Term Name: McCune Albright syndrome
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 )

Relationships
is a type of: autosomal genetic disease syndrome