{ "id": 18360, "label": "skeletal dysplasia", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0018230", "properties": { "xrefs": [ "MEDGEN:98053", "Orphanet:364526", "UMLS:C0410528" ], "synonyms": [ "Mendelian skeletal dysplasia", "primary bone dysplasia", "primary osteodysplasia", "primary skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any Mendelian diseases that affects growth and development of the skeleton." }, "isLeaf": false, "isRoot": false, "child_count": 119, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 7061, "label": "bone disorder", "isLeaf": false, "isRoot": false, "parents": [ 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080001", "EFO:0004260", "ICD10CM:M80-M85", "ICD9:731.8", "ICD9:733.99", "MEDGEN:14182", "MESH:D001847", "NANDO:2100291", "NANDO:2100293", "SCTID:76069003", "UMLS:C0005940" ], "synonyms": [ "bone element disease", "bone element disease or disorder", "disease of bone element", "disease or disorder of bone element", "disorder of bone element", "rare bone disease related to a common gene or pathway defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Diseases of bones." }, "child_count": 27, "reference_id": "MONDO:0005381" } ], "children": [ { "id": 7171, "label": "osteochondrodysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7153, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2256", "EFO:0005571", "ICD9:756.4", "MEDGEN:10495", "MESH:D010009", "NCIT:C84978", "SCTID:105985007", "UMLS:C0029422" ], "synonyms": [ "skeletal dysplasia", "congenital skeletal dysplasia", "osteochondrodysplasia", "cartilage development disorder", "congenital anomaly of cartilage" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage." }, "child_count": 100, "reference_id": "MONDO:0005516" }, { "id": 8610, "label": "diaphyseal medullary stenosis-bone malignancy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18360, 18958, 21247, 24863 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080664", "GARD:0010072", "MEDGEN:350613", "NCIT:C122660", "OMIM:112250", "Orphanet:85182", "UMLS:C1862177" ], "synonyms": [ "DMS-MFH", "Hardcastle syndrome", "Hardcastle's syndrome", "bone dysplasia-medullary fibrosarcoma syndrome", "diaphyseal medullary stenosis-bone malignancy syndrome", "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome", "BDMF", "DMSMFH", "bone dysplasia with malignant fibrous histiocytoma", "bone dysplasia with medullary fibrosarcoma", "diaphyseal medullary stenosis with malignant fibrous histiocytoma", "myopathy, limb-girdle, with bone fragility" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." }, "child_count": 0, "reference_id": "MONDO:0007205" }, { "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": 8700, "label": "cerebrocostomandibular syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111248", "GARD:0006026", "ICD9:759.89", "MEDGEN:120537", "MESH:C562538", "NORD:914", "OMIM:117650", "Orphanet:1393", "SCTID:51780007", "UMLS:C0265342", "icd11.foundation:1475063064" ], "synonyms": [ "cerebrocostomandibular syndrome", "CCM syndrome", "CCMS", "CEREBROCOSTOMANDIBULAR syndrome", "cerebro-costo-mandibular syndrome", "rib Gap defects with micrognathia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." }, "child_count": 0, "reference_id": "MONDO:0007301" }, { "id": 8736, "label": "cleidorhizomelic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005532", "MEDGEN:350042", "MESH:C536428", "OMIM:119650", "Orphanet:1453", "SCTID:719471002", "UMLS:C1861515" ], "synonyms": [ "Wallis-Zieff-Goldblatt syndrome", "cleidorhizomelic syndrome", "rhizomelic shortness with clavicular defect", "Wallis Zieff Goldblatt syndrome", "brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle", "cleido rhizomelic syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." }, "child_count": 0, "reference_id": "MONDO:0007341" }, { "id": 8869, "label": "dyschondrosteosis-nephritis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001994", "MEDGEN:342135", "MESH:C565080", "OMIM:127350", "Orphanet:1765", "UMLS:C1851986" ], "synonyms": [ "dyschondrosteosis and nephritis", "dyschondrosteosis nephritis", "mesomelic shortening and hereditary nephritis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis." }, "child_count": 0, "reference_id": "MONDO:0007482" }, { "id": 8875, "label": "dysplasia epiphysealis hemimelica", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002019", "ICD9:756.59", "MEDGEN:96591", "MESH:C537997", "NORD:1072", "OMIM:127800", "Orphanet:1822", "SCTID:205480005", "UMLS:C0432282", "icd11.foundation:1995096940" ], "synonyms": [ "Trevor disease", "dysplasia epiphysealis hemimelica" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known." }, "child_count": 0, "reference_id": "MONDO:0007489" }, { "id": 8876, "label": "carpotarsal osteochondromatosis", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001128", "MEDGEN:377557", "MESH:C565076", "OMIM:127820", "Orphanet:2767", "SCTID:389272007", "UMLS:C1851956", "icd11.foundation:1406756925" ], "synonyms": [ "Maroteaux-Le Merrer-Bensahel syndrome", "Maroteaux Le Merrer Bensahel syndrome", "dominant carpotarsal osteochondromatosis", "dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas", "osteochondromatosis, dominant carpotarsal" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." }, "child_count": 0, "reference_id": "MONDO:0007490" }, { "id": 8923, "label": "Camurati-Engelmann disease", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4997", "GARD:0001072", "ICD10CM:Q78.3", "ICD9:756.59", "MEDGEN:4268", "NANDO:2200970", "NCIT:C84610", "NORD:885", "OMIMPS:131300", "Orphanet:1328", "SCTID:318761000119105", "UMLS:C0011989" ], "synonyms": [ "Camurati-Engelmann disease", "Camurati-Engelmann syndrome", "Camurati-Englemann disease", "progressive diaphyseal dysplasia", "CAEND", "CED", "DPD1", "Engelmann disease", "diaphyseal dysplasia 1, progressive" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." }, "child_count": 4, "reference_id": "MONDO:0007542" }, { "id": 9014, "label": "genochondromatosis", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010621", "MEDGEN:224887", "MESH:C563215", "OMIM:137360", "SCTID:389264005", "UMLS:C1300229", "icd11.foundation:1222756922" ], "synonyms": [ "genochondromatosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0007653" }, { "id": 9113, "label": "autosomal dominant osteosclerosis, Worth type", "isLeaf": true, "isRoot": false, "parents": [ 4308, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080037", "GARD:0000390", "MEDGEN:140932", "OMIM:144750", "OMIM:607636", "Orphanet:2790", "SCTID:254131007", "UMLS:C0432273", "icd11.foundation:1038854228" ], "synonyms": [ "Ostéosclérose autosomique dominante type Worth", "Worth syndrome", "Worth's syndrome", "endosteal hyperostosis, Worth