neutral lipid storage disease - 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:	neutral lipid storage disease	go back to main search page
Accession:	DOID:0050729	browse the term
Definition:	A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. (DO)
Synonyms:	exact_synonym:	CDS; Chanarin-Dorfman disease; Chanarin-Dorfman syndrome; DCS; Ichthyosiform erythroderma with leukocyte vacuolation; Ichthyotic neutral lipid storage disease; NLSDI; Neutral Lipid Storage Disease With Ichthyosis; Neutral lipid storage myopathy; Triglyceride Storage Disease with Ichthyosis; Triglyceride storage disease with impaired long-chain fatty acid oxidation
	primary_id:	MESH:C536560
	alt_id:	OMIM:275630; RDO:0002178
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (3)

neutral lipid storage disease

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abhd5

abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

ISO

ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
ClinVar Annotator: match by OMIM:275630

OMIM
ClinVar

PMID:6181472 PMID:11590543 PMID:15136565 PMID:20022472 PMID:20520629 PMID:25741868 PMID:27025581 PMID:28492532 PMID:31883530

NCBI chr 8:130,973,222...131,001,448
Ensembl chr 8:130,973,201...131,001,458

Ano10

anoctamin 10

ISO

ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis

ClinVar

PMID:11590543 PMID:28492532

NCBI chr 8:130,812,941...130,931,021
Ensembl chr 8:130,813,214...130,930,990

Pnpla2

patatin-like phospholipase domain containing 2

ISO

ClinVar Annotator: match by term: Neutral lipid storage myopathy