Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Disease ID: disease_node_15674
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| Dbxref | MIM:215150 |
|---|---|
| Subclassof | DOID_2256, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS, NANCE-INSLEY SYNDROME, NANCE-SWEENEY CHONDRODYSPLASIA, OSMEDB |
| Disease Has Location | UBERON_0001437 |
| Doid Label | otospondylomegaepiphyseal dysplasia, autosomal recessive |
| Doid Description | An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. OMIM mapping confirmed by DO. [SN]. |
| Has Phenotype | HP_0000926 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15674 |
| Doid Id | DOID_0080026 |
| Label | Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)