type", "hyperostosis, endosteal", "VBCH2", "Van Buchem disease type 2", "Van Buchem disease, type 2", "endosteal hyperostosis, autosomal dominant", "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus", "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus", "osteosclerosis of the skull and enlarged mandible", "osteosclerosis, autosomal dominant", "osteosclerosis, autosomal dominant, Worth type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." }, "child_count": 0, "reference_id": "MONDO:0007764" }, { "id": 9177, "label": "coxopodopatellar syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111382", "GARD:0003030", "MEDGEN:333474", "MESH:C535540", "OMIM:147891", "Orphanet:1509", "SCTID:720752007", "UMLS:C1840061", "icd11.foundation:794154672" ], "synonyms": [ "Scott-Taor syndrome", "coxopodopatellar syndrome", "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension", "ischiopatellar dysplasia", "small patella syndrome", "Coxo-podo-patellar syndrome", "ICPPS", "SPS", "congenital coxa vara, patella aplasia and tarsal synostosis", "ischiocoxopodopatellar syndrome", "patella aplasia, coxa vara, tarsal synostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis." }, "child_count": 0, "reference_id": "MONDO:0007841" }, { "id": 9227, "label": "Lenz-Majewski hyperostotic dwarfism", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111507", "GARD:0003223", "MEDGEN:98483", "MESH:C537115", "OMIM:151050", "Orphanet:2658", "UMLS:C0432269", "icd11.foundation:1509425242" ], "synonyms": [ "Lenz-Majewski hyperostotic dwarfism", "LMHD", "Lenz Majewski hyperostotic dwarfism", "Lenz-Majewski hyperostotic dysplasia", "Lenz-Majewski syndrome", "hyperostotic dwarfism Lenz-Majewski type", "multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis", "multiple congenital anomalies, mental retardation and progressive skeletal sclerosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." }, "child_count": 0, "reference_id": "MONDO:0007892" }, { "id": 9299, "label": "delayed membranous cranial ossification", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001727", "MEDGEN:320502", "MESH:C563592", "OMIM:155980", "Orphanet:3034", "SCTID:715524004", "UMLS:C1835030", "icd11.foundation:766852360" ], "synonyms": [ "Gonzales-del Angel syndrome", "membranous cranial ossification, delayed" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development." }, "child_count": 0, "reference_id": "MONDO:0007971" }, { "id": 9310, "label": "metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111513", "GARD:0003568", "MEDGEN:762788", "OMIM:156510", "Orphanet:2504", "UMLS:C3549874" ], "synonyms": [ "MDMHB", "metaphyseal dysplasia maxillary hypoplasia brachydactyly", "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait." }, "child_count": 0, "reference_id": "MONDO:0007984" }, { "id": 9428, "label": "oculodentodigital dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7019, 16088, 18360, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060291", "GARD:0007239", "ICD9:759.89", "MEDGEN:167236", "MESH:C563160", "MedDRA:10063691", "NORD:1519", "OMIM:164200", "Orphanet:2710", "SCTID:38215007", "UMLS:C0812437" ], "synonyms": [ "Meyer-Schwickerath syndrome", "ODDD syndrome", "Oculo-Dento-Digital Dysplasia", "oculo-dento-digital dysplasia", "oculodentodigital dysplasia", "oculodentoosseous dysplasia", "odd syndrome", "ODDD", "oculo-dento-digital syndrome", "oculodentodigital syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." }, "child_count": 4, "reference_id": "MONDO:0008111" }, { "id": 9456, "label": "Ollier disease", "isLeaf": true, "isRoot": false, "parents": [ 18360, 18958, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4624", "GARD:0007251", "ICD10CM:Q78.4", "MEDGEN:41775", "MedDRA:10014642", "NANDO:2200049", "NANDO:2201015", "NCIT:C3008", "NORD:1526", "OMIM:166000", "Orphanet:296", "SCTID:268274005", "UMLS:C0014084", "icd11.foundation:1648299787" ], "synonyms": [ "Ollier disease", "Ollier type enchondromatosis", "Ollier's disease", "dyschondroplasia", "osteochondromatosis", "enchondromatosis", "enchondromatosis, multiple, Ollier type", "multiple cartilaginous enchondroses", "multiple enchondromatosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones." }, "child_count": 0, "reference_id": "MONDO:0008145" }, { "id": 9461, "label": "osteoglophonic dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111532", "GARD:0004142", "MEDGEN:96592", "MESH:C536050", "OMIM:166250", "Orphanet:2645", "SCTID:254144002", "UMLS:C0432283", "icd11.foundation:1427874962" ], "synonyms": [ "FGFR1-related osteoglophonic dysplasia", "OGD", "osteoglophonic dwarfism", "osteoglophonic dysplasia", "Fairbank-Keats syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." }, "child_count": 0, "reference_id": "MONDO:0008150" }, { "id": 9507, "label": "parietal foramina with cleidocranial dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017207", "MEDGEN:401479", "MESH:C566825", "OMIM:168550", "Orphanet:251290", "UMLS:C1868597" ], "synonyms": [ "parietal foramina with cleidocranial dysostosis", "parietal foramina with cleidocranial dysplasia", "PFMCCD", "cleidocranial dysplasia with parietal foramina", "parietal foramina with clavicular hypoplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported." }, "child_count": 0, "reference_id": "MONDO:0008198" }, { "id": 9515, "label": "chondromalacia patellae", "isLeaf": true, "isRoot": false, "parents": [ 4445, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13357", "GARD:0024609", "ICD10CM:M22.4", "ICD9:717.7", "MEDGEN:939", "MESH:D046789", "OMIM:168900", "Orphanet:1428", "SCTID:36071006", "UMLS:C0008475", "icd11.foundation:1589625540" ], "synonyms": [ "chondromalacia of patella", "chondromalacia patellae", "patella chondromalacia", "familial chondromalacia patellae", "patella, chondromalacia OF" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." }, "child_count": 0, "reference_id": "MONDO:0008207" }, { "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": 9624, "label": "Proteus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17900, 18360, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13482", "GARD:0007475", "ICD9:759.89", "MEDGEN:39008", "MESH:D016715", "NCIT:C85032", "NORD:1622", "OMIM:176920", "Orphanet:744", "SCTID:23150001", "UMLS:C0085261", "icd11.foundation:760267333" ], "synonyms": [ "Proteus syndrome", "Wiedemann's syndrome", "partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome", "proteus syndrome, somatic", "Elattoproteus syndrome", "gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly", "hemihypertrophy and macrocephaly", "partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." }, "child_count": 0, "reference_id": "MONDO:0008318" }, { "id": 9811, "label": "brachydactyly-elbow