Search Ontology:
Human Disease

McCune Albright syndrome

Term ID
DOID:1858
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. (3)
References
  • GARD:6995
  • ICD10CM:Q78.1
  • ICD9CM:756.54
  • MESH:D005359
  • NCI:C34610
  • OMIM:174800
  • SNOMEDCT_US_2023_03_01:205508003
  • UMLS_CUI:C0016065
Ontology
Human Disease   ( DOID:1858 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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