ONTOLOGY REPORT - ANNOTATIONS


Term:Choroideremia
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Accession:DOID:9821 term browser browse the term
Definition:An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness.
Synonyms:exact_synonym: CHM;   choroideremias;   progressive choroidal atrophy;   progressive tapetochoroidal dystrophies
 narrow_synonym: Choroideremia, Salla type;   TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE;   TCD CHOROIDAL SCLEROSIS
 primary_id: MESH:D015794
 alt_id: OMIM:303100;   RDO:0000080
 xref: GARD:6061
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Choroideremia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chm CHM Rab escort protein JBrowse link X 84,666,900 84,821,775 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          Hereditary Eye Diseases 496
            Choroideremia 1
              Ayazi Syndrome 0
              Van Den Bosch Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              retinal disease 719
                retinal degeneration 410
                  Choroideremia 1
                    Ayazi Syndrome 0
                    Van Den Bosch Syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.