Terminology Service for NFDI4Health
McCune Albright syndrome
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http://purl.obolibrary.org/obo/DOID_1858
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. [ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007646 ]
Term info
Label
McCune Albright syndrome
Synonyms
- fibrous dysplasia of bone
- osteitis fibrosa disseminata
- polyostotic fibrous dysplasia
Subsets
NCIthesaurus
comment
OMIM mapping confirmed by DO. [SN].
has alternative id
DOID:11345
has obo namespace
disease_ontology
id
DOID:1858