Campomelic Dysplasia
Disease ID: disease_node_12026
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| Dbxref | GARD:10027, MESH:D055036, MIM:114290, NCI:C120205, NCI:C84609, ORDO:140, UMLS_CUI:C1861922, UMLS_CUI:C1861923 |
|---|---|
| Subclassof | DOID_2256, DOID_0050736 |
| Data Source | DOID, MESH |
| Synonyms | Acampomelic Campomelic Dysplasia |
| Disease Has Location | UBERON_0000981, UBERON_0000979 |
| Mesh Id | D055036 |
| Mesh Label | Campomelic Dysplasia |
| Mesh Subclassof | D009139 |
| Doid Label | campomelic dysplasia |
| Doid Description | An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_12026 |
| Doid Id | DOID_0050463 |
| Label | Campomelic Dysplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)