wrist dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7153, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000966", "MEDGEN:396103", "MESH:C566090", "OMIM:186550", "Orphanet:1275", "SCTID:764437006", "UMLS:C1861313" ], "synonyms": [ "Liebenberg syndrome", "brachydactyly-joint dysplasia syndrome", "LBNBG", "LIEBENBERG syndrome", "brachydactyly elbow wrist dysplasia", "brachydactyly with Joint dysplasia", "brachydactyly with joint dysplasia", "carpal synostosis with dysplastic elbow joints and brachydactyly", "synostosis, carpal, with dysplastic elbow joints and brachydactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported." }, "child_count": 0, "reference_id": "MONDO:0008520" }, { "id": 9878, "label": "tricho-dento-osseous syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18360, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111565", "GARD:0007799", "ICD9:759.89", "MEDGEN:78555", "MESH:C536549", "NORD:1786", "OMIM:190320", "Orphanet:3352", "SCTID:38993008", "UMLS:C0265333", "icd11.foundation:131993435" ], "synonyms": [ "TDO", "TDO syndrome", "TRICHODENTOOSSEOUS syndrome", "Tricho Dento Osseous Syndrome", "TDO syndrome 1", "Tricho-dento-osseous syndrome 1", "enamel hypoplasia and hypocalcification with associated strikingly curly hair", "kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull." }, "child_count": 0, "reference_id": "MONDO:0008592" }, { "id": 10135, "label": "bird headed-dwarfism, Montreal type", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000895", "MEDGEN:347890", "MESH:C535448", "OMIM:210700", "Orphanet:2617", "UMLS:C1859468" ], "synonyms": [ "Bird-headed dwarfism with features of premature senility", "Bird-headed dwarfism, Montreal type", "microcephalic primordial dwarfism, Montreal type", "premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms", "premature senility, premature greying and loss of scalp hair and wrinkled skin of the palms" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970." }, "child_count": 0, "reference_id": "MONDO:0008870" }, { "id": 10252, "label": "Yunis-Varon syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060589", "GARD:0000331", "MEDGEN:341818", "MESH:C536719", "NORD:1875", "OMIM:216340", "Orphanet:3472", "UMLS:C1857663", "icd11.foundation:1696991249" ], "synonyms": [ "Yunis Varon Syndrome", "Yunis Varon syndrome", "Yunis-Varon syndrome", "Yunis-Varón syndrome", "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia", "cleidocranial dysplasia-micrognathia-absent thumbs syndrome", "YVS", "cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person." }, "child_count": 0, "reference_id": "MONDO:0008995" }, { "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": 10515, "label": "ghosal hematodiaphyseal dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112251", "GARD:0010297", "ICD9:756.59", "MEDGEN:344739", "MESH:C565551", "OMIM:231095", "Orphanet:1802", "SCTID:389214003", "UMLS:C1856465" ], "synonyms": [ "Ghosal syndrome", "diaphyseal dysplasia-anemia syndrome", "ghosal hematodiaphyseal dysplasia", "GHDD", "GHOSAL hematodiaphyseal dysplasia", "Ghosal hematodiaphyseal dysplasia syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia." }, "child_count": 0, "reference_id": "MONDO:0009274" }, { "id": 10627, "label": "hyperostosis corticalis generalisata", "isLeaf": true, "isRoot": false, "parents": [ 4308, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080036", "GARD:0002833", "MEDGEN:98484", "NCIT:C131812", "OMIM:239100", "Orphanet:3416", "SCTID:59763006", "UMLS:C0432272", "icd11.foundation:241514592" ], "synonyms": [ "Van Buchem disease", "endosteal hyperostosis", "hyperostosis corticalis generalisata", "hyperphosphatasemia tarda", "van Buchem disease", "van Buchem disease type 1", "SOST-related sclerosing bone dysplasia", "VAN Buchem disease", "VBCH", "endosteal hyperostosis autosomal recessive", "endosteal hyperostosis, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies." }, "child_count": 0, "reference_id": "MONDO:0009395" }, { "id": 10735, "label": "Larsen-like syndrome, B3GAT3 type", "isLeaf": true, "isRoot": false, "parents": [ 16168, 16198, 18360, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080575", "GARD:0017308", "MEDGEN:480034", "MESH:C537874", "OMIM:245600", "Orphanet:284139", "UMLS:C3278404" ], "synonyms": [ "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects", "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "JDSCD", "Larsen syndrome, autosomal recessive", "Larsen syndrome, autosomal recessive, formerly", "multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects", "multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects", "multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." }, "child_count": 0, "reference_id": "MONDO:0009511" }, { "id": 10809, "label": "mesomelic dwarfism-cleft palate-camptodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003552", "MEDGEN:340833", "MESH:C565404", "OMIM:249710", "Orphanet:2631", "SCTID:715471007", "UMLS:C1855273" ], "synonyms": [ "Reardon-Hall-Slaney syndrome", "mesomelic dysplasia, Kozlowski-Reardon type", "mesomelic dysplasia, Reardon type", "mesomelic dwarfism cleft palate camptodactyly", "mesomelic limb shortening and bowing" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009589" }, { "id": 10812, "label": "metaphyseal acroscyphodysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003519", "MEDGEN:344453", "MESH:C537350", "OMIM:250215", "Orphanet:1240", "UMLS:C1855243", "icd11.foundation:1994645064" ], "synonyms": [ "Bellini syndrome", "intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome", "metaphyseal acroscyphodysplasia", "Bellini Chiumello Rimoldi syndrome", "cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly", "wedge-Shaped epiphyses of knees", "wedge-shaped epiphyses of knees", "wedge-shaped epiphyses of the knees with intellectual disability and short stature", "wedge-shaped epiphyses of the knees with mental retardation and short stature" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." }, "child_count": 0, "reference_id": "MONDO:0009592" }, { "id": 10819, "label": "metaphyseal dysostosis-intellectual disability-conductive deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003566", "MEDGEN:344437", "MESH:C565396", "OMIM:250420", "Orphanet:2502", "UMLS:C1855175" ], "synonyms": [ "metaphyseal dysostosis intellectual disability conductive deafness", "metaphyseal dysostosis mental retardation conductive deafness", "metaphyseal dysostosis, conductive hearing loss and intellectual disability", "metaphyseal dysostosis, conductive hearing loss and mental retardation", "metaphyseal dysostosis, intellectual disability, and conductive deafness", "metaphyseal dysostosis, mental retardation, and conductive