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Summary Literature (0)
DOID:0050729 - Chanarin-Dorfman syndrome

Disease Ontology Definition:A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.

Synonyms: Chanarin-Dorfman syndrome, neutral lipid storage disease

Xenbase Genes : abhd5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015611 - neutral lipid storage disease

MIM:
MIM:275630 - CHANARIN-DORFMAN SYNDROME; CDS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): lipid storage disease (is_a)