{ "id": 7171, "label": "osteochondrodysplasia", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005516", "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." }, "isLeaf": false, "isRoot": false, "child_count": 50, "parents": [ { "id": 7153, "label": "bone development disease", "isLeaf": false, "isRoot": false, "parents": [ 7061, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080006", "EFO:0005541", "MEDGEN:2309", "SCTID:371521007", "UMLS:C0005941" ], "synonyms": [ "bone development disease", "bone development disease or disorder", "disease of bone development", "disease or disorder of bone development", "disorder of bone development" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease involving the bone development." }, "child_count": 18, "reference_id": "MONDO:0005497" }, { "id": 18360, "label": "skeletal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7061 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:98053", "Orphanet:364526", "UMLS:C0410528" ], "synonyms": [ "Mendelian skeletal dysplasia", "primary bone dysplasia", "primary osteodysplasia", "primary skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any Mendelian diseases that affects growth and development of the skeleton." }, "child_count": 238, "reference_id": "MONDO:0018230" } ], "children": [ { "id": 2887, "label": "atelosteogenesis", "isLeaf": false, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050648", "MEDGEN:1806597", "OMIMPS:108720", "SCTID:43814000", "UMLS:C5574658" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 3, "reference_id": "MONDO:0000389" }, { "id": 2910, "label": "midface dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050767" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0000446" }, { "id": 7251, "label": "Kashin-Beck disease", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0006511", "ICD9:716.00", "ICD9:716.06", "ICD9:716.08", "MEDGEN:412531", "MESH:D057767", "SCTID:270505009", "UMLS:C2745963", "icd11.foundation:211396970" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." }, "child_count": 0, "reference_id": "MONDO:0005610" }, { "id": 8456, "label": "achondroplasia", "isLeaf": true, "isRoot": false, "parents": [ 7171, 19469 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4480", "GARD:0008173", "ICD10CM:Q77.4", "MEDGEN:1289", "MESH:D000130", "MedDRA:10000452", "NANDO:1200877", "NANDO:2201009", "NCIT:C34345", "NORD:711", "OMIM:100800", "Orphanet:15", "SCTID:86268005", "UMLS:C0001080", "icd11.foundation:24224082" ], "synonyms": [ "ACH", "achondroplasia", "achondroplastic dwarfism" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." }, "child_count": 0, "reference_id": "MONDO:0007037" }, { "id": 8613, "label": "Boomerang dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 7171, 29336 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050680", "GARD:0000933", "ICD9:756.9", "MEDGEN:96579", "MESH:C536573", "OMIM:112310", "Orphanet:1263", "SCTID:254054000", "UMLS:C0432201", "icd11.foundation:423736259" ], "synonyms": [ "Boomerang dysplasia", "Boomerang-like skeletal dysplasia", "dwarfism with short, bowed, rigid limbs and characteristic facies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing." }, "child_count": 0, "reference_id": "MONDO:0007208" }, { "id": 8656, "label": "campomelic dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 6875, 7171, 16088, 19475 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050463", "GARD:0010027", "ICD9:733.29", "MEDGEN:354620", "MESH:D055036", "NCIT:C84609", "NORD:884", "OMIM:114290", "Orphanet:140", "SCTID:74928006", "UMLS:C1861922", "icd11.foundation:913761638" ], "synonyms": [ "CMD", "Campomelic Syndrome", "campomelic dwarfism", "campomelic dysplasia", "acampomelic campomelic dysplasia", "CMPD1", "Cmd1", "Cmpd", "Cmpd1/Sra1", "acampomelic campomelic dysplasia with autosomal Sex reversal", "campomelic dysplasia with autosomal Sex reversal", "camptomelic dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." }, "child_count": 0, "reference_id": "MONDO:0007251" }, { "id": 