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neutral lipid storage disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0015611

Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished. [ Orphanet:165 ]

Synonyms: lipidosis with triglyceride storage disease

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050729 (MONDO:equivalentTo)
  • Orphanet:165 (MONDO:equivalentTo)
  • GARD:3262 (Orphanet:165)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

comment

Editor note: DOID:0050729 and wikipedia treat CD-syndrome and NLSD as one, but we follow orphanet is placing CD as a subtype.

exactMatch

http://www.orpha.net/ORDO/Orphanet_165

http://purl.obolibrary.org/obo/DOID_0050729

has narrow synonym

Chanarin-Dorfman syndrome

has related synonym

lipidosis with triglycerid storage disease

id

MONDO:0015611