has material basis in germline mutation in ABHD5 Dorfman-Chanarin disease https://www.malacards.org/card/chanarin_dorfman_syndrome NANDO:1200622 NANDO:1200623 DCs NANDO:2200997 Orphanet:98907 Chanarin-Dorfman Syndrome NORD:1283 CDS Dorfman Chanarin syndrome NLSDI SCTID:19604005 disorder of cornification 12 (neutral lipid storage type) UMLS:C0268238 MONDO:0010155 Chanarin-Dorfman syndrome neutral lipid storage disease with ichthyotic GARD:0003979 neutral lipid storage disease with ichthyosis OMIM:275630 icd11.foundation:690728790 MEDGEN:82780 neutral lipid storage disease obsolete autosomal ichthyosis syndrome