ONTOLOGY REPORT - ANNOTATIONS


Term:multiple carboxylase deficiency
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Accession:DOID:857 term browser browse the term
Definition:A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
Synonyms:exact_synonym: Combined Carboxylase Deficiencies;   Combined Carboxylase Deficiency;   Multiple Carboxylase Deficiencies
 primary_id: MESH:D009100;   RDO:0006147
 xref: GARD:3824
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biotinidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btd biotinidase JBrowse link 16 7,758,192 7,791,301 RGD:7240710
RGD:8554872
G Hacl1 2-hydroxyacyl-CoA lyase 1 JBrowse link 16 7,720,047 7,758,119 RGD:8554872
holocarboxylase synthetase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hlcs holocarboxylase synthetase JBrowse link 11 34,357,372 34,537,798 RGD:1302549
RGD:7240710
RGD:8554872

Term paths to the root
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Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            multiple carboxylase deficiency 3
              biotinidase deficiency + 2
              holocarboxylase synthetase deficiency 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            carbohydrate metabolic disorder 302
              multiple carboxylase deficiency 3
                biotinidase deficiency + 2
                holocarboxylase synthetase deficiency 1
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