loading...| Preferred Name | Sjogren-Larsson Syndrome | |
| Synonyms |
FALDH Deficiency Ichthyosis Oligophrenia Syndrome Sjögren-Larsson Syndrome Congenital Icthyosis Mental Retardation Spasticity Syndrome Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia Fatty Alcohol:NAD+ Oxidoreductase Deficiency Sjogren Larsson Syndrome Fatty Aldehyde Dehydrogenase Deficiency Disease Fatty Aldehyde Dehydrogenase Deficiency |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D016111 |
|
| altLabel |
FALDH Deficiency Ichthyosis Oligophrenia Syndrome Sjögren-Larsson Syndrome Congenital Icthyosis Mental Retardation Spasticity Syndrome Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia Fatty Alcohol:NAD+ Oxidoreductase Deficiency Sjogren Larsson Syndrome Fatty Aldehyde Dehydrogenase Deficiency Disease Fatty Aldehyde Dehydrogenase Deficiency |
|
| AN |
do not confuse with SJOGREN'S SYNDROME; in titles & translations use diacritic: Sjögren-Larsson |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0037231 |
|
| DC |
1 |
|
| definition |
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. |
|
| DX |
19910101 |
|
| HN |
1991; use ICHTHYOSIS 1984-1990 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
1991; see ICHTHYOSIS 1984-1990 |
|
| Mapped from | ||
| MDA |
19900606 |
|
| MMR |
20210701 |
|
| MN |
C16.131.831.512.723 C16.320.565.398.641.723 C16.614.492.723 C18.452.584.563.641.723 C17.800.428.333.723 C18.452.648.398.641.723 C17.800.827.820 C17.800.804.512.723 C16.320.850.820 |
|
| notation |
D016111 |
|
| prefLabel |
Sjogren-Larsson Syndrome |
|
| TERMUI |
T842461 T842463 T842462 T752537 T647940 T752534 T752536 T752535 T047868 |
|
| TH |
OMIM (2013) NLM (1991) NLM (2010) GHR (2014) NLM (2007) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D007057 |