8735, "label": "cleidocranial dysplasia 1", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13994", "GARD:0006118", "ICD9:755.59", "MEDGEN:3486", "MESH:D002973", "NCIT:C75020", "NORD:978", "OMIM:119600", "Orphanet:1452", "SCTID:65976001", "UMLS:C0008928" ], "synonyms": [ "Cleidocranial Dysplasia", "cleidocranial dysostosis", "cleidocranial dysplasia", "CCD", "CLCD", "cleidocranial dysplasia, forme fruste, dental anomalies only", "cleidocranial dysplasia, forme fruste, with brachydactyly", "dysplasia cleidocranial" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems." }, "child_count": 0, "reference_id": "MONDO:0007340" }, { "id": 8868, "label": "Leri-Weill dyschondrosteosis", "isLeaf": false, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:58", "DOID:0060847", "GARD:0003224", "ICD9:756.59", "MEDGEN:75562", "NCIT:C126560", "NORD:1070", "OMIM:127300", "Orphanet:240", "SCTID:17818006", "UMLS:C0265309" ], "synonyms": [ "LWD", "Leri Weill dyschondrosteosis", "Leri-Weill dyschondrosteosis", "Leri-Weill dyschondrosteosis, Pseudoautosomal dominant", "Leri-Weill dyschondrostosis", "Leri-Weill syndrome", "Léri-Weill dyschondrosteosis", "Léri-Weill syndrome", "DCo", "Madelung deformity", "dyschondrosteosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity." }, "child_count": 1, "reference_id": "MONDO:0007481" }, { "id": 9138, "label": "hypochondroplasia", "isLeaf": true, "isRoot": false, "parents": [ 7171, 19469 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080041", "GARD:0006724", "ICD9:756.9", "MEDGEN:98376", "MESH:C562937", "MedDRA:10020967", "NANDO:2201010", "NCIT:C118697", "NORD:1271", "OMIM:146000", "Orphanet:429", "SCTID:205468002", "UMLS:C0410529", "icd11.foundation:1930265486" ], "synonyms": [ "hypochondroplasia", "HCH" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." }, "child_count": 0, "reference_id": "MONDO:0007793" }, { "id": 9308, "label": "metaphyseal chondrodysplasia, Jansen type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080020", "GARD:0000079", "MEDGEN:120529", "MESH:C537564", "NCIT:C131868", "NORD:1307", "OMIM:156400", "Orphanet:33067", "SCTID:24629003", "UMLS:C0265295", "icd11.foundation:1652660420" ], "synonyms": [ "Jansen Type Metaphyseal Chondrodysplasia", "Jansen type metaphyseal chondrodysplasia", "metaphyseal chondrodysplasia murk Jansen type", "metaphyseal chondrodysplasia, Jansen type", "metaphyseal chondrodysplasia, murk Jansen type", "murk Jansen type metaphyseal chondrodysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia." }, "child_count": 0, "reference_id": "MONDO:0007982" }, { "id": 9309, "label": "Schmid metaphyseal chondrodysplasia", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080021", "GARD:0007029", "MEDGEN:78550", "MESH:C537352", "NORD:1444", "OMIM:156500", "Orphanet:174", "SCTID:29248006", "UMLS:C0265289" ], "synonyms": [ "MCDS", "Metaphyseal Chondrodysplasia, Schmid Type", "metaphyseal chondrodysplasia Schmid type", "metaphyseal chondrodysplasia, Schmid type", "spondylometaphyseal dysplasia, Japanese type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare skeletal disorder caused by a variation in COL10A1 gene and is characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait." }, "child_count": 0, "reference_id": "MONDO:0007983" }, { "id": 9313, "label": "Kniest dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 7171, 17208, 20997 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080045", "GARD:0006841", "ICD9:756.9", "MEDGEN:75559", "MESH:C537207", "NANDO:2201350", "NCIT:C125594", "NORD:1339", "OMIM:156550", "Orphanet:485", "SCTID:53974002", "UMLS:C0265279", "icd11.foundation:2088691719" ], "synonyms": [ "Kniest dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare type 2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones." }, "child_count": 0, "reference_id": "MONDO:0007987" }, { "id": 9628, "label": "pseudoachondroplasia", "isLeaf": true, "isRoot": false, "parents": [ 7171, 24316 