CGI-58 deficiency

Synonym(s)
- Chanarin-Dorfman syndrome,
- neutral lipid storage disease with ichthyosis
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ABHD5 / Abhydrolase Domain Containing 5
  3p21.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adipose triglyceride lipase
Disease group(s)
- 14.4 Disorders of glycerolipid metabolism