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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


show annotations for term's descendants           Sort by:
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 IAGP
EXP		 ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 More... NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
G BBOF1 basal body orientation factor 1 IAGP ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency ClinVar PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 More... NCBI chr14:74,019,349...74,082,864
Ensembl chr14:74,019,349...74,082,863 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10568
      disease of metabolism 10568
        inherited metabolic disorder 7856
          amino acid metabolic disorder 1841
            Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          inherited metabolic disorder 7856
            purine-pyrimidine metabolic disorder 239
              Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
paths to the root