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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

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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 OMIM
ClinVar		 PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 More... NCBI chrNW_004936488:3,320,357...3,340,463
Ensembl chrNW_004936488:3,318,422...3,340,626 		JBrowse link
G Bbof1 basal body orientation factor 1 ISO ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency ClinVar PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 More... NCBI chrNW_004936488:3,281,863...3,317,680 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6781
      disease of metabolism 6781
        inherited metabolic disorder 5212
          amino acid metabolic disorder 1437
            Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5212
            purine-pyrimidine metabolic disorder 189
              Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
paths to the root