Leber congenital amaurosis 8 - 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 8	go back to main search page
Accession:	DOID:0110079	browse the term
Definition:	A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. (DO)
Synonyms:	exact_synonym:	LCA8
	primary_id:	OMIM:613835
	alt_id:	RDO:9000513
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (1) Mouse (1) Human (156) Chinchilla (1) Bonobo (1) Dog (1) Squirrel (1) Pig (1) All
Genes (1)

Leber congenital amaurosis 8

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Crb1

crumbs cell polarity complex component 1

ISO

ClinVar Annotator: match by OMIM:613835
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Leber congenital amaurosis 8

OMIM
ClinVar

PMID:1389483 PMID:1427914 PMID:2906847 PMID:10508521 PMID:11231775 PMID:11389483 PMID:12567265 PMID:12700176 PMID:12843338 PMID:14971589 PMID:15024725 PMID:15459956 PMID:15623792 PMID:16123401 PMID:16272259 PMID:16505055 PMID:16543197 PMID:17128490 PMID:17297678 PMID:17525851 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18682808 PMID:19140180 PMID:19339744 PMID:19401883 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20956273 PMID:21602930 PMID:22065545 PMID:22277662 PMID:22968130 PMID:23105016 PMID:23379534 PMID:23449718 PMID:23462753 PMID:23591405 PMID:23592920 PMID:24033266 PMID:24265693 PMID:24512366 PMID:24715753 PMID:24938718 PMID:25097241 PMID:25133751 PMID:25323024 PMID:25474345 PMID:25741868 PMID:26047050 PMID:26147992 PMID:26667666 PMID:27096895 PMID:27113771 PMID:27157150 PMID:27258436 PMID:27375279 PMID:27380427 PMID:27628848 PMID:28005958 PMID:28041643 PMID:28129017 PMID:28181551 PMID:28341475 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28819299 PMID:29068479 PMID:29178642 PMID:29186038 PMID:29391521 PMID:30029497 PMID:30576320 PMID:30718709

NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834

Term paths to the root

Path 1
Term	Annotations
disease	16123
physical disorder	2479
Leber congenital amaurosis	72
Leber congenital amaurosis 8	1
Path 2
Term	Annotations
disease	16123
Developmental Diseases	9597
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	8441
genetic disease	7944
monogenic disease	5725
autosomal genetic disease	4875
autosomal recessive disease	2668
Leber congenital amaurosis 8	1

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