Mondo Description McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP).
Uniprot Description Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha.
Disease Ontology Description An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It has material basis in mutations in the GNAS1 gene.
Mondo Term and Equivalent IDs
MONDO:0018919: McCune-Albright syndrome