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ONTOLOGY REPORT - ANNOTATIONS


Term:McCune Albright syndrome
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Accession:DOID:1858 term browser browse the term
Definition:An autosomal genetic disease 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 Syndrome;   Albright's Syndrome with Precocious Puberty;   Albright's disease;   Albright's disease of bone;   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: ALBRIGHT SYNDROME POLYOSTOTIC FIBROUS DYSPLASIA;   PFD;   POFD
 primary_id: MESH:D005359
 alt_id: DOID:9002313;   OMIM:174800;   RDO:0002494;   RDO:9004928
 xref: GARD:6995;   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
RGD:7240710
RGD:11554173
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
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  disease 15625
    syndrome 5162
      McCune Albright syndrome 2
Path 2
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  disease 15625
    disease of anatomical entity 14954
      musculoskeletal system disease 4281
        connective tissue disease 2779
          bone disease 2232
            bone development disease 996
              osteochondrodysplasia 410
                Fibrous Dysplasia of Bone 5
                  McCune Albright syndrome 2
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