Preferred Name |
Sjogren-Larsson Syndrome |
|
Synonyms |
Sjogren-Larsson Syndrome Fatty Aldehyde Dehydrogenase Deficiency |
|
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. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85070 |
|
code |
C85070 |
|
Concept_In_Subset | ||
Contributing_Source |
Cellosaurus |
|
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. |
|
FULL_SYN |
Sjogren-Larsson Syndrome Fatty Aldehyde Dehydrogenase Deficiency |
|
label |
Sjogren-Larsson Syndrome |
|
Preferred_Name |
Sjogren-Larsson Syndrome |
|
prefixIRI |
Thesaurus:C85070 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0037231 |
|
subClassOf |