retinal cone dystrophy 3A - 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:	retinal cone dystrophy 3A	go back to main search page
Accession:	DOID:0081025	browse the term
Definition:	A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13. (DO)
Synonyms:	exact_synonym:	Cone Dystrophy with Night Blindness and Supernormal Rod Responses, PDE6H-Related; RCD3A
	related_synonym:	ACHM6; achromatopsia 6
	primary_id:	MESH:C566483
	alt_id:	DOID:9004469; OMIM:610024
	xref:	GARD:10648

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Genes (2)

retinal cone dystrophy 3A

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Pde6h

phosphodiesterase 6H

ISO

ClinVar Annotator: match by term: Retinal cone dystrophy 3A
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:15629837 PMID:22901948 PMID:25741868 PMID:27472364 PMID:28492532

NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969

Runx2

RUNX family transcription factor 2

ISO

ClinVar Annotator: match by term: Retinal cone dystrophy 3A

ClinVar

PMID:15629837

NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167

Term paths to the root

Path 1
Term	Annotations
disease	18976
sensory system disease	7022
eye disease	3492
fundus dystrophy	703
retinitis pigmentosa	601
retinal cone dystrophy 3A	2
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
eye degenerative disease	856
retinal degeneration	854
fundus dystrophy	703
retinitis pigmentosa	601
retinal cone dystrophy 3A	2

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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

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RGD DISEASE ONTOLOGY - ANNOTATIONS