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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 IAGP
EXP
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:1301198 PMID:9536098 PMID:9683595 PMID:10633133 PMID:11243727 More... NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207
JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
JBrowse link
G GPLD1 glycosylphosphatidylinositol specific phospholipase D1 IAGP ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:14635103 PMID:17438226 PMID:23430864 PMID:25246302 PMID:25741868 More... NCBI chr 6:24,423,969...24,495,287
Ensembl chr 6:24,424,565...24,495,205
JBrowse link
G KAAG1 kidney associated DCDC2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 6:24,356,903...24,358,285
Ensembl chr 6:24,356,903...24,358,285
JBrowse link
G LOC129995978 ATAC-STARR-seq lymphoblastoid silent region 16989 IAGP ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:14635103 PMID:17438226 PMID:23430864 PMID:25246302 PMID:25741868 More...
G LOC129995983 ATAC-STARR-seq lymphoblastoid silent region 16992 IAGP ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:16542398 PMID:34882073
G MRS2 magnesium transporter MRS2 IAGP ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 6:24,402,936...24,426,190
Ensembl chr 6:24,402,908...24,426,194
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    Developmental Disease 36027
      Neurodevelopmental Disorders 13289
        Developmental Disabilities 1472
          succinic semialdehyde dehydrogenase deficiency 7
Path 2
Term Annotations click to browse term
  disease 40721
    disease of anatomical entity 32019
      nervous system disease 25893
        central nervous system disease 23130
          brain disease 21572
            disease of mental health 16903
              Neurodevelopmental Disorders 13289
                Developmental Disabilities 1472
                  succinic semialdehyde dehydrogenase deficiency 7
paths to the root