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080047", "GARD:0004540", "ICD9:756.9", "MEDGEN:98378", "MESH:C535819", "NANDO:2201018", "NCIT:C118635", "NORD:1625", "OMIM:177170", "Orphanet:750", "SCTID:22567005", "UMLS:C0410538", "icd11.foundation:1192649257" ], "synonyms": [ "Pseudoachondroplastic dysplasia", "Pseudoachondroplastic spondyloepiphyseal dysplasia", "pseudoachondroplasia", "pseudoachondroplastic dysplasia", "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC", "PSACH", "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome", "spondyloepiphyseal dysplasia, Pseudoachondroplastic" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis." }, "child_count": 0, "reference_id": "MONDO:0008322" }, { "id": 9903, "label": "ulna metaphyseal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004740", "MEDGEN:348149", "MESH:C536935", "OMIM:191420", "Orphanet:1837", "SCTID:715242008", "UMLS:C1860615", "icd11.foundation:1343160916" ], "synonyms": [ "Rosenberg-Lohr syndrome", "ulna metaphyseal dysplasia syndrome", "Rosenberg Lohr syndrome", "hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna", "metaphyseal chondrodysplasia, Rosenberg type", "metaphyseal chondroplasia Rosenberg type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga." }, "child_count": 0, "reference_id": "MONDO:0008619" }, { "id": 9973, "label": "acheiropody", "isLeaf": true, "isRoot": false, "parents": [ 7171, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050603", "GARD:0000376", "MEDGEN:120547", "MESH:C536014", "OMIM:200500", "Orphanet:931", "SCTID:177504007", "UMLS:C0265559" ], "synonyms": [ "acheiropodia", "acheiropody", "ACHP", "acheiropody, Brazilian type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." }, "child_count": 0, "reference_id": "MONDO:0008700" }, { "id": 10136, "label": "microcephalic osteodysplastic primordial dwarfism type I", "isLeaf": true, "isRoot": false, "parents": [ 2712, 7171, 17405, 24226, 24283 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060608", "GARD:0015144", "MEDGEN:347149", "OMIM:210710", "SCTID:254102008", "UMLS:C1859452" ], "synonyms": [ "MOPD 1", "MOPD1", "Taybi-Linder syndrome", "brachymelic primordial dwarfism", "cephaloskeletal dysplasia", "low-birth-weight dwarfism with skeletal dysplasia", "microcephalic osteodysplastic primordial dwarfism, type 1", "microcephalic osteodysplastic primordial dwarfism, type I", "osteodysplastic primordial dwarfism, type 1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits." }, "child_count": 0, "reference_id": "MONDO:0008871" }, { "id": 10137, "label": "microcephalic osteodysplastic primordial dwarfism type II", "isLeaf": true, "isRoot": false, "parents": [ 2712, 7171, 24226, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060609", "GARD:0009844", "MEDGEN:96587", "MESH:C565898", "OMIM:210720", "Orphanet:2637", "SCTID:254103003", "UMLS:C0432246" ], "synonyms": [ "MOPD type II", "Majewski osteodysplastic primordial dwarfism type II", "MOPD II", "MOPD2", "Mopd 2", "microcephalic osteodysplastic primordial dwarfism type 2", "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "microcephalic osteodysplastic primordial dwarfism, type 2", "microcephalic osteodysplastic primordial dwarfism, type II", "osteodysplastic primordial dwarfism type 2", "osteodysplastic primordial dwarfism, type 2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." }, "child_count": 0, "reference_id": "MONDO:0008872" }, { "id": 10143, "label": "bone dysplasia, lethal Holmgren type", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000922", "MEDGEN:347872", "MESH:C565896", "OMIM:211120", "Orphanet:1842", "SCTID:732249002", "UMLS:C1859407" ], "synonyms": [ "autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type", "bone dysplasia lethal Holmgren type", "bone dysplasia, lethal, Holmgren type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988." }, "child_count": 0, "reference_id": "MONDO:0008878" }, { "id": 10251, "label": "cleidocranial dysplasia, recessive form", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010623", "MEDGEN:395170", "MESH:C565843", "OMIM:216330", "UMLS:C1859080" ], "synonyms": [ "cleidocranial dysplasia, recessive form", "autosomal recessive form of cleidocranial dysostosis", "cleidocranial dysplasia recessive form" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008994" }, { "id": 10354, "label": "diastrophic dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 2777, 7171, 18954, 24315 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14687", "GARD:0006275", "ICD10CM:Q77.5", "ICD9:756.89", "MEDGEN:113103", "MESH:C536170", "NCIT:C156311", "NORD:1051", "OMIM:222600", "Orphanet:628", "SCTID:58561002", "UMLS:C0220726", "icd11.foundation:1681550532" ], "synonyms": [ "diastrophic dysplasia", "DD", "DTD", "diastrophic dwarfism", "diastrophic dysplasia, Broad bone-Platyspondylic variant" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." }, "child_count": 0, "reference_id": "MONDO:0009107" }, { "id": 10638, "label": "hypertrichotic osteochondrodysplasia Cantu type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7171, 16088 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060569", "GARD:0008585", "MEDGEN:208647", "MESH:C535572", "OMIM:239850", "Orphanet:1517", "SCTID:239087008", "UMLS:C0795905" ], "synonyms": [ "Cantu syndrome", "hypertrichotic osteochondrodysplasia (Cantu syndrome)", "Craniofaciocardioskeletal syndrome", "hypertrichotic osteochondrodysplasia", "hypertrichotic osteochondrodysplasia, Cantu type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009406" }, { "id": 10723, "label": "lethal Kniest-like dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003124", "MEDGEN:383721", "MESH:C537208", "OMIM:245190", "Orphanet:2347", "UMLS:C1855605" ], "synonyms": [ "Kniest like dysplasia lethal", "Kniest-like dysplasia, lethal", "arthrosis, flat face, hypotonia, short neck and macrocephaly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities." }, "child_count": 0, "reference_id": "MONDO:0009498" }, { "id": 10814, "label": "metaphyseal chondrodysplasia, Kaitila type", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017018", "MEDGEN:344446", "MESH:C565400", "OMIM:250230", "Orphanet:166038", "UMLS:C1855217" ], "synonyms": [ "metaphyseal chondrodysplasia, Kaitila type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982." }, "child_count": 0, "reference_id": "MONDO:0009594" }, { "id": 10817, "label": "metaphyseal chondrodysplasia, Spahr type", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003563", "MEDGEN:140928", "MESH:C537353", "OMIM:250400", "Orphanet:2501", "SCTID:254084008", "UMLS:C0432225", "icd11.foundation:1856002752" ], "synonyms": [ "metaphyseal chondrodysplasia, Spahr type", "MDST", "Spahr type metaphyseal chondrodysplasia", "metaphyseal chondrodysplasia Spahr type", "metaphyseal dysplasia, Spahr type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009597" }, { "id": 10818, "label": "metaphyseal chondrodysplasia-retinitis pigmentosa syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7171 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017017", "MEDGEN:381579", "MESH:C565398", "OMIM:250410", "Orphanet:166035", "UMLS:C1855188" ], "synonyms": [ "RPSKA", "brachydactyly-short stature-retinitis pigmentosa syndrome", "metaphyseal chondrodysplasia with retinitis pigmentosa", "retinitis pigmentosa with or without skeletal anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0009598" }, { "id": 11142, "label": "pycnodysostosis", "isLeaf": true, "isRoot": false, "parents": [ 4625, 7171, 17540 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080038", "GARD:0004611", "MEDGEN:116061", "MESH:D058631", "NANDO:2201023", "NCIT:C131187", "NORD:1637", "OMIM:265800", "Orphanet:763", "SCTID:89647000", "UMLS:C0238402", "icd11.foundation:1329974152" ], "synonyms": [ "Pyknodysostosis", "pycnodysostosis", "PKND", "Pycd" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery." }, "child_count": 0, "reference_id": "MONDO:0009940" }, { "id": 