deafness" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009599" }, { "id": 11010, "label": "familial osteodysplasia, Anderson type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004136", "MEDGEN:337990", "MESH:C564923", "OMIM:259250", "Orphanet:2769", "UMLS:C1850186", "icd11.foundation:107132680" ], "synonyms": [ "osteodysplasia familial Anderson type", "osteodysplasia, familial, Anderson type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982." }, "child_count": 0, "reference_id": "MONDO:0009801" }, { "id": 11117, "label": "pseudodiastrophic dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18360, 19507 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009463", "ICD9:756.9", "MEDGEN:140924", "MESH:C535826", "OMIM:264180", "Orphanet:85174", "SCTID:254058002", "UMLS:C0432206", "icd11.foundation:902021042" ], "synonyms": [ "pseudodiastrophic dysplasia", "Pseudodiastrophic dwarfism" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy." }, "child_count": 0, "reference_id": "MONDO:0009914" }, { "id": 11192, "label": "rhizomelic syndrome, Urbach type", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004705", "MEDGEN:376574", "MESH:C537611", "OMIM:268250", "Orphanet:3098", "UMLS:C1849382" ], "synonyms": [ "familial rhizomelic dysplasia", "rhizomelic dysplasia, familial", "rhizomelic syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies." }, "child_count": 0, "reference_id": "MONDO:0009996" }, { "id": 11193, "label": "Richieri Costa-Pereira syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004718", "MEDGEN:336581", "MESH:C535677", "OMIM:268305", "Orphanet:3102", "SCTID:723998001", "UMLS:C1849348", "icd11.foundation:107084177" ], "synonyms": [ "Richieri Costa-Pereira syndrome", "short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome", "short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome", "ROBIN sequence with cleft mandible and limb anomalies", "Richieri Costa Pereira syndrome", "Richieri-Costa and Pereira form of acrofacial dysostosis", "Richieri-Costa-Pereira syndrome", "short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009998" }, { "id": 11208, "label": "craniometadiaphyseal dysplasia, wormian bone type", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016737", "MEDGEN:1382152", "OMIM:269300", "Orphanet:85184", "SCTID:278833002", "UMLS:C4510809", "icd11.foundation:1055011248" ], "synonyms": [ "Schwartz-Lelek syndrome", "CRANIOMETADIAPHYSEAL dysplasia", "CRMDD" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted." }, "child_count": 0, "reference_id": "MONDO:0010014" }, { "id": 11375, "label": "Weaver syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 18360, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14731", "GARD:0007878", "GTR:AN0102079", "GTR:AN0102080", "ICD9:759.89", "MEDGEN:120511", "MESH:C536687", "NANDO:1200659", "NANDO:2200957", "NCIT:C125599", "NORD:1839", "OMIM:277590", "Orphanet:3447", "SCTID:63119004", "UMLS:C0265210", "icd11.foundation:2042913723" ], "synonyms": [ "Weaver syndrome", "camptodactyly-overgrowth-unusual facies syndrome", "EZH2 related overgrowth", "WEAVER syndrome", "WVS", "Weaver Smith syndrome", "Weaver Williams syndrome", "Weaver like syndrome", "Weaver-Smith syndrome", "Weaver-like syndrome", "camptodactyly - overgrowth - unusual facies", "intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate", "mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate", "overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry." }, "child_count": 0, "reference_id": "MONDO:0010193" }, { "id": 11533, "label": "SHOX-related short stature", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112120", "GARD:0017434", "MEDGEN:375584", "MESH:C564479", "OMIM:300582", "Orphanet:314795", "SCTID:763868006", "UMLS:C1845118" ], "synonyms": [ "short stature, idiopathic familial", "ISS", "short stature, idiopathic, X-linked" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never." }, "child_count": 0, "reference_id": "MONDO:0010367" }, { "id": 11724, "label": "craniofrontonasal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360, 20691 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14737", "GARD:0001578", "MEDGEN:65095", "MESH:C536456", "NORD:1012", "OMIM:304110", "Orphanet:1520", "SCTID:715421009", "UMLS:C0220767" ], "synonyms": [ "CFND", "CFNS", "Craniofrontonasal Dysplasia", "craniofrontonasal dysplasia", "craniofrontonasal dysplasia, X-linked dominant", "craniofrontonasal syndrome", "craniofrontonasal dysostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism." }, "child_count": 0, "reference_id": "MONDO:0010570" }, { "id": 11940, "label": "Eiken syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111732", "GARD:0016698", "MEDGEN:325097", "MESH:C564010", "OMIM:600002", "Orphanet:79106", "SCTID:720863002", "UMLS:C1838779", "icd11.foundation:467339994" ], "synonyms": [ "Eiken syndrome", "Eiken skeletal dysplasia", "bone modeling defect of hands and feet", "bone modelling defect of hands and feet" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family." }, "child_count": 0, "reference_id": "MONDO:0010803" }, { "id": 12020, "label": "2q37 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17320, 18360, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:44", "DOID:0111704", "GARD:0010202", "ICD9:758.39", "MEDGEN:419169", "MESH:C538317", "NCIT:C129021", "OMIM:600430", "Orphanet:1001", "SCTID:702357000", "UMLS:C2931817" ], "synonyms": [ "2q37 microdeletion syndrome", "2q37 monosomy", "Albright hereditary osteodystrophy type 3", "Albright hereditary osteodystrophy-like syndrome", "BDMR", "Del(2)(q37)", "brachydactyly intellectual disability syndrome", "brachydactyly mental retardation syndrome", "brachydactyly-intellectual disability syndrome", "deletion 2q37", "deletion 2q37-qter", "monosomy 2q37-qter", "2q37 deletion syndrome", "brachydactyly-mental retardation syndrome", "chromosome 2q37 deletion syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0010886" }, { "id": 12137, "label": "skeletal dysplasia-epilepsy-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000350", "MEDGEN:208660", "MESH:C537625", "OMIM:601187", "Orphanet:1858", "SCTID:715428003", "UMLS:C0796046" ], "synonyms": [ "Gurrieri-Sammito-Bellussi syndrome", "GURRIERI syndrome", "intellectual disability, epilepsy, short stature and skeletal dysplasia", "mental retardation, epilepsy, short stature and skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0011011" }, { "id": 12205, "label": "rhizomelic dysplasia, Patterson-Lowry type", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004703", "MEDGEN:321940", "MESH:C537609", "OMIM:601438", "Orphanet:2831", "SCTID:715505002", "UMLS:C1832359", "icd11.foundation:1681747199" ], "synonyms": [ "rhizomelic dysplasia, Patterson-Lowry type", "Patterson