { "id": 12382, "label": "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16089, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000216", "MEDGEN:355918", "MESH:C535876", "OMIM:602612", "Orphanet:1323", "SCTID:715986009", "UMLS:C1865133" ], "synonyms": [ "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye", "Rozin hertz Goodman syndrome", "camptodactyly, joint contractures, facial skeletal defects" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline)." }, "child_count": 0, "reference_id": "MONDO:0011262" }, { "id": 12651, "label": "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome", "isLeaf": false, "isRoot": false, "parents": [ 10564, 18362, 18746, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016687", "MEDGEN:340183", "MESH:C565328", "NANDO:2200660", "OMIMPS:605432", "Orphanet:71289", "SCTID:721882001", "UMLS:C1854273" ], "synonyms": [ "ATRUS syndrome", "RUSAT", "radioulnar synostosis with amegakaryocytic thrombocytopenia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15)." }, "child_count": 8, "reference_id": "MONDO:0011555" }, { "id": 12735, "label": "genitopatellar syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010994", "ICD9:759.89", "MEDGEN:381208", "MESH:C565255", "OMIM:606170", "Orphanet:85201", "SCTID:702367005", "UMLS:C1853566" ], "synonyms": [ "absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome", "genitopatellar syndrome", "GENITOPATELLAR syndrome", "GTPTS", "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability", "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency." }, "child_count": 0, "reference_id": "MONDO:0011640" }, { "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": 13161, "label": "intellectual disability-brachydactyly-Pierre Robin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16087, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017583", "MEDGEN:325196", "MESH:C563880", "OMIM:608670", "Orphanet:364577", "UMLS:C1837564" ], "synonyms": [ "ROBIN sequence with distinctive facial appearance and brachydactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness." }, "child_count": 0, "reference_id": "MONDO:0012095" }, { "id": 13799, "label": "camptodactyly syndrome, Guadalajara type 3", "isLeaf": true, "isRoot": false, "parents": [ 2728, 16087, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010573", "MEDGEN:394371", "MESH:C567455", "OMIM:611929", "Orphanet:488434", "UMLS:C2677809" ], "synonyms": [ "camptodactyly syndrome Guadalajara type 3", "camptodactyly syndrome, Guadalajara, type 3", "camptodactyly syndrome, Guadalajara, type III" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age." }, "child_count": 0, "reference_id": "MONDO:0012759" }, { "id": 14401, "label": "mammary-digital-nail syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4379, 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017180", "MEDGEN:462296", "OMIM:613689", "Orphanet:238744", "SCTID:718679004", "UMLS:C3150946" ], "synonyms": [ "MDN syndrome", "mammary-digital-nail syndrome", "onycho-digito-mammary syndrome", "MDNS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." }, "child_count": 0, "reference_id": "MONDO:0013368" }, { "id": 15371, "label": "postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 18362, 18727, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080328", "GARD:0013349", "MEDGEN:862916", "OMIM:615849", "Orphanet:420584", "UMLS:C4014479" ], "synonyms": [ "CJS", "Culler-Jones syndrome", "Pallister-Hall syndrome 2", "Pallister-Hall syndrome 2, formerly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination." }, "child_count": 0, "reference_id": "MONDO:0014369" }, { "id": 15803, "label": "split-foot malformation-mesoaxial polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017889", "MEDGEN:1798910", "OMIM:616890", "Orphanet:488232", "UMLS:C5567487" ], "synonyms": [ "SFMMP", "split-foot malformation with mesoaxial polydactyly", "split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014816" }, { "id": 16093, "label": "amniotic band syndrome", "isLeaf": false, "isRoot": false, "parents": [ 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000429", "MEDGEN:66322", "MESH:D000652", "NCIT:C84552", "NORD:766", "OMIM:217100", "Orphanet:1034", "Orphanet:295000", "SCTID:440214006", "UMLS:C0220724", "icd11.foundation:1033549095" ], "synonyms": [ "Adam syndrome", "Streeter dysplasia", "amniotic band constriction", "amniotic bands", "amniotic deformity-adhesion-mutilation syndrome", "congenital ring constrictions", "constriction band syndrome", "constriction rings syndrome", "deformity due to amniotic band", "Adam Complex", "CONSTRICTING bands, congenital", "Streeter anomaly", "amniotic band sequence", "amniotic bands sequence", "amputation, congenital", "congenital constricting bands", "familial amniotic bands", "terminal transverse defects of arm" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies." }, "child_count": 2, "reference_id": "MONDO:0015167" }, { "id": 16123, "label": "radial deficiency-tibial hypoplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018716", "MEDGEN:1682367", "Orphanet:1121", "UMLS:C5190823" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015232" }, { "id": 16319, "label": "mandibulofacial dysostosis", "isLeaf": false, "isRoot": false, "parents": [ 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019980", "ICD10CM:Q75.4", "MESH:D008342", "MedDRA:10051456", "Orphanet:155899", "icd11.foundation:470731247" ], "synonyms": [ "bilateral and symmetric oto-mandibular dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)" }, "child_count": 6, "reference_id": "MONDO:0015483" }, { "id": 16328, "label": "oromandibular-limb anomalies syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019996", "MEDGEN:1842880", "Orphanet:156215", "UMLS:C5680663", "icd11.foundation:1868700139" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 4, "reference_id": "MONDO:0015498" }, { "id": 16340, "label": "congenital pseudoarthrosis of the limbs", "isLeaf": false, "isRoot": false, "parents": [ 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020015", "MEDGEN:1680202", "MESH:C535762", "Orphanet:157808", "UMLS:C5190522" ], "synonyms": [ "congenital pseudarthrosis of the limbs", "congenital pseudoarthrosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 10, "reference_id": "MONDO:0015525" }, { "id": 16572, "label": "oculomaxillofacial dysostosis", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 18362, 21213 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004046", "MEDGEN:333072", "MESH:C537736", "Orphanet:1794", "SCTID:763830009", "UMLS:C1838348", "icd11.foundation:921026296" ], "synonyms": [ "Richieri-Costa-Gorlin syndrome", "Richieri Costa Gorlin syndrome", "oblique facial clefts", "oculomaxillofacial dysplasia with oblique facial clefts" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported." }, "child_count": 4, "reference_id": "MONDO:0015824" }, { "id": 16663, "label": "shoulder and thorax deformity-congenital heart disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16618, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004859", "Orphanet:1940" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0016024" }, { "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": 16714, "label": "progressive non-infectious anterior vertebral fusion", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018759", "MEDGEN:930508", "Orphanet:2062", "SCTID:719268008", "UMLS:C4304839" ], "synonyms": [ "Copenhagen syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." }, "child_count": 0, "reference_id": "MONDO:0016087" }, { "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": 16946, "label": "heart-hand syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020573", "MEDGEN:1853290", "Orphanet:228184", "UMLS:C5848054" ], "synonyms": [ "atriodigital dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies." }, "child_count": 24, "reference_id": "MONDO:0016432" }, { "id": 17069, "label": "split hand-foot malformation", "isLeaf": false, "isRoot": false, "parents": [ 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090020", "GARD:0006319", "MEDGEN:78566", "NCIT:C75000", "NORD:1731", "OMIMPS:183600", "Orphanet:2440", "SCTID:81208006", "UMLS:C0265554" ], "synonyms": [ "FEWER digits", "SHFM", "Split Hand/Split Foot Malformation", "ectrodactyly", "split hand foot malformation", "split-hand/foot malformation", "isolated split hand-split foot malformation", "split hand-split foot malformation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported." }, "child_count": 12, "reference_id": "MONDO:0016576" }, { "id": 17106, "label": "Melhem-Fahl syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003462", "MEDGEN:444059", "MESH:C537238", "Orphanet:2482", "SCTID:732263008", "UMLS:C2931453", "icd11.foundation:999539082" ], "synonyms": [ "Melhem Fahl syndrome", "fifteen dorsal vertebrae and rib pairs" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." }, "child_count": 0, "reference_id": "MONDO:0016622" }, { "id": 17112, "label": "limb transversal defect-cardiac anomaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025083", "MEDGEN:419705", "MESH:C535856", "Orphanet:2492", "UMLS:C2931047" ], "synonyms": [ "Hecht-Scott syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0016641" }, { "id": 17114, "label": "frontonasal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081044", "GARD:0002392", "MEDGEN:406292", "MESH:C538065", "NORD:1165", "OMIMPS:136760", "Orphanet:250", "SCTID:86610004", "UMLS:C1876203", "icd11.foundation:782645776" ], "synonyms": [ "median cleft face syndrome", "FND1", "frontonasal dysplasia 1", "median cleft syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement." }, "child_count": 18, "reference_id": "MONDO:0016643" }, { "id": 17507, "label": "imperforate oropharynx-costo vetebral anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002989", "MEDGEN:1663228", "Orphanet:2759", "UMLS:C4749770" ], "synonyms": [ "Seghers syndrome", "imperforate oropharynx-costo vetebral anomalies", "imperforate oropharynx-costovertebral anomalies syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989." }, "child_count": 