ONTOLOGY REPORT - ANNOTATIONS


Term:methylmalonic aciduria and homocystinuria type cblF
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Accession:DOID:0050717 term browser browse the term
Definition:A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). (DO)
Synonyms:exact_synonym: Cobalamin F Disease;   Cobalamin F deficiency;   Cobalamin, Defect in Lysosomal Release of;   Methylmalonic Acidemia and Homocystinuria, CblF Type;   Methylmalonic Aciduria due to Vitamin B12-Release Defect;   Vitamin B12 Lysosomal Release Defect;   Vitamin B12 Storage Disease;   cblF
 primary_id: MESH:C564747;   RDO:0013606
 alt_id: OMIM:277380
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methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:7240710
RGD:8554872

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  disease 14920
    Nutritional and Metabolic Diseases 4265
      disease of metabolism 4265
        inherited metabolic disorder 1823
          amino acid metabolic disorder 341
            methylmalonic acidemia 32
              methylmalonic aciduria and homocystinuria type cblF 1
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Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          inherited metabolic disorder 1823
            amino acid metabolic disorder 341
              organic acidemia 55
                methylmalonic acidemia 32
                  methylmalonic aciduria and homocystinuria type cblF 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.