- Concept UI
- M0024610
- Scope Note
- An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.
- Terms
-
Sjogren-Larsson Syndrome
Preferred Term
Term UI
T047868
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Fatty Aldehyde Dehydrogenase Deficiency Disease
Term UI
T647940
Date08/04/2005
LexicalTag
NON
ThesaurusID
NLM (2007)
-
Fatty Aldehyde Dehydrogenase Deficiency
Term UI
T752534
Date06/09/2009
LexicalTag
NON
ThesaurusID
-
FALDH Deficiency
Term UI
T752535
Date06/09/2009
LexicalTag
NON
ThesaurusID
-
Fatty Alcohol:NAD+ Oxidoreductase Deficiency
Term UI
T752536
Date06/09/2009
LexicalTag
NON
ThesaurusID
-
Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia
Term UI
T752537
Date06/09/2009
LexicalTag
NON
ThesaurusID
-
Sjögren-Larsson Syndrome
Term UI
T842461
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Congenital Icthyosis Mental Retardation Spasticity Syndrome
Term UI
T842462
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Ichthyosis Oligophrenia Syndrome
Term UI
T842463
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)