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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:A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. (DO)
Synonyms:exact_synonym: FALDH deficiency;   Fatty Alcohol:NAD+ Oxidoreductase Deficiency;   Fatty Aldehyde Dehydrogenase Deficiency;   SLS;   Sjogren-Larsson's syndrome;   Sjögren-Larsson syndrome;   congenital icthyosis, mental retardation, spasticity syndrome;   fatty acid alcohol oxidoreductase deficiency;   fatty aldehyde dehydrogenase deficiency disease;   ichthyosis oligophrenia syndrome;   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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Sjogren-Larsson syndrome 2
        Sjogren-Larsson-like Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      nervous system disease 13993
        Neurologic Manifestations 9942
          sensory system disease 6847
            skin disease 3903
              Skin Abnormalities 1293
                ichthyosis 88
                  Sjogren-Larsson syndrome 2
                    Sjogren-Larsson-like Syndrome 0
paths to the root