Search Ontology:
Human Disease

holocarboxylase synthetase deficiency

Term ID
DOID:859
Synonyms
  • Biotin-(propionyl-CoA-carboxylase) ligase deficiency
  • Multiple carboxylase deficiency - neonatal onset
Definition
A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency
References
  • GARD:2721
  • ICD10CM:D81.818
  • MESH:D028922
  • MIM:253270
  • NCI:C98842
  • SNOMEDCT_US_2023_03_01:15307001
  • UMLS_CUI:C0268581
Ontology
Human Disease   ( DOID:859 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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