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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:9536098 PMID:9683595 PMID:10633133 PMID:11243727 PMID:12208142 PMID:12507422 PMID:14523039 PMID:14635103 PMID:16115930 PMID:17576681 PMID:20018576 PMID:22437753 PMID:23430864 PMID:23825041 PMID:24033266 PMID:25431891 PMID:25641190 PMID:25741868 PMID:26220405 PMID:26964512 PMID:27104484 PMID:27117035 PMID:27896081 PMID:28492532 PMID:28664505 PMID:29031482 PMID:29895405 PMID:30091983 PMID:31117962 PMID:32238909 PMID:32887777 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 PMID:30091983 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 16909
    Developmental Disease 10557
      Neurodevelopmental Disorders 5563
        Developmental Disabilities 519
          succinic semialdehyde dehydrogenase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              Neurodevelopmental Disorders 5563
                Developmental Disabilities 519
                  succinic semialdehyde dehydrogenase deficiency 2
paths to the root