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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;   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 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 OMIM:303100
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Choroideremia, salla type
OMIM
ClinVar
PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:8477262 PMID:9067750 PMID:9175730 PMID:10447648 PMID:11139690 PMID:12203991 PMID:12827496 PMID:16087855 PMID:16936131 PMID:21905166 PMID:22957832 PMID:25741868 PMID:25912515 PMID:26133251 PMID:27247961 PMID:28098911 PMID:28492532 PMID:28559085 NCBI chr  X:84,666,900...84,821,775
Ensembl chr  X:84,666,900...84,821,775
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy ClinVar PMID:11139241 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28492532 NCBI chr 9:16,085,933...16,386,176 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      eye disease 2673
        Hereditary Eye Diseases 575
          Choroideremia 2
            Ayazi Syndrome 0
            Van Den Bosch Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            eye degenerative disease 467
              retinal degeneration 465
                Choroideremia 2
                  Ayazi Syndrome 0
                  Van Den Bosch Syndrome 0
paths to the root