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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: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;   gamma-hydroxybutyric acidemia;   gamma-hydroxybutyric aciduria;   succinate-semialdehyde dehydrogenase deficiency
 primary_id: MESH:C535803
 alt_id: OMIM:271980



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succinic semialdehyde dehydrogenase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency
OMIM
CTD
ClinVar
PMID:1301198 PMID:9536098 PMID:9683595 PMID:10633133 PMID:11243727 More... NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
JBrowse link
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
JBrowse link
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:14635103 PMID:17438226 PMID:23430864 PMID:25246302 PMID:25741868 More... NCBI chr17:40,084,427...40,132,035
Ensembl chr17:40,084,617...40,126,939
JBrowse link
G Mrs2 magnesium transporter MRS2 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr17:40,063,924...40,087,073
Ensembl chr17:40,063,962...40,081,887
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Neurodevelopmental Disorders 6821
        Developmental Disabilities 775
          succinic semialdehyde dehydrogenase deficiency 4
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            disease of mental health 8291
              Neurodevelopmental Disorders 6821
                Developmental Disabilities 775
                  succinic semialdehyde dehydrogenase deficiency 4
paths to the root