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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;   CHM-RELATED CONDITION;   TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE;   TCD;   choroideremias;   progressive choroidal atrophy;   progressive tapetochoroidal dystrophies
 narrow_synonym: Choroideremia, Salla type
 related_synonym: CHOROIDAL SCLEROSIS
 primary_id: MESH:D015794
 alt_id: OMIM:303100
 xref: GARD:6061;   ICD10CM:H31.21;   ICD9CM:363.55;   NCI:C34469;   ORDO:180


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:303100
ClinVar Annotator: match by term: CHM-related condition | ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type		 OMIM
CTD
MouseDO
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 18969
    sensory system disease 6962
      eye disease 3491
        Hereditary Eye Diseases 1101
          Choroideremia 2
            Ayazi Syndrome 0
            Van Den Bosch Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              retinal disease 1221
                retinal degeneration 851
                  Choroideremia 2
                    Ayazi Syndrome 0
                    Van Den Bosch Syndrome 0
paths to the root