11143, "label": "pyknoachondrogenesis", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004610", "MEDGEN:337844", "MESH:C536251", "OMIM:265880", "Orphanet:3003", "SCTID:719258003", "UMLS:C1849523", "icd11.foundation:588435239" ], "synonyms": [ "camera syndrome", "pyknoachondrogenesis", "association of skeletal defects resembling achondrogenesis with generalised bone sclerosis", "association of skeletal defects resembling achondrogenesis with generalized bone sclerosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis." }, "child_count": 0, "reference_id": "MONDO:0009942" }, { "id": 11144, "label": "Pyle disease", "isLeaf": false, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080019", "GARD:0004612", "ICD10CM:Q78.5", "ICD9:758.5", "MEDGEN:82704", "MESH:C536252", "NANDO:2201367", "OMIM:265900", "Orphanet:3005", "SCTID:27837003", "UMLS:C0265294", "icd11.foundation:651364947" ], "synonyms": [ "metaphyseal dysplasia", "Bakwin-Krida syndrome", "Pyle disease", "Pyle's disease", "Pyle's syndrome", "Pyle-Cohn syndrome", "chondrodysplasia calcificans metaphysealis", "metaphyseal dysplasia, Pyle type", "Pyl", "metaphyseal dysplasia Pyle type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning." }, "child_count": 2, "reference_id": "MONDO:0009943" }, { "id": 11207, "label": "schneckenbecken dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 7171, 21354, 24805 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050775", "GARD:0000169", "ICD9:756.9", "MEDGEN:98475", "MESH:C536637", "OMIM:269250", "Orphanet:3144", "SCTID:254049009", "UMLS:C0432194", "icd11.foundation:584032448" ], "synonyms": [ "SLC35D1-CDG", "chondrodysplasia with snail-like pelvis", "schneckenbecken dysplasia", "SHNKND", "chondrodysplasia lethal neonatal with snail like pelvis", "chondrodysplasia, lethal neonatal, with snail-like pelvis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia." }, "child_count": 0, "reference_id": "MONDO:0010013" }, { "id": 12015, "label": "mesomelia-synostoses syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7171, 17326 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004302", "MEDGEN:324959", "MESH:C537348", "OMIM:600383", "Orphanet:2496", "SCTID:724147004", "UMLS:C1838162" ], "synonyms": [ "8q13 microdeletion syndrome", "Del(8)q(13)", "Verloes-David syndrome", "mesomelia-synostoses syndrome", "mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type", "mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type", "monosomy 8q13", "chromosome 8Q13 deletion syndrome", "dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis", "mesomelia synostoses", "mesomelic dysplasia, syndromic" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." }, "child_count": 0, "reference_id": "MONDO:0010881" }, { "id": 12190, "label": "lethal chondrodysplasia, Seller type", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003226", "MEDGEN:318622", "MESH:C563330", "OMIM:601376", "Orphanet:1421", "UMLS:C1832410" ], "synonyms": [ "chondrodysplasia, lethal, with long bone angulation and mixed bone density", "lethal chondrodysplasia seller type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011064" }, { "id": 12982, "label": "acrocapitofemoral dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 7171, 19473 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050604", "GARD:0010605", "MEDGEN:334681", "MESH:C564334", "OMIM:607778", "Orphanet:63446", "SCTID:720416007", "UMLS:C1843096", "icd11.foundation:687396416" ], "synonyms": [ "acrocapitofemoral dysplasia", "ACFD" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." }, "child_count": 0, "reference_id": "MONDO:0011907" }, { "id": 16146, "label": "brachyolmia", "isLeaf": false, "isRoot": false, "parents": [ 7171, 19472 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050690", "GARD:0010903", "ICD9:756.19", "MEDGEN:96584", "MESH:C537098", "Orphanet:1293", "SCTID:254088006", "UMLS:C0432228", "icd11.foundation:1255949169" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." }, "child_count": 6, "reference_id": "MONDO:0015262" }, { "id": 16272, "label": "Desbuquois dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7171, 19507 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060462", "GARD:0001818", "ICD9:756.9", "MEDGEN:98479", "NCIT:C124056", "OMIMPS:251450", "Orphanet:1425", "SCTID:254099008", "UMLS:C0432242" ], "synonyms": [ "DBQD", "Desbuquois dysplasia", "desbuquois syndrome", "micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies." }, "child_count": 4, "reference_id": "MONDO:0015426" }, { "id": 16701, "label": "fibrochondrogenesis", "isLeaf": false, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060465", "GARD:0002321", "MEDGEN:82700", "MESH:C562524", "NANDO:2201016", "OMIMPS:228520", "Orphanet:2021", "SCTID:17144009", "UMLS:C0265282", "icd11.foundation:1412541453" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported." }, "child_count": 2, "reference_id": "MONDO:0016068" }, { "id": 17117, "label": "multiple epiphyseal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12721", "GARD:0010756", "HP:0002654", "ICD9:756.56", "MEDGEN:6461", "MedDRA:10028197", "NORD:1468", "OMIMPS:132400", "Orphanet:251", "SCTID:59708000", "UMLS:C0026760", "icd11.foundation:2009123831" ], "synonyms": [ "Dominant Multiple Epiphyseal Dysplasia", "EDM", "MED", "Polyepiphyseal dysplasia", "multiple epiphyseal dysplasia", "multiple epiphyseal dysplasia (disease)", "polyepiphyseal dysplasia", "epiphyseal dysplasia, multiple" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6." }, "child_count": 10, "reference_id": "MONDO:0016648" }, { "id": 17206, "label": "spondyloepiphyseal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112280", "GARD:0007687", "ICD10CM:Q77.7", "ICD9:756.9", "MEDGEN:20916", "MedDRA:10062920", "Orphanet:252", "UMLS:C0038015" ], "synonyms": [ "SED", "spondyloepiphyseal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis." }, "child_count": 44, "reference_id": "MONDO:0016761" }, { "id": 17425, "label": "thanatophoric dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7171, 19469 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13481", "GARD:0000085", "ICD9:259.4", "MEDGEN:21124", "MESH:D013796", "MedDRA:10049808", "NANDO:1200874", "NCIT:C85187", "Orphanet:2655", "SCTID:29352008", "UMLS:C0039743", "icd11.foundation:1668919215" ], "synonyms": [ "FGFR3-related thanatophoric dysplasia", "TD", "thanatophoric dwarfism", "dwarfism thanatophoric" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A primary bone dysplasia with micromelia characterized by macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape." }, "child_count": 8, "reference_id": "MONDO:0017042" }, { "id": 17536, "label": "Blount disease", "isLeaf": false, "isRoot": false, "parents": [ 7171, 19475 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14798", "GARD:0000916", "ICD9:736.89", "MEDGEN:104499", "MESH:C536237", "MedDRA:10072255", "NCIT:C118460", "Orphanet:2768", "SCTID:79353000", "UMLS:C0175756", "icd11.foundation:138830223" ], "synonyms": [ "Blount disease", "Blount's disease", "Osteochondrosis deformans tibiae", "infantile tibia vara", "tibia vara Blount", "Blount-Barber syndrome", "Erlacher-Blount syndrome", "Osteochondrosis deformans tibiae, familial infantile type", "tibia vara" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs." }, "child_count": 4, "reference_id": "MONDO:0017194" }, { "id": 18933, "label": "osteogenesis imperfecta", "isLeaf": false, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12347", "GARD:0001017", "ICD10CM:Q78.0", "ICD9:756.51", "MEDGEN:45246", "MESH:D010013", "MedDRA:10031243", "NANDO:1200873", "NANDO:2201011", "NCIT:C26837", "NORD:1535", "OMIMPS:166200", "Orphanet:666", "SCTID:78314001", "UMLS:C0029434", "icd11.foundation:1219932551" ], "synonyms": [ "Lobstein disease", "OI", "Osteopsathyrosis", "Porak and Durante disease", "brittle bone disease", "glass bone disease", "Vrolik disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." }, "child_count": 10, "reference_id": "MONDO:0019019" }, { "id": 19438, "label": "achondrogenesis", "isLeaf": false, "isRoot": false, "parents": [ 