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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   fatty acid alcohol oxidoreductase deficiency;   ichthyosis, spastic neurologic disorder, and oligophrenia
 primary_id: MESH:D016111
 alt_id: OMIM:270200
 xref: GARD:7654;   NCI:C85070;   ORDO:816
For additional species annotation, visit the Alliance of Genome Resources.


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Sjogren-Larsson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by OMIM:270200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sjögren-Larsson syndrome
OMIM
ClinVar
CTD
PMID:8528251, PMID:9204959, PMID:9250352, PMID:9254849, PMID:9467812, PMID:9829906, PMID:10384396, PMID:10577908, PMID:10792573, PMID:10854114, PMID:11408337, PMID:15241804, PMID:15931689, PMID:16536828, PMID:16546179, PMID:16837225, PMID:16903323, PMID:17902024, PMID:17971613, PMID:17998529, PMID:18035827, PMID:19124283, PMID:19965611, PMID:20049467, PMID:21531120, PMID:21872273, PMID:21968182, PMID:23450279, PMID:24033266, PMID:25047030, PMID:25641190, PMID:25741868, PMID:27717089, PMID:28025403, PMID:28257279, PMID:28471629, PMID:28492532, PMID:29071827, PMID:29159939, PMID:29183715, PMID:31273323 NCBI chr10:47,525,486...47,546,535
Ensembl chr10:47,525,493...47,546,345
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Sjogren-Larsson syndrome 1
        Sjogren-Larsson-like Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              ichthyosis 114
                Sjogren-Larsson syndrome 1
                  Sjogren-Larsson-like Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.