|  Help  |  About  |  Contact Us

DO Term : McCune Albright syndrome [DOID:1858] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • osteitis fibrosa disseminata,
  • polyostotic fibrous dysplasia,
  • fibrous dysplasia of bone,
  • NCI:C34610,
  • MESH:D005359,
  • ICD9CM:756.54,
  • OMIM:174800,
  • ICD10CM:Q78.1,
  • GARD:6995,
  • UMLS_CUI:C0016065,
  • DOID:11345,
  • 174800,
  • SNOMEDCT_US_2023_03_01:205508003
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents