Triglyceride Storage Disease With Ichthyosis
| Disease Aliases (15) | Cds Chanarin-dorfman disease Chanarin-dorfman syndrome Chanarin-dorfman syndrome; cds Dcs Dorfman-chanarin syndrome Disorder of cornification 12 (neutral lipid storage type) Dorfman chanarin syndrome Dorfman-chanarin disease Ichthyosiform erythroderma with leukocyte vacuolation Ichthyotic neutral lipid storage disease Neutral lipid storage disease with ichthyosis Nlsdi Neutral lipid storage disease with ichthyotic Triglyceride storage disease with impaired long-chain fatty acid oxidation |
Associated Genes (1) NCBI-RefSeq: ABHD5 (Abhydrolase domain containing 5, lysophosphatidic acid acyltransferase) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Triglyceride storage disease with ichthyosis | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |