Term Name: | McCune Albright syndrome |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:1858] ( DOID:1858 ) |