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ONTOLOGY REPORT - ANNOTATIONS


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 24 43,643,409 43,658,641 RGD:7240710
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 16 1,021,855 1,027,604 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12604
    syndrome 5554
      McCune Albright syndrome 2
Path 2
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  disease 12604
    disease of anatomical entity 12146
      musculoskeletal system disease 4970
        connective tissue disease 3500
          bone disease 3004
            bone development disease 1232
              osteochondrodysplasia 407
                Fibrous Dysplasia of Bone 13
                  McCune Albright syndrome 2
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