Leber congenital amaurosis 7 - 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:	Leber congenital amaurosis 7	go back to main search page
Accession:	DOID:0110333	browse the term
Definition:	A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. (DO)
Synonyms:	exact_synonym:	LCA7
	primary_id:	OMIM:613829
	alt_id:	RDO:9000512
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (2) Mouse (2) Human (192) Chinchilla (1) Bonobo (3) Dog (2) Squirrel (0) Pig (2) All
Genes (2)

Leber congenital amaurosis 7

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Crx

cone-rod homeobox

ISO

DNA:deletions:cds (human)
ClinVar Annotator: match by term: Leber congenital amaurosis 7
ClinVar Annotator: match by OMIM:613829

ClinVar
OMIM

PMID:9427255, PMID:9537410, PMID:9792858, PMID:9931337, PMID:10766140, PMID:11139241, PMID:11748859, PMID:11971869, PMID:12208271, PMID:12359607, PMID:12843339, PMID:15994872, PMID:16123401, PMID:17964524, PMID:18682808, PMID:22960069, PMID:23049240, PMID:23806086, PMID:24088041, PMID:24265693, PMID:24516401, PMID:25259927, PMID:25270190, PMID:25326637, PMID:25741868, PMID:26161267, PMID:26682157, PMID:27624628, PMID:28492532, PMID:28945142, PMID:28966547, PMID:29068479, PMID:30543658, PMID:30557390, PMID:30718709, PMID:31215831, PMID:9537410

RGD:734827

NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960

Sult2a1

sulfotransferase family 2A member 1

ISO

ClinVar Annotator: match by term: Leber congenital amaurosis 7

ClinVar

PMID:28492532, PMID:30557390

NCBI chr 1:76,558,721...76,614,315
Ensembl chr 1:76,252,329...76,780,230

Term paths to the root

Path 1
Term	Annotations
disease	16108
Developmental Diseases	9509
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	8365
genetic disease	7848
monogenic disease	5627
Leber congenital amaurosis 7	2
Path 2
Term	Annotations
disease	16108
disease of anatomical entity	15356
nervous system disease	10865
sensory system disease	5162
eye disease	2593
retinal disease	777
Leber congenital amaurosis	72
Leber congenital amaurosis 7	2

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.

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

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