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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type OMIM
ClinVar
PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:8477262 More... NCBI chr  X:78,203,200...78,361,996
Ensembl chr  X:78,203,204...78,361,943
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    sensory system disease 6435
      eye disease 2961
        Hereditary Eye Diseases 755
          Choroideremia 2
            Ayazi Syndrome 0
            Van Den Bosch Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        central nervous system disease 11364
          neurodegenerative disease 3928
            eye degenerative disease 536
              retinal degeneration 534
                Choroideremia 2
                  Ayazi Syndrome 0
                  Van Den Bosch Syndrome 0
paths to the root