Lysosomal Storage Diseases, Nervous System - 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:	Lysosomal Storage Diseases, Nervous System	go back to main search page
Accession:	DOID:9008012	browse the term
Definition:	A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.
Synonyms:	exact_synonym:	Nervous System Lysosomal Enzyme Disorders
	primary_id:	MESH:D020140; RDO:0005638
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (76)

Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

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Ankib1

ankyrin repeat and IBR domain containing 1

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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RGD DISEASE ONTOLOGY - ANNOTATIONS