7171, 19472 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080043", "GARD:0002882", "ICD10CM:Q77.0", "MEDGEN:84", "MESH:C579878", "MedDRA:10066122", "NCIT:C84527", "NORD:710", "OMIMPS:200600", "Orphanet:932", "SCTID:2391001", "UMLS:C0001079", "icd11.foundation:103965243" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2." }, "child_count": 10, "reference_id": "MONDO:0019648" }, { "id": 19474, "label": "acromesomelic dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080049", "GARD:0000006", "MEDGEN:1710812", "MESH:C535658", "NORD:724", "OMIMPS:602875", "Orphanet:93437", "UMLS:C5235036", "icd11.foundation:2002361676" ], "synonyms": [ "acromesomelic dwarfism" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type" }, "child_count": 8, "reference_id": "MONDO:0019696" }, { "id": 19477, "label": "neonatal osteosclerotic dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019199", "MEDGEN:721998", "Orphanet:93443", "SCTID:389236000", "UMLS:C1300205" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 5, "reference_id": "MONDO:0019702" }, { "id": 20762, "label": "Akaba Hayasaka syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:443940", "MESH:C535609", "UMLS:C2930948" ], "synonyms": [ "frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia." }, "child_count": 0, "reference_id": "MONDO:0021834" }, { "id": 21138, "label": "Fairbank disease", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:343598", "MESH:C536393", "UMLS:C1851537" ], "synonyms": [ "Fairbank multiple epiphyseal dysplasia", "dysplasia epiphysealis multiplex", "epiphyseal dysplasia Fairbank type", "epiphyseal dysplasia, Fairbank type", "epiphyseal dysplasia, ribbing type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0023106" }, { "id": 21245, "label": "mesomelic dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:593147", "NCIT:C121156", "SCTID:205473008", "UMLS:C0410536" ], "synonyms": [ "mesomelic dysplasia", "mesomelic dysplasias", "Mesomelic Dysplasia", "Mesomelic dwarf", "Mesomelic dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)." }, "child_count": 6, "reference_id": "MONDO:0023599" }, { "id": 24235, "label": "spondyloepimetaphyseal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080027", "GARD:0026258", "MEDGEN:609408", "SCTID:254062008", "UMLS:C0432211" ], "synonyms": [ "SEMD", "spondylo-epi-(meta)-physeal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis." }, "child_count": 23, "reference_id": "MONDO:0100510" }, { "id": 25441, "label": "cleidocranial dysplasia 2", "isLeaf": true, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1824016", "OMIM:620099", "UMLS:C5774243" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859307" }, { "id": 26086, "label": "arterial tortuosity-bone fragility syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7065, 7171, 21247, 23977 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028086", "MEDGEN:1855920", "OMIM:620908", "UMLS:C5935641" ], "synonyms": [ "EMILIN1-related arterial tortuosity syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A syndromic disease with a spectrum of manifestations in the cardiovascular system and other organ systems caused by disease-causing variants in the EMILIN1 gene, inherited in an autosomal recessive manner. Affected individuals have impaired elastogenesis with defective collagen fibrillogenesis which can lead to arterial tortuosity, bone fragility and other manifestations including dysmorphic facial features, cutis laxa, joint hypermobility, congenital heart malformations, arterial stenosis, and aortic root dilatation. Cases may present prenatally or in early childhood." }, "child_count": 0, "reference_id": "MONDO:0971179" }, { "id": 29253, "label": "linkeropathy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7171, 21247 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region." }, "child_count": 9, "reference_id": "MONDO:1040022" } ], "roots": [ { "id": 7153, "label": "bone development disease" }, { "id": 18360, "label": "skeletal dysplasia" } ] }