ONTOLOGY REPORT - ANNOTATIONS


Term:succinic semialdehyde dehydrogenase deficiency
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Accession:DOID:0060175 term browser browse the term
Definition:A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. (DO)
Synonyms:exact_synonym: 4-hydroxybutyric aciduria;   4-hydroxybutyricaciduria;   GABA METABOLIC DEFECT;   SSADH;   SSADH deficiency;   SSADHD;   SUCCINATE-SEMIALDEHYDE DEHYDROGENASE DEFICIENCY;   gamma-hydroxybutyric acidemia;   gamma-hydroxybutyric aciduria
 primary_id: MESH:C535803
 alt_id: OMIM:271980;   RDO:0001112
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succinic semialdehyde dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 JBrowse link 17 42,133,076 42,159,413 RGD:7240710
RGD:8554872
RGD:11554173
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 JBrowse link 17 42,085,027 42,131,344 RGD:8554872

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  disease 14875
    Developmental Diseases 7711
      Neurodevelopmental Disorders 2756
        Developmental Disabilities 342
          succinic semialdehyde dehydrogenase deficiency 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              Neurodevelopmental Disorders 2756
                Developmental Disabilities 342
                  succinic semialdehyde dehydrogenase deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.