0, "reference_id": "MONDO:0017162" }, { "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": 17735, "label": "congenital absence of upper arm and forearm with hand present", "isLeaf": true, "isRoot": false, "parents": [ 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012123", "ICD10CM:Q71.1", "MEDGEN:539337", "NCIT:C34928", "Orphanet:294975", "SCTID:22841008", "UMLS:C0265574", "icd11.foundation:1157109358" ], "synonyms": [ "humero-radio-ulnar intercalary transverse meromelia", "phocomelia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A congenital malformation in which the upper portion of a limb is either shortened or absent." }, "child_count": 0, "reference_id": "MONDO:0017441" }, { "id": 17736, "label": "congenital absence of thigh and lower leg with foot present", "isLeaf": false, "isRoot": false, "parents": [ 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021193", "ICD10CM:Q72.1", "ICD9:755.33", "MEDGEN:539373", "Orphanet:294977", "SCTID:55852007", "UMLS:C0265626", "icd11.foundation:1165997650" ], "synonyms": [ "Femorotibiofibular intercalary transverse meromelia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0017442" }, { "id": 17737, "label": "congenital absence of both forearm and hand", "isLeaf": false, "isRoot": false, "parents": [ 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021194", "ICD10CM:Q71.2", "MEDGEN:727129", "Orphanet:294979", "UMLS:C1306663", "icd11.foundation:810894993" ], "synonyms": [ "radio-ulnar terminal transverse meromelia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end." }, "child_count": 4, "reference_id": "MONDO:0017443" }, { "id": 17738, "label": "congenital absence of both lower leg and foot", "isLeaf": false, "isRoot": false, "parents": [ 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021195", "ICD10CM:Q72.2", "MEDGEN:609276", "Orphanet:294981", "SCTID:278532000", "UMLS:C0431991", "icd11.foundation:835905199" ], "synonyms": [ "tibiofibular terminal transverse meromelia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0017444" }, { "id": 17739, "label": "acheiria", "isLeaf": false, "isRoot": false, "parents": [ 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021196", "MEDGEN:488815", "Orphanet:294983", "SCTID:371199008", "UMLS:C0265594", "icd11.foundation:1428065029" ], "synonyms": [ "congenital absence of hand" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0017445" }, { "id": 17740, "label": "apodia", "isLeaf": false, "isRoot": false, "parents": [ 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021197", "MEDGEN:488816", "Orphanet:294986", "SCTID:371197005", "UMLS:C0265624", "icd11.foundation:1419324219" ], "synonyms": [ "congenital absence of foot" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0017446" }, { "id": 17741, "label": "split hand", "isLeaf": false, "isRoot": false, "parents": [ 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025095", "HP:0001171", "MEDGEN:397570", "Orphanet:294992", "UMLS:C2699510", "icd11.foundation:924222970" ], "synonyms": [ "ectrodactyly of hand", "split hand", "split hand (disease)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." }, "child_count": 2, "reference_id": "MONDO:0017449" }, { "id": 17742, "label": "split foot", "isLeaf": false, "isRoot": false, "parents": [ 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025096", "HP:0001839", "ICD10CM:Q72.7", "MEDGEN:140919", "Orphanet:294994", "SCTID:205358006", "UMLS:C0432028", "icd11.foundation:1406855248" ], "synonyms": [ "split foot", "split foot (disease)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0017450" }, { "id": 17747, "label": "hyperphalangy", "isLeaf": false, "isRoot": false, "parents": [ 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021199", "MEDGEN:1639275", "Orphanet:295002", "SCTID:763535005", "UMLS:C4706507", "icd11.foundation:177215174" ], "synonyms": [ "supernumerary phalanges", "supernumerary phalanx" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies." }, "child_count": 2, "reference_id": "MONDO:0017455" }, { "id": 17849, "label": "Prata-Liberal-Goncalves syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000491", "MEDGEN:419156", "Orphanet:2956", "UMLS:C2931761" ], "synonyms": [ "acrodysplasia scoliosis", "brachydactyly-scoliosis-carpal fusion syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984." }, "child_count": 0, "reference_id": "MONDO:0017568" }, { "id": 18158, "label": "syngnathia multiple anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005092", "MEDGEN:1678646", "Orphanet:3262", "UMLS:C5190737" ], "synonyms": [ "dobrow syndrome", "syngnathia-multiple anomalies syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0017980" }, { "id": 18175, "label": "hereditary thrombocytosis with transverse limb defect", "isLeaf": true, "isRoot": false, "parents": [ 10564, 18362, 18956, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021487", "MEDGEN:1653707", "Orphanet:329319", "UMLS:C4749944" ], "synonyms": [ "familial thrombocytosis with transverse limb defect", "thrombocythemia with distal limb