Search Ontology:
Human Disease
McCune Albright syndrome
- Term ID
- DOID:1858
- Synonyms
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- fibrous dysplasia of bone
- osteitis fibrosa disseminata
- polyostotic fibrous dysplasia
- 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. (3)
- References
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- GARD:6995
- ICD10CM:Q78.1
- ICD9CM:756.54
- MESH:D005359
- MIM:174800
- NCI:C34610
- SNOMEDCT_US_2023_03_01:205508003
- UMLS_CUI:C0016065
- Ontology
- Human Disease ( DOID:1858 )
- is a type of
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