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loading...| Preferred Name | Sjogren-Larsson Syndrome | |
| Synonyms |
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| Definitions |
An autosomal recessive condition caused by mutation(s) in the ALDH3A2 gene, encoding fatty aldehyde dehydrogenase. It is a characterized by dry and scaly skin, neurological dysfunction and mild to moderate intellectual disability. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C85070 |
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| code |
C85070 |
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| Contributing_Source |
Cellosaurus |
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| definition |
An autosomal recessive condition caused by mutation(s) in the ALDH3A2 gene, encoding fatty aldehyde dehydrogenase. It is a characterized by dry and scaly skin, neurological dysfunction and mild to moderate intellectual disability. |
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| in_subset | ||
| label |
Sjogren-Larsson Syndrome |
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| Preferred_Name |
Sjogren-Larsson Syndrome |
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| prefixIRI |
NCIT:C85070 |
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| prefLabel |
Sjogren-Larsson Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0037231 |
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| subClassOf |
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