age related macular degeneration 13 - Ontology Report

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:	age related macular degeneration 13	go back to main search page
Accession:	DOID:0110025	browse the term
Definition:	An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25. (DO)
Synonyms:	exact_synonym:	ARMD13
	related_synonym:	age-related macular degeneration 13, susceptibility to
	primary_id:	OMIM:615439
	xref:	NCI:C187704

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Genes (1)

age related macular degeneration 13

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cfi

complement factor I

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 13 | ClinVar Annotator: match by term: Macular degeneration, age-related, 13, susceptibility to

CTD
ClinVar
OMIM

PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 More...

NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561

Term paths to the root

Path 1
Term	Annotations
disease	21128
Diseases of the Aged	1467
macular degeneration	156
degeneration of macula and posterior pole	73
age related macular degeneration	43
age related macular degeneration 13	1
Path 2
Term	Annotations
disease	21128
Pathological Conditions, Signs and Symptoms	13331
Signs and Symptoms	10807
Neurologic Manifestations	10039
sensory system disease	6940
eye disease	3477
retinal disease	1215
retinal degeneration	846
macular degeneration	156
degeneration of macula and posterior pole	73
age related macular degeneration	43
age related macular degeneration 13	1

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RGD DISEASE ONTOLOGY - ANNOTATIONS