Lowry syndrome", "Patterson-Lowry rhizomelic dysplasia", "rhizomelic dysplasia Patterson Lowry type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia." }, "child_count": 0, "reference_id": "MONDO:0011079" }, { "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": 12364, "label": "Marshall-Smith syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 18360, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050858", "GARD:0006985", "ICD9:759.89", "MEDGEN:75551", "MESH:C536026", "OMIM:602535", "Orphanet:561", "SCTID:73284007", "UMLS:C0265211", "icd11.foundation:417951600" ], "synonyms": [ "Marshall-Smith syndrome", "accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome", "MRSHSS", "Marshall-SMITH syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth." }, "child_count": 0, "reference_id": "MONDO:0011244" }, { "id": 12702, "label": "baby rattle pelvis dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009289", "MEDGEN:340083", "MESH:C537794", "MESH:C565282", "OMIM:605838", "UMLS:C1853911" ], "synonyms": [ "baby rattle pelvic dysplasia", "baby rattle pelvis dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011606" }, { "id": 12716, "label": "metaphyseal dysplasia, Braun-Tinschert type", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016738", "MEDGEN:381277", "MESH:C565271", "OMIM:605946", "Orphanet:85188", "SCTID:717221005", "UMLS:C1853825" ], "synonyms": [ "metaphyseal dysplasia, Braun-Tinschert type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions." }, "child_count": 0, "reference_id": "MONDO:0011620" }, { "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": 12888, "label": "osteofibrous dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010887", "MEDGEN:895748", "MESH:C563276", "MESH:C563787", "NCIT:C53970", "OMIM:607278", "OMIM:609143", "Orphanet:488265", "UMLS:C4085248" ], "synonyms": [ "Kempson-Campanacci lesion", "OFD", "OSFD", "cortical fibrous dysplasia", "ossifying fibroma of long bones", "osteofibrous dysplasia", "osteofibrous dysplasia of bone", "tibia, bowing of, with pseudarthrosis and pectus excavatum", "osteofibrous dysplasia, susceptibility to" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases." }, "child_count": 0, "reference_id": "MONDO:0011806" }, { "id": 13123, "label": "Larsen-like osseous dysplasia-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016595", "MEDGEN:325280", "MESH:C563914", "OMIM:608545", "Orphanet:2370", "UMLS:C1837884" ], "synonyms": [ "Larsen-like syndrome, isolated cases", "Larsen-like syndrome", "Lrsl" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia." }, "child_count": 0, "reference_id": "MONDO:0012055" }, { "id": 14032, "label": "pancreatic insufficiency-anemia-hyperostosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3874, 18360, 19232, 22753 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017095", "MEDGEN:436369", "MESH:C567195", "OMIM:612714", "Orphanet:199337", "SCTID:722207000", "UMLS:C2675184" ], "synonyms": [ "pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome", "exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare syndromic mitochondrial disease in which the cause of the disease is a mutation in the COX4I2 gene. It is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis." }, "child_count": 0, "reference_id": "MONDO:0012992" }, { "id": 15053, "label": "microcephalic primordial dwarfism due to ZNF335 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 17129, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070294", "GARD:0017498", "MEDGEN:767413", "OMIM:615095", "Orphanet:329228", "SCTID:724141003", "UMLS:C3554499" ], "synonyms": [ "microcephalic primordial dwarfism, Walsh type", "MCPH10", "microcephaly 10, primary, autosomal recessive", "primary autosomal recessive microcephaly 10" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." }, "child_count": 0, "reference_id": "MONDO:0014043" }, { "id": 15202, "label": "Hartsfield-Bixler-Demyer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002725", "MEDGEN:335111", "MESH:C564484", "OMIM:615465", "Orphanet:2117", "SCTID:766032007", "UMLS:C1845146" ], "synonyms": [ "Hartsfield-Bixler-Demyer syndrome", "holoprosencephaly-ectrodactyly-cleft lip palate syndrome", "holoprosencephaly-ectrodactyly-cleft lip/palate syndrome", "HARTSFIELD syndrome", "HRTFDS", "holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014196" }, { "id": 15382, "label": "colobomatous microphthalmia-rhizomelic dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16704, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111802", "GARD:0017707", "MEDGEN:862977", "OMIM:615877", "Orphanet:424099", "UMLS:C4014540" ], "synonyms": [ "microphthalmia, syndromic type 14", "microphthalmia-coloboma-rhizomelic skeletal dysplasia", "MCOPS14", "MCSKS", "microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia", "microphthalmia or coloboma with or without rhizomelic skeletal dysplasia", "microphthalmia, syndromic 14", "microphthalmia/coloboma and skeletal dysplasia syndrome" ], "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": "Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present." }, "child_count": 0, "reference_id": "MONDO:0014380" }, { "id": 15384, "label": "Tatton-Brown-Rahman overgrowth syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112339", "GARD:0017674", "MEDGEN:862982", "OMIM:615879", "Orphanet:404443", "SCTID:768843007", "UMLS:C4014545" ], "synonyms": [ "DNMT3A-related overgrowth syndrome", "Tatton Brown Rahman Syndrome", "Tatton-Brown-Rahman overgrowth syndrome", "tall stature-intellectual disability-facial dysmorphism syndrome", "TATTON-BROWN-Rahman syndrome", "TBRS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare multiple congenital anomalies syndrome characterized by greater height, mild to moderate intellectual disability and distinctive facial appearance like round face, heavy, horizontal eyebrows and narrow palpebral fissures." }, "child_count": 0, "reference_id": "MONDO:0014382" }, { "id": 15403, "label": "tall stature-scoliosis-macrodactyly of the great toes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070316", "GARD:0017495", "MEDGEN:863127", "OMIM:615923", "Orphanet:329191", "UMLS:C4014690" ], "synonyms": [ "tall stature-scoliosis-macrodactyly of the halluces syndrome", "ECDM", "Miura type epiphyseal chondrodysplasia", "epiphyseal chondrodysplasia, MIURA type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis." }, "child_count": 0, "reference_id": "MONDO:0014401" }, { "id": 15506, "label": "Catel-Manzke syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081122", "GARD:0000028", "MEDGEN:375536", "MESH:C535347", "NORD:901", "OMIM:302380", "OMIM:616145", "Orphanet:1388", "SCTID:722383001", "UMLS:C1844887", "icd11.foundation:1023183031" ], "synonyms": [ "Catel Manzke Syndrome", "Catel-Manzke syndrome", "Palatodigital syndrome, Catel-Manzke type", "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome", "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome", "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome", "index finger anomaly-Pierre Robin syndrome", "micrognathia digital syndrome", "CATMANS", "Catel Manzke syndrome", "Palatodigital syndrome Catel-Manzke type", "Pierre Robin syndrome with hyperphalangy and clinodactyly", "index finger anomaly with Pierre Robin syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis." }, "child_count": 0, "reference_id": "MONDO:0014507" }, { "id": 15607, "label": "cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012845", "MEDGEN:894554", "OMIM:616368", "Orphanet:444077", "SCTID:764455002", "UMLS:C4085597" ], "synonyms": [ "CHOPS syndrome", "CHOPS", "cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014609" }, { "id": 15698, "label": "skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017860", "MEDGEN:896409", "OMIM:616592", "Orphanet:477831", "UMLS:C4225270" ], "synonyms": [ "Kosaki overgrowth syndrome", "KOGS", "skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014704" }, { "id": 15808, "label": "complex lethal osteochondrodysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017807", "MEDGEN:900688", "OMIM:616897", "Orphanet:457378", "UMLS:C4225162" ], "synonyms": [ "Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type", "OCLSBG", "osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type", "osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014821" }, { "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": 16101, "label": "metaphyseal anadysplasia", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003562", "ICD9:756.9", "MEDGEN:96582", "MESH:C537351", "OMIM:309645", "Orphanet:1040", "SCTID:254085009", "UMLS:C0432226", "icd11.foundation:327336919" ], "synonyms": [ "Maroteaux-Verloes-Stanescu syndrome", "regressive metaphyseal dysplasia", "MAD", "Maroteaux Verloes Stanescu syndrome", "early-onset regressive form of metaphyseal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." }, "child_count": 1, "reference_id": "MONDO:0015177" }, { "id": 16201, "label": "syndromic craniosynostosis", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16310, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019911", "MEDGEN:1842203", "Orphanet:139393", "UMLS:C5680624" ], "synonyms": [ "syndrome associated with craniosynostosis", "syndromic craniosynostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A craniosynostosis that is part of a larger syndrome." }, "child_count": 120, "reference_id": "MONDO:0015338" }, { "id": 16303, "label": "thin ribs-tubular bones-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018727", "MEDGEN:419105", "MESH:C537595", "Orphanet:1506", "UMLS:C2931543" ], "synonyms": [ "Sharma-Kapoor-Ramji syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015462" }, { "id": 16449, "label": "dysplasia of head of femur, Meyer type", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020098", "MEDGEN:909364", "Orphanet:168621", "SCTID:715861004", "UMLS:C4274970", "icd11.foundation:381445908" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis." }, "child_count": 0, "reference_id": "MONDO:0015678" }, { "id": 16608, "label": "epimetaphyseal skeletal dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:1819" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015907" }, { "id": 16638, "label": "melorheostosis with osteopoikilosis", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003690", "MEDGEN:461045", "MESH:C563593", "Orphanet:1879", "UMLS:C3149695", "icd11.foundation:152942585" ], "synonyms": [ "MSBD syndrome", "mixed sclerosing bone dystrophy", "dystrophy osseous sclerosing mixed" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." }, "child_count": 0, "reference_id": "MONDO:0015995" }, { "id": 16712, "label": "Cole-Carpenter syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16089, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060438", "GARD:0001425", "MEDGEN:350614", "MESH:C535963", "NCIT:C130985", "OMIMPS:112240", "Orphanet:2050", "UMLS:C1862178", "icd11.foundation:1458793358" ], "synonyms": [ "bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome", "Cole Carpenter syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)." }, "child_count": 6, "reference_id": "MONDO:0016085" }, { "id": 17208, "label": "spondylometaphyseal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112295", "GARD:0018685", "MEDGEN:1674850", "OMIMPS:184255", "Orphanet:254", "UMLS:C4759767", "icd11.foundation:181781948" ], "synonyms": [ "spondylometaphyseal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life." }, "child_count": 19, "reference_id": "MONDO:0016763" }, { "id": 17496, "label": "omodysplasia", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060288", "GARD:0016608", "MEDGEN:1388973", "OMIMPS:258315", "Orphanet:2733", "SCTID:725164008", "UMLS:C4510897", "icd11.foundation:1081897527" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs." }, "child_count": 2, "reference_id": "MONDO:0017136" }, { "id": 17537, "label": "Bruck syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060231", "GARD:0001029", "ICD9:733.99", "MEDGEN:609420", "MedDRA:10063718", "OMIMPS:259450", "Orphanet:2771", "SCTID:254113006", "UMLS:C0432253", "icd11.foundation:1783996418" ], "synonyms": [ "osteogenesis imperfecta-congenital joint contractures syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures." }, "child_count": 4, "reference_id": "MONDO:0017195" }, { "id": 17540, "label": "osteopetrosis", "isLeaf": false, "isRoot": false, "parents": [ 18360, 23099 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13533", "GARD:0004155", "HP:0011002", "ICD10CM:Q78.2", "ICD9:756.52", "MEDGEN:18223", "MESH:D010022", "MedDRA:10031280", "NANDO:1200998", "NANDO:2201013", "NCIT:C26840", "NORD:1538", "Orphanet:2781", "SCTID:1926006", "UMLS:C0029454", "icd11.foundation:1498426606" ], "synonyms": [ "Albers-Schonberg disease", "marble bone disease", "marble bones", "osteopetrosis", "osteopetrosis (disease)", "Albers-Schoenberg disease", "osteopetroses", "osteopetrosis and related disorders", "osteosclerosis fragilis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." }, "child_count": 22, "reference_id": "MONDO:0017198" }, { "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": 18084, "label": "chondroectodermal dysplasia with night blindness", "isLeaf": true, "isRoot": false, "parents": [ 7019, 18360, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021408", "MEDGEN:1641815", "Orphanet:319195", "UMLS:C4706300" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates." }, "child_count": 