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ONTOLOGY REPORT - ANNOTATIONS


Term:Sjogren-Larsson syndrome
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Accession:DOID:14501 term browser browse the term
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.
Synonyms:exact_synonym: FALDH Deficiency;   Fatty Alcohol:NAD+ Oxidoreductase Deficiency;   Fatty Aldehyde Dehydrogenase Deficiency;   Fatty Aldehyde Dehydrogenase Deficiency Disease;   Ichthyosis Oligophrenia Syndrome;   SLS;   Sjogren-Larsson's syndrome;   Sjögren-Larsson Syndrome;   congenital icthyosis, mental retardation, spasticity syndrome;   ichthyosis, spastic neurologic disorder, and oligophrenia
 primary_id: MESH:D016111
 alt_id: OMIM:270200;   RDO:0002312
 xref: GARD:7654
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Sjogren-Larsson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 JBrowse link 10 47,525,486 47,546,535 RGD:7240710
RGD:8554872
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Sjogren-Larsson syndrome 1
        Sjogren-Larsson-like Syndrome 0
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            Skin Abnormalities 340
              ichthyosis 54
                Sjogren-Larsson syndrome 1
                  Sjogren-Larsson-like Syndrome 0
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