McCune Albright syndrome

Summary

DOID:1858 - McCune Albright syndrome

Disease Ontology 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.

Synonyms: fibrous Dysplasia of bone, fibrous dysplasia of bone, fibrous dysplasia of bone (disorder), osteitis fibrosa disseminata, polyostotic fibrous dysplasia,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gnas

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018919 - McCune-Albright syndrome

MONDO:0018919 - McCune-Albright syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), autosomal genetic disease (is_a), syndrome (is_a)