0, "reference_id": "MONDO:0017869" }, { "id": 18364, "label": "TRPV4-related bone disorder", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021577", "MEDGEN:1842686", "NANDO:2201021", "Orphanet:364820", "UMLS:C5680977" ], "synonyms": [ "TRPV4-related skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0018240" }, { "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": 18576, "label": "short stature-advanced bone age-early-onset osteoarthritis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017717", "MEDGEN:1811782", "Orphanet:435804", "UMLS:C5681177" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018566" }, { "id": 18843, "label": "McCune-Albright syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1858", "GARD:0006995", "MEDGEN:69164", "NANDO:2200412", "NCIT:C48627", "NORD:1413", "OMIM:174800", "Orphanet:562", "SCTID:726029005", "UMLS:C0242292", "icd11.foundation:132749439" ], "synonyms": [ "Albright's disease", "MAS", "McCune Albright Syndrome", "McCune Albright syndrome", "gonadotropin-independent female-limited sexual precocity", "mccune-albright syndrome, somatic, mosaic", "PFD", "POFD", "polyostotic fibrous dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP)." }, "child_count": 0, "reference_id": "MONDO:0018919" }, { "id": 18875, "label": "parietal foramina", "isLeaf": false, "isRoot": false, "parents": [ 18236, 18360, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060285", "GARD:0016662", "HP:0002697", "MESH:C566826", "OMIMPS:168500", "Orphanet:60015", "SCTID:718099006", "icd11.foundation:905361904" ], "synonyms": [ "catlin marks", "enlarged parietal foramina", "fenestrae parietales symmetricae", "foramina parietalia permagna", "hereditary cranium bifidum", "parietal foramina", "symmetric parietal foramina" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." }, "child_count": 9, "reference_id": "MONDO:0018953" }, { "id": 19186, "label": "Sotos syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 17323, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:17", "DOID:0112103", "DOID:14748", "GARD:0010091", "MEDGEN:61232", "MESH:D058495", "MedDRA:10064387", "NANDO:1200679", "NANDO:2200953", "NCIT:C75019", "NORD:1727", "OMIM:117550", "OMIMPS:117550", "Orphanet:821", "SCTID:75968004", "UMLS:C0175695", "icd11.foundation:1887392960" ], "synonyms": [ "NSD1 Sotos syndrome", "Sotos syndrome", "Sotos syndrome 1", "Sotos syndrome caused by mutation in NSD1", "Sotos syndrome type 1", "Sotos' syndrome", "cerebral gigantism", "cerebral gigantism syndrome", "chromosome 5q35 deletion syndrome", "SOTOS1", "distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0019349" }, { "id": 19240, "label": "dysspondyloenchondromatosis", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019051", "MEDGEN:928217", "Orphanet:85198", "SCTID:722434004", "UMLS:C4302548", "icd11.foundation:942697844" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry." }, "child_count": 0, "reference_id": "MONDO:0019412" }, { "id": 19378, "label": "autosomal recessive cutis laxa type 2", "isLeaf": false, "isRoot": false, "parents": [ 7611, 16198, 17672, 18360, 23977 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019134", "MEDGEN:609467", "Orphanet:90350", "UMLS:C0432337" ], "synonyms": [ "ARCL2", "cutis laxa with joint laxity and developmental delay" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS)." }, "child_count": 20, "reference_id": "MONDO:0019573" }, { "id": 19469, "label": "FGFR3-related chondrodysplasia", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019185", "MEDGEN:1842866", "Orphanet:93420", "UMLS:C5681604" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 5, "reference_id": "MONDO:0019685" }, { "id": 19470, "label": "filamin-related bone disorder", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019190", "MEDGEN:1842239", "Orphanet:93425", "UMLS:C5680280" ], "synonyms": [ "bone filaminopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0019690" }, { "id": 19471, "label": "short rib dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016822", "ICD9:756.3", "MEDGEN:609403", "Orphanet:93426", "SCTID:254050009", "UMLS:C0432195" ], "synonyms": [ "SRP", "short-rib dysplasia (with or without polydactyly)", "ciliopathies with major skeletal involvement" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 8, "reference_id": "MONDO:0019691" }, { "id": 19472, "label": "spondylodysplastic dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019193", "MEDGEN:1843363", "Orphanet:93434", "UMLS:C4736216", "icd11.foundation:329165933" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 9, "reference_id": "MONDO:0019694" }, { "id": 19473, "label": "acromelic dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019194", "MEDGEN:1843369", "Orphanet:93436", "UMLS:C4736195", "icd11.foundation:177141175" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 18, "reference_id": "MONDO:0019695" }, { "id": 19475, "label": "bent bone dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019196", "ICD9:756.59", "MEDGEN:609415", "Orphanet:93439", "SCTID:254095002", "UMLS:C0432238" ], "synonyms": [ "campomelic dysplasia and related disorders" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 11, "reference_id": "MONDO:0019698" }, { "id": 19476, "label": "chondrodysplasia punctata", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2581", "GARD:0008542", "ICD10CM:Q77.3", "ICD9:756.59", "MEDGEN:3052", "MESH:D002806", "NANDO:2201017", "NCIT:C84632", "Orphanet:93442", "SCTID:360507004", "UMLS:C0008445", "icd11.foundation:1923035846" ], "synonyms": [ "CDP", "chondrodysplasia calcificans congenita", "chondrodysplasia punctata (stippled epiphyses) Group", "chondrodysplasia punctata congenita" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis." }, "child_count": 8, "reference_id": "MONDO:0019701" }, { "id": 19478, "label": "primary osteolysis", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019204", "MEDGEN:1843089", "Orphanet:93449", "UMLS:C5559806", "icd11.foundation:285636466" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 14, "reference_id": "MONDO:0019707" }, { "id": 19479, "label": "non-syndromic limb reduction defect", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019210", "MEDGEN:1842256", "Orphanet:93457", "UMLS:C5680277" ], "synonyms": [ "non-syndromic limb hypoplasia", "nonsyndromic limb reduction defect", "isolated limb reduction defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 40, "reference_id": "MONDO:0019713" }, { "id": 19689, "label": "Robinow syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16088, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060254", "GARD:0000312", "MEDGEN:78535", "NCIT:C85048", "NORD:1673", "OMIMPS:268310", "Orphanet:97360", "UMLS:C0265205", "icd11.foundation:1010745722" ], "synonyms": [ "Robinow dwarfism", "Robinow-Silverman-Smith syndrome", "acral dysostosis with facial and genital abnormalities", "fetal face syndrome", "foetal face syndrome", "mesomelic dwarfism-small genitalia syndrome", "Covesdem syndrome (formerly)", "costovertebral segmentation defect with mesomelia (formerly)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." }, "child_count": 9, "reference_id": "MONDO:0019978" }, { "id": 20703, "label": "synpolydactyly", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005087", "MEDGEN:437845", "MESH:C538153", "NCIT:C125597", "NCIT:C75003", "Orphanet:93403", "SCTID:715724002", "SCTID:84598000", "UMLS:C2699746" ], "synonyms": [ "polysyndactyly", "syndactyly type 2", "synpolydactyly", "SPD" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits)." }, "child_count": 1, "reference_id": "MONDO:0021651" }, { "id": 20748, "label": "acrocoxomesomelic dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "synonyms": [ "acro-coxo-mesomelic dwarfism" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine." }, "child_count": 0, "reference_id": "MONDO:0021762" }, { "id": 20899, "label": "bone dysplasia Moore type", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022586" }, { "id": 20900, "label": "bone dysplasia corpus callosum agenesis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18360 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022587" }, { "id": 20997, "label": "type 2 collagenopathy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6394, 18360, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019186", "HGNC:2200", "MEDGEN:419326", "MESH:C535964", "NANDO:2201016", "Orphanet:93421", "UMLS:C2931073" ], "synonyms": [ "COL2A1 disease or disorder", "collagenopathy type 2 alpha 1", "disease or disorder caused by mutation in COL2A1", "COL2A1", "cartilage collagen", "collagen II" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene." }, "child_count": 56, "reference_id": "MONDO:0022800" }, { "id": 23386, "label": "LRP5-related primary osteoporosis", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022031", "MEDGEN:1798664", "Orphanet:498481", "UMLS:C5567241" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044675" }, { "id": 24315, "label": "SLC26A2-related skeletal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any skeletal disorder in which the cause of the disease is a variant in the SLC26A2 gene. This includes SLC26A2-related achondrogenesis, SLC26A2-related atelosteogenesis, SLC26A2-related diastrophic dysplasia, and SLC26A2-related multiple epiphyseal dysplasia." }, "child_count": 4, "reference_id": "MONDO:0100592" }, { "id": 24316, "label": "COMP-related skeletal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any skeletal disorder in which the cause of the disease is a variant in the COMP gene. This includes pseudoachondroplasia and multiple epiphyseal dysplasia." }, "child_count": 2, "reference_id": "MONDO:0100593" }, { "id": 24802, "label": "primordial dwarfism and slender bone disorder", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026426" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death." }, "child_count": 26, "reference_id": "MONDO:0800063" }, { "id": 24804, "label": "polydactyly-syndactyly-triphalangism", "isLeaf": false, "isRoot": false, "parents": [ 18360, 20258, 20259 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026428" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two." }, "child_count": 84, "reference_id": "MONDO:0800066" }, { "id": 24806, "label": "lysosomal storage disease with skeletal involvement", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019203", "ICD9:756.9", "Orphanet:93448", "SCTID:254069004", "SCTID:279081001" ], "synonyms": [ "dysostosis multiplex" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 25, "reference_id": "MONDO:0800088" }, { "id": 24807, "label": "abnormal mineralization disorder", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026430" ], "synonyms": [ "disorder of bone mineralization", "osteomalacia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A skeletal dysplasia where osteoid becomes calcified." }, "child_count": 18, "reference_id": "MONDO:0800096" }, { "id": 24883, "label": "calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026480", "MEDGEN:1674505", "UMLS:C5193004" ], "synonyms": [ "CDLSMD" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800204" }, { "id": 24911, "label": "de la Chapelle dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026492", "MEDGEN:342529", "UMLS:C1850555", "icd11.foundation:248590292" ], "synonyms": [ "DLCD" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800307" }, { "id": 25266, "label": "mesomelic dysplasia-digital anomalies-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026641", "MEDGEN:1843408", "Orphanet:632603", "UMLS:C5816803" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0858998" }, { "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": 25346, "label": "rhizomelic dysplasia, Ain-Naz type", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026667", "MEDGEN:1794223", "OMIM:619598", "UMLS:C5562013" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859203" }, { "id": 25369, "label": "craniotubular dysplasia, Ikegawa type", "isLeaf": true, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112340", "GARD:0026671", "MEDGEN:1806238", "OMIM:619727", "UMLS:C5575335" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859226" }, { "id": 29241, "label": "TRIP11-related skeletal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any skeletal dysplasia in which the cause of the disease is a variation in the TRIP11 gene. Reduced protein function in TRIP11 causes a spectrum of skeletal symptoms from a more mild phenotype, called ondontochondrodysplasia, with features including short stature and joint laxity to a more severe phenotype, called achondrogenesis type 1A, which presents as a lethal prenatal or neonatal skeletal dysplasia. The clinical severity of achondrogenesis compared to ondontochondrodysplasia is related to the residual function of the gene which is not currently possible to anticipate based on genotype alone. The phenotype cannot fully be predicted by genotype alone, evidenced by variants being reported with both phenotypes." }, "child_count": 2, "reference_id": "MONDO:1040009" }, { "id": 29335, "label": "FAM111A-related skeletal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028174" ], "synonyms": [ "FAM111A-related skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any skeletal dysplasia in which the cause of the disease is a variation in FAM111A gene." }, "child_count": 2, "reference_id": "MONDO:1060172" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 7061, "label": "bone disorder" } ] }