| Metadata | |
|---|---|
| ID | DOID:1858 |
| Name | McCune Albright syndrome |
| Definition | 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. http://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome, http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome, https://www.ncbi.nlm.nih.gov/books/NBK537092/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:205508003 |
| Alternateids |
DOID:11345 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
fibrous dysplasia of bone [EXACT] osteitis fibrosa disseminata [EXACT] polyostotic fibrous dysplasia [EXACT] |
| Parent Relationships |
is_a syndrome |