autosomal dominant vitreoretinochoroidopathy - Ontology Report

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner VCMap Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive Pathways Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

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:	autosomal dominant vitreoretinochoroidopathy	go back to main search page
Accession:	DOID:0111569	browse the term
Definition:	A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in BEST1 on chromosome 11q12.3. (DO)
Synonyms:	exact_synonym:	ADVIRC; VRCP; VRCP autosomal dominant; Vitreoretinochoroidopathy; Vitreoretinochoroidopathy dominant; Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos; vitreoretinochoroidopathy with microcornea, glaucoma, and cataract
	narrow_synonym:	MRCS2; microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2
	broad_synonym:	MRCS; microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
	primary_id:	MESH:C536352
	alt_id:	OMIM:193220
	xref:	GARD:5507; ORDO:3086
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:

Rat (2) Mouse (2) Human (66) Chinchilla (2) Bonobo (2) Dog (2) Squirrel (2) Pig (2) All
Genes (2)

autosomal dominant vitreoretinochoroidopathy

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Best1

bestrophin 1

ISO

ClinVar Annotator: match by OMIM:193220
ClinVar Annotator: match by synonym: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
ClinVar Annotator: match by term: Vitreoretinochoroidopathy

OMIM
ClinVar

PMID:10453731 PMID:10798642 PMID:10854112 PMID:11585313 PMID:11713080 PMID:12543751 PMID:13534955 PMID:14615048 PMID:15452077 PMID:16754206 PMID:17110374 PMID:17898294 PMID:18179881 PMID:18611979 PMID:21192766 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:22162627 PMID:22183385 PMID:22422030 PMID:23290749 PMID:24033266 PMID:25741868 PMID:26200502 PMID:26333019 PMID:27519691 PMID:28492532 PMID:28687848 PMID:30718709 PMID:33546218

NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929

Fth1

ferritin heavy chain 1

ISO

ClinVar Annotator: match by term: Vitreoretinochoroidopathy

ClinVar

PMID:10453731 PMID:11713080 PMID:14615048 PMID:17898294 PMID:25741868 PMID:28492532 PMID:28687848

NCBI chr 1:226,030,940...226,033,228
Ensembl chr 1:226,030,938...226,033,228

Term paths to the root

Path 1
Term	Annotations
disease	16918
sensory system disease	5332
eye disease	2643
fundus dystrophy	344
hereditary retinal dystrophy	4
autosomal dominant vitreoretinochoroidopathy	2
Path 2
Term	Annotations
disease	16918
disease of anatomical entity	16286
nervous system disease	11864
sensory system disease	5332
eye disease	2643
retinal disease	805
retinal degeneration	478
fundus dystrophy	344
hereditary retinal dystrophy	4
autosomal dominant vitreoretinochoroidopathy	2

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
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)

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

Create Name:

Description:

Send us a Message

RGD DISEASE ONTOLOGY - ANNOTATIONS