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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;   ICD10CM:H31.21;   ICD9CM:363.55;   NCI:C34469;   ORDO:180
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    sensory system disease 4976
      eye disease 2390
        Hereditary Eye Diseases 550
          Choroideremia 1
            Ayazi Syndrome 0
            Van Den Bosch Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          neurodegenerative disease 3144
            eye degenerative disease 449
              retinal degeneration 447
                Choroideremia 1
                  Ayazi Syndrome 0
                  Van Den Bosch Syndrome 0
paths to the root

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