Choroideremia - Ontology Report - Rat Genome Database

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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	go back to main search page
Accession:	DOID:9821	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:	MIM:303100
	xref:	GARD:6061; ICD10CM:H31.21; ICD9CM:363.55; NCI:C34469; ORDO:180

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Genes (2)

Choroideremia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Chm

CHM Rab escort protein

ISO
ISS

ClinVar Annotator: match by term: CHM-related condition | ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type
OMIM:303100
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

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

Term paths to the root

Path 1
Term	Annotations
disease	19099
sensory system disease	7331
eye disease	3696
Hereditary Eye Diseases	1119
Choroideremia	2
Ayazi Syndrome	0
Van Den Bosch Syndrome	0
Path 2
Term	Annotations
disease	19099
disease of anatomical entity	18440
nervous system disease	14334
Neurologic Manifestations	10420
sensory system disease	7331
eye disease	3696
retinal disease	1401
retinal degeneration	854
Choroideremia	2
Ayazi Syndrome	0
Van Den Bosch Syndrome	0

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RGD DISEASE ONTOLOGY - ANNOTATIONS