| Descriptor English: | Sjogren-Larsson Syndrome | ||||
| Descriptor Spanish: |
Síndrome de Sjögren-Larsson
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| Descriptor Portuguese: | Síndrome de Sjogren-Larsson | ||||
| Descriptor French: | Syndrome de Sjögren-Larsson | ||||
| Entry term(s): |
Congenital Icthyosis Mental Retardation Spasticity Syndrome FALDH Deficiency Fatty Alcohol:NAD+ Oxidoreductase Deficiency Fatty Aldehyde Dehydrogenase Deficiency Fatty Aldehyde Dehydrogenase Deficiency Disease Ichthyosis Oligophrenia Syndrome Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia Sjogren Larsson Syndrome Sjögren-Larsson Syndrome |
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| Tree number(s): |
C16.131.831.512.723 C16.320.565.398.641.723 C16.320.850.820 C16.614.492.723 C17.800.428.333.723 C17.800.804.512.723 C17.800.827.820 C18.452.584.563.641.723 C18.452.648.398.641.723 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D016111 | ||||
| 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. |
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| Annotation: | do not confuse with SJOGREN'S SYNDROME; in titles & translations use diacritic: Sjögren-Larsson |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Ichthyosis (1966-1990) |
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| Public MeSH Note: | 1991; see ICHTHYOSIS 1984-1990 |
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| History Note: | 1991; use ICHTHYOSIS 1984-1990 |
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| DeCS ID: | 29121 | ||||
| Unique ID: | D016111 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 1991/01/01 | ||||
| Date of Entry: | 1990/06/06 | ||||
| Revision Date: | 2015/06/22 |
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Sjogren-Larsson Syndrome
- Preferred
| 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. |
| Preferred term | Sjogren-Larsson Syndrome |
| Entry term(s) |
Congenital Icthyosis Mental Retardation Spasticity Syndrome FALDH Deficiency Fatty Alcohol:NAD+ Oxidoreductase Deficiency Fatty Aldehyde Dehydrogenase Deficiency Fatty Aldehyde Dehydrogenase Deficiency Disease Ichthyosis Oligophrenia Syndrome Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia Sjogren Larsson Syndrome Sjögren-Larsson Syndrome |
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