McCune Albright syndrome (DOID:1858)
Alliance: disease page
Synonyms: fibrous dysplasia of bone; osteitis fibrosa disseminata; polyostotic fibrous dysplasia
Alt IDs: OMIM:174800, DOID:11345, ICD10CM:Q78.1, ICD9CM:756.54, MESH:D005359, NCI:C34610, UMLS_CUI:C0016065
Definition: A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and caf -au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.