Link to this page
National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
Jump to:
| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85070
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85070
|
|---|---|
| Preferred Name | Sjogren-Larsson Syndrome |
| 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.
|
| Synonyms |
Sjogren-Larsson Syndrome
Fatty Aldehyde Dehydrogenase Deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Sjogren-Larsson Syndrome
|
|---|---|
| Preferred_Name |
Sjogren-Larsson Syndrome
|
| Semantic_Type |
Disease or Syndrome
|
| prefixIRI |
Thesaurus:C85070
|
| 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.
|
| UMLS_CUI |
C0037231
|
| code |
C85070
|
| subClassOf | |
| type | |
| FULL_SYN |
Sjogren-Larsson Syndrome
Fatty Aldehyde Dehydrogenase Deficiency
|
| Contributing_Source |
Cellosaurus
|
| Concept_In_Subset |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |