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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:
SNOMEDCT_US_2023_03_01:205508003,
MESH:D005359,
osteitis fibrosa disseminata,
174800,
UMLS_CUI:C0016065,
DOID:11345,
polyostotic fibrous dysplasia,
OMIM:174800,
GARD:6995,
ICD9CM:756.54,
NCI:C34610,
fibrous dysplasia of bone,
ICD10CM:Q78.1

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

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