ONTOLOGY REPORT - ANNOTATIONS


Term:McCune Albright syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      McCune Albright syndrome 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                Fibrous Dysplasia of Bone 5
                  McCune Albright syndrome 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.