Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease autosomal recessive disorder |
| gptkbp:affects |
gptkb:skin
liver ears muscles |
| gptkbp:causedBy |
mutation in ABHD5 gene
|
| gptkbp:firstDescribed |
1974
|
| https://www.w3.org/2000/01/rdf-schema#label |
Chanarin-Dorfman syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
Jehuda Chanarin
M. Dorfman |
| gptkbp:OMIM |
275630
|
| gptkbp:otherName |
neutral lipid storage disease with ichthyosis
|
| gptkbp:symptom |
intellectual disability
muscle weakness hearing loss hepatomegaly ichthyosis |
| gptkbp:bfsParent |
gptkb:neutral_lipid_storage_disease
|
| gptkbp:bfsLayer |
8
|