Fibrous Dysplasia, Polyostotic
Disease ID: disease_node_3262
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| Dbxref | GARD:6995, ICD10CM:Q78.1, ICD9CM:756.54, MESH:D005359, MIM:174800, NCI:C34610, SNOMEDCT_US_2023_03_01:205508003, UMLS_CUI:C0016065 |
|---|---|
| Subclassof | DOID_225, DOID_0050739 |
| Data Source | DOID, MESH |
| Synonyms | fibrous dysplasia of bone, osteitis fibrosa disseminata, polyostotic fibrous dysplasia |
| Mesh Id | D005359 |
| Mesh Label | Fibrous Dysplasia, Polyostotic |
| Mesh Subclassof | D005357 |
| Doid Label | McCune Albright syndrome |
| Doid Description | A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000934 |
| Disease Node Id | disease_node_3262 |
| Doid Id | DOID_1858 |
| Label | Fibrous Dysplasia, Polyostotic |
| Doid Alternate Ids | DOID_11345 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Genetic Disease(ID:disease_node_15586) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)