JSON

McCune-Albright syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018919

McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP). [ Orphanet:562 ]

Term info

database cross reference
  • MESH:D005359 (Orphanet:562/e)
  • Orphanet:562 (MONDO:equivalentTo)
  • ICD10CM:Q78.1 (Orphanet:562/ntbt)
  • SCTID:726029005 (MONDO:equivalentTo)
  • DOID:1858 (MONDO:equivalentTo)
  • OMIM:174800 (Orphanet:562/e)
  • NCIT:C48627 (MONDO:equivalentTo)
  • GARD:0006995 (MONDO:equivalentTo)
  • UMLS:C0242292 (Orphanet:562/e)
  • UMLS:C0016065 (Orphanet:93276/e)
Subsets

ordo_disease

abbreviation
PFD [ GARD:0006995 ]

abbreviation
POFD [ GARD:0006995 ]

abbreviation
MAS [ NCIT:C48627 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/4948

definition

McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).

exactMatch

https://omim.org/entry/174800, http://purl.obolibrary.org/obo/NCIT_C48627, http://purl.obolibrary.org/obo/Orphanet_562, http://linkedlifedata.com/resource/umls/id/C0016065, http://identifiers.org/snomedct/726029005, http://linkedlifedata.com/resource/umls/id/C0242292, http://purl.obolibrary.org/obo/DOID_1858

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019708, http://purl.obolibrary.org/obo/MONDO_0015945, http://purl.obolibrary.org/obo/MONDO_0000426

has exact synonym

Albright's disease, mccune-albright syndrome, somatic, mosaic, gonadotropin-independent female-limited sexual precocity, MAS, McCune Albright syndrome

has related synonym

polyostotic fibrous dysplasia, POFD, PFD

id

MONDO:0018919