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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:Methylmalonate Semialdehyde Dehydrogenase Deficiency
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Accession:DOID:9006567 term browser browse the term
Synonyms:exact_synonym: MMSDH Deficiency;   MMSDHD
 primary_id: MESH:C566402;   RDO:0014766
 alt_id: OMIM:614105
For additional species annotation, visit the Alliance of Genome Resources.


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Methylmalonate Semialdehyde Dehydrogenase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency ClinVar
OMIM
PMID:3117077, PMID:3939535, PMID:10947204, PMID:11446412, PMID:21863277, PMID:23835272, PMID:25741868, PMID:28492532, PMID:32151545 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Bbof1 basal body orientation factor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency
ClinVar PMID:3117077, PMID:3939535, PMID:10947204, PMID:11446412, PMID:21863277, PMID:23835272, PMID:25741868, PMID:28492532, PMID:32151545 NCBI chr 6:108,123,855...108,149,613
Ensembl chr 6:108,123,816...108,149,607
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            purine-pyrimidine metabolic disorder 35
              Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.