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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
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McCune Albright syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:8554872
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743609

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    syndrome 6144
      McCune Albright syndrome 2
Path 2
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  disease 16021
    disease of anatomical entity 15274
      musculoskeletal system disease 5541
        connective tissue disease 4009
          bone disease 3473
            bone development disease 1263
              osteochondrodysplasia 430
                Fibrous Dysplasia of Bone 13
                  McCune Albright syndrome 2
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