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

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cfi

complement factor I

susceptibility

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	0
Diseases of the Aged	1474
macular degeneration	161
degeneration of macula and posterior pole	78
age related macular degeneration	48
age related macular degeneration 13	1
Path 2
Term	Annotations
disease	18976
Pathological Conditions, Signs and Symptoms	13376
Signs and Symptoms	10866
Neurologic Manifestations	10102
sensory system disease	7022
eye disease	3492
retinal disease	1224
retinal degeneration	854
macular degeneration	161
degeneration of macula and posterior pole	78
age related macular degeneration	48
age related macular degeneration 13	1

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS