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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:271980
OMIM
ClinVar
CTD
PMID:1301198, PMID:7726383, PMID:9683595, PMID:10633133, PMID:11243727, PMID:12208142, PMID:12507422, PMID:12743223, PMID:14523039, PMID:14635103, PMID:16115930, PMID:16298354, PMID:19172412, PMID:20018576, PMID:22437753, PMID:23430864, PMID:23825041, PMID:24033266, PMID:25431891, PMID:25641190, PMID:25741868, PMID:26220405, PMID:26268900, PMID:26964512, PMID:27104484, PMID:27117035, PMID:27268762, PMID:28492532, PMID:28664505, PMID:29031482, PMID:29895405, PMID:30311386, PMID:31117962, PMID:32238909 NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
JBrowse link
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:25741868, PMID:28492532 NCBI chr17:42,085,027...42,131,344
Ensembl chr17:42,085,028...42,127,678
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Neurodevelopmental Disorders 4619
        Developmental Disabilities 692
          succinic semialdehyde dehydrogenase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              Neurodevelopmental Disorders 4619
                Developmental Disabilities 692
                  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.