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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:McCune Albright syndrome
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Accession:DOID:1858 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Albright syndrome;   Albright's disease;   Albright's disease of bone;   Albright's syndrome;   Albright's syndrome with precocious puberty;   Albright-Mccune-Sternberg syndrome;   Albright-Sternberg syndrome;   MAS;   fibrous dysplasia of bone;   fibrous dysplasia with pigmentary skin changes and precocious puberty;   osteitis fibrosa disseminata;   polyostotic fibrous dysplasia;   polyostotic fibrous dysplasias
 narrow_synonym: PFD;   POFD
 primary_id: MESH:D005359
 alt_id: OMIM:174800
 xref: GARD:6995;   ICD10CM:Q78.1;   ICD9CM:756.54;   NCI:C34610;   NCI:C48627
For additional species annotation, visit the Alliance of Genome Resources.



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McCune Albright syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: McCune-Albright syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7737262 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO RGD PMID:16720661 RGD:12743609 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      McCune Albright syndrome 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              osteochondrodysplasia 478
                Fibrous Dysplasia of Bone 14
                  McCune Albright syndrome 2
paths to the root