Leber congenital amaurosis 13 - Ontology Report

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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:	Leber congenital amaurosis 13	go back to main search page
Accession:	DOID:0110330	browse the term
Definition:	A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. (DO)
Synonyms:	exact_synonym:	LCA13
	narrow_synonym:	RETINITIS PIGMENTOSA 53; RP53
	primary_id:	MESH:C567197
	alt_id:	OMIM:612712; RDO:0015338
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (2)

Leber congenital amaurosis 13

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Rdh12

retinol dehydrogenase 12

ISO

ClinVar Annotator: match by OMIM:612712
ClinVar Annotator: match by term: Retinitis pigmentosa 53
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber congenital amaurosis 13

OMIM
ClinVar
CTD

PMID:15258582 PMID:15322982 PMID:16269441 PMID:17197551 PMID:17389517 PMID:17512964 PMID:17964524 PMID:18779497 PMID:19011012 PMID:19140180 PMID:20006610 PMID:20079931 PMID:20683928 PMID:20736127 PMID:21151602 PMID:22065924 PMID:23105016 PMID:23661369 PMID:23847139 PMID:23900199 PMID:24265693 PMID:24474277 PMID:24625443 PMID:25133751 PMID:25412400 PMID:25494902 PMID:25526675 PMID:25561519 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26124963 PMID:26306921 PMID:26355662 PMID:26497376 PMID:26667666 PMID:27032803 PMID:27208204 PMID:28041643 PMID:28157192 PMID:28418496 PMID:28471114 PMID:28492532 PMID:28512305 PMID:28559085 PMID:29178642 PMID:29186038 PMID:30134391 PMID:30372751 PMID:30718709 PMID:32014858

NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750

Zfyve26

zinc finger FYVE-type containing 26

ISO

ClinVar Annotator: match by term: Leber congenital amaurosis 13

ClinVar

PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 PMID:18779497 PMID:19011012 PMID:20079931 PMID:20683928 PMID:20736127 PMID:21151602 PMID:22065924 PMID:23847139 PMID:24265693 PMID:24474277 PMID:24625443 PMID:25412400 PMID:25494902 PMID:25561519 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26667666 PMID:27208204 PMID:28041643 PMID:28492532 PMID:28512305 PMID:28559085

NCBI chr 6:102,409,235...102,472,962
Ensembl chr 6:102,409,881...102,472,926

Term paths to the root

Path 1
Term	Annotations
disease	16091
physical disorder	2462
Leber congenital amaurosis	73
Leber congenital amaurosis 13	2
Path 2
Term	Annotations
disease	16091
Developmental Diseases	9586
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	8437
genetic disease	7958
monogenic disease	5742
autosomal genetic disease	4757
autosomal dominant disease	3034
Leber congenital amaurosis 13	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)

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