FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term McCune Albright syndrome ID (Ontology) DOID:1858 (Human Disease)
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.
Also Known As "fibrous dysplasia of bone" ; "osteitis fibrosa disseminata" ; "polyostotic fibrous dysplasia"
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 Genes
 McCune Albright syndrome       2
 for disease ribbon | McCune Albright syndrome       2
 model of | McCune Albright syndrome       2
Spanning Tree (Parents/Children)
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monogenic disease
 |__autosomal genetic disease__
disease                        |
 |__syndrome___________________|
                               McCune Albright syndrome  2 rec.
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Is a autosomal genetic disease
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Synonyms
  • "fibrous dysplasia of bone" EXACT
    "osteitis fibrosa disseminata" EXACT
    "polyostotic fibrous dysplasia" EXACT
Secondary IDs
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GARD:6995
ICD10CM:Q78.1
ICD9CM:756.54
MESH:D005359
MIM:174800
NCI:C34610
SNOMEDCT_US_2023_03_01:205508003
UMLS_CUI:C0016065