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OMIM ID
275630
OMIM term:
CHANARIN-DORFMAN SYNDROME; CDS
Alternative terms:
NEUTRAL LIPID STORAGE DISEASE WITH ICHTHYOSIS; NLSDI
TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION
ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE
DORFMAN-CHANARIN SYNDROME; DCS
CHANARIN-DORFMAN DISEASE
ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION
(∗) Location:
3p21.33
(†) Associated OMIM genes:
ABHD5
(‡) Associated MGI genes:
Abhd5
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