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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 
Barth syndrome 
cerebral lipidosis with dementia +  
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 
fatty acid hydroxylase-associated neurodegeneration 
GM3 synthase deficiency 
hereditary sensory and autonomic neuropathy type 1 +  
hereditary spastic paraplegia 39 
lysosomal acid lipase deficiency +  
megaconial type congenital muscular dystrophy 
neuronal ceroid lipofuscinosis +  
neutral lipid storage disease +  
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.
pantothenate kinase-associated neurodegeneration +  
PHARC syndrome 
progressive encephalopathy with leukodystrophy due to DECR deficiency 
Sengers syndrome 
Sjogren-Larsson syndrome 
sphingolipidosis +   
xanthomatosis +  

Synonyms
Exact Synonyms: lipidosis with triglyceride storage disease
Narrow Synonyms: Chanarin-Dorfman syndrome
Related Synonyms: lipidosis with triglycerid storage disease
Alternate IDs: MONDO:0015611
Xrefs: DOID:0050729 ;   GARD:3262 ;   MEDGEN:1853293 ;   NANDO:1200622 ;   NANDO:2200997 ;   ORDO:165 ;   UMLS:C5848057 ;   icd11.foundation:621440298
Definition Sources: Orphanet:165

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