Exostoses, Multiple Hereditary
Disease ID: disease_node_3085
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q78.6, MESH:D005097, MIM:133700, MIM:133701, MIM:600209, NCI:C5183, ORDO:321, SNOMEDCT_US_2023_03_01:254044004, UMLS_CUI:C0015306 |
|---|---|
| Subclassof | DOID_0050736, DOID_203 |
| Data Source | DOID, MESH |
| Synonyms | Multiple congenital exostosis, Multiple exostosis syndromes, Osteochondromatosis syndrome, hereditary multiple exostoses 1, hereditary multiple exostoses 2, hereditary multiple exostoses 3, multiple ostechondromas |
| Mesh Id | D005097 |
| Mesh Label | Exostoses, Multiple Hereditary |
| Mesh Subclassof | D005096, D009386, D018216 |
| Doid Label | hereditary multiple exostoses |
| Doid Description | An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_3085 |
| Doid Id | DOID_206 |
| Label | Exostoses, Multiple Hereditary |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Exostoses(ID:disease_node_3084) (Disease)