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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:methylmalonic aciduria and homocystinuria type cblD
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Accession:DOID:0050716 term browser browse the term
Definition:A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. (DO)
Synonyms:exact_synonym: Cobalamin D deficiency;   MAHCD;   METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE METHYLMALONIC ACIDURIA, cblH TYPE;   METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA CBLD;   Methylmalonic Acidemia and Homocystinuria, CblD Type;   methylmalonic aciduria with homocystinuria, cblD type
 narrow_synonym: HOMOCYSTINURIA, cblD TYPE, VARIANT 1;   METHYLMALONIC ACIDEMIA, cblH TYPE;   METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2
 primary_id: MESH:C564743
 alt_id: OMIM:277410
 xref: NCI:C183524


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methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMADHC metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2 OMIM
ClinVar		 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr15:2,499,080...2,517,361
Ensembl chr15:2,499,154...2,520,799 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr12:5,847,170...5,855,791
Ensembl chr12:5,847,187...5,854,882 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15289
    disease of anatomical entity 14926
      musculoskeletal system disease 7703
        connective tissue disease 5255
          homocystinuria 86
            Methylmalonic Aciduria and Homocystinuria 22
              methylmalonic aciduria and homocystinuria type cblD 2
Path 2
Term Annotations click to browse term
  disease 15289
    Nutritional and Metabolic Diseases 7091
      disease of metabolism 7091
        acquired metabolic disease 2207
          nutrition disease 805
            Malnutrition 251
              nutritional deficiency disease 236
                Avitaminosis 196
                  Vitamin B Deficiency 151
                    hyperhomocysteinemia 121
                      homocystinuria 86
                        Methylmalonic Aciduria and Homocystinuria 22
                          methylmalonic aciduria and homocystinuria type cblD 2
paths to the root