defects" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." }, "child_count": 0, "reference_id": "MONDO:0018000" }, { "id": 18206, "label": "thalidomide embryopathy", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17143, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:759.89", "MEDGEN:98490", "MedDRA:10071249", "NCIT:C99082", "Orphanet:3312", "SCTID:36193003", "UMLS:C0432365", "icd11.foundation:299085643" ], "synonyms": [ "fetal thalidomide syndrome", "foetal thalidomide syndrome", "thalidomide embryopathy syndrome", "thalidomide-induced birth defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment." }, "child_count": 0, "reference_id": "MONDO:0018034" }, { "id": 18215, "label": "tibial aplasia-ectrodactyly syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001369", "MEDGEN:1639878", "Orphanet:3329", "UMLS:C4551989" ], "synonyms": [ "SHFLD syndrome", "SHFM associated with aplasia of long bones", "TH-SHFM", "aplasia of tibia with split-hand/split-foot deformity", "split hand/foot malformation with long bone deficiency", "split-hand/foot malformation associated with aplasia of long bones", "tibial hemimelia with split hand/foot malformation", "tibial hemimelia-ectrodactyly syndrome", "SHFLD", "aplasia of tibia with ectrodactyly", "ectrodactyly with aplasia of long bones", "split-hand/foot malformation with long bone deficiency", "tibial aplasia with split-hand/split-foot deformity" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia." }, "child_count": 9, "reference_id": "MONDO:0018050" }, { "id": 18358, "label": "bipartite talus", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021566", "MEDGEN:1631166", "Orphanet:364198", "SCTID:763128009", "UMLS:C4706298" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling." }, "child_count": 0, "reference_id": "MONDO:0018228" }, { "id": 18363, "label": "acrofacial dysostosis", "isLeaf": false, "isRoot": false, "parents": [ 5714, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060379", "GARD:0021574", "MEDGEN:272278", "NCIT:C35795", "Orphanet:364574", "UMLS:C1332140", "icd11.foundation:1702160042" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 42, "reference_id": "MONDO:0018237" }, { "id": 18573, "label": "adactyly of foot", "isLeaf": false, "isRoot": false, "parents": [ 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025131", "MEDGEN:539387", "Orphanet:435623", "SCTID:66345008", "UMLS:C0265641" ], "synonyms": [ "congenital absence of toes" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0018563" }, { "id": 18672, "label": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 18362, 24488 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017785", "Orphanet:453499" ], "synonyms": [ "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 8, "reference_id": "MONDO:0018681" }, { "id": 19058, "label": "Rubinstein-Taybi syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2961, 4427, 16087, 18362, 18956, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:7", "DOID:1933", "GARD:0007593", "ICD9:759.89", "MEDGEN:48517", "MESH:D012415", "MedDRA:10039281", "NANDO:1200461", "NANDO:2200955", "NCIT:C75466", "NORD:1682", "OMIMPS:180849", "Orphanet:783", "SCTID:45582004", "UMLS:C0035934", "icd11.foundation:692585833" ], "synonyms": [ "Broad thumb-hallux syndrome", "Broad thumbs-halluces syndrome", "Rubinstein-Taybi Syndrome", "RSTS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics." }, "child_count": 18, "reference_id": "MONDO:0019188" }, { "id": 19241, "label": "ischio-vertebral syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019052", "MEDGEN:903166", "Orphanet:85200", "SCTID:715654001", "UMLS:C4274732", "icd11.foundation:185911418" ], "synonyms": [ "ischio-spinal dysostosis", "ischio-vertebral dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0019413" }, { "id": 22739, "label": "congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 10564, 16087, 16471, 18362, 18956, 18958, 19279, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022071", "MEDGEN:1799320", "Orphanet:508542", "UMLS:C5567897" ], "synonyms": [ "MYSM1 deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033683" }, { "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": 25272, "label": "preaxial digit brachydactyly-webbed fingers", "isLeaf": true, "isRoot": false, "parents": [ 18362, 20260 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026648", "MEDGEN:1843425", "Orphanet:633211", "UMLS:C5816807" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859005" }, { "id": 25273, "label": "proximal femoral focal deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026649", "MEDGEN:609280", "Orphanet:633228", "UMLS:C0431996" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859006" }, { "id": 25300, "label": "dysostosis multiplex, Ain-Naz type", "isLeaf": true, "isRoot": false, "parents": [ 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026660", "MEDGEN:1780944", "OMIM:619345", "UMLS:C5444223" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859156" } ], "roots": [ { "id": 7153, "label": "bone development disease" } ] }