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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 ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency OMIM
ClinVar
PMID:1301198 PMID:9536098 PMID:9683595 PMID:10633133 PMID:11243727 More... NCBI chr 7:19,351,485...19,375,515
Ensembl chr 7:19,351,361...19,379,098
JBrowse link
G DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 7:19,044,229...19,219,055
Ensembl chr 7:19,048,088...19,219,075
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 chr 7:19,289,385...19,355,606
Ensembl chr 7:19,291,174...19,346,619
JBrowse link
G MRS2 magnesium transporter MRS2 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 7:19,244,607...19,295,483
Ensembl chr 7:19,244,661...19,291,531
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    Developmental Disease 17261
      Neurodevelopmental Disorders 6609
        Developmental Disabilities 768
          succinic semialdehyde dehydrogenase deficiency 4
Path 2
Term Annotations click to browse term
  disease 17416
    disease of anatomical entity 14861
      nervous system disease 12936
        central nervous system disease 11582
          brain disease 10874
            disease of mental health 7854
              Neurodevelopmental Disorders 6609
                Developmental Disabilities 768
                  succinic semialdehyde dehydrogenase deficiency 4
paths to the root