Synonyms: Dorfman-Chanarin disease neutral lipid storage disease with ichthyosis NLSDI Chanarin-Dorfman syndrome
Term information
- Orphanet:98907 (OMIM:275630)
- NORD:1283 (MONDO:NORD)
- SCTID:19604005 (MONDO:equivalentTo)
- OMIM:275630 (Orphanet:98907/e)
- GARD:3979 (Orphanet:98907)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
http://www.orpha.net/ORDO/Orphanet_98907
http://identifiers.org/snomedct/19604005
https://omim.org/entry/275630
CDS
Dorfman-Chanarin syndrome
disorder of cornification 12 (neutral lipid storage type)
Chanarin-Dorfman disease
ichthyotic neutral Lipid storage disease
neutral Lipid storage disease with ichthyosis
DCs
neutral lipid storage disease with ichthyotic
ichthyosiform erythroderma with leukocyte vacuolation
triglyceride storage disease with impaired long-chain fatty acid oxidation
Dorfman Chanarin syndrome