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DO Term : holocarboxylase synthetase deficiency [DOID:859] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:15307001,
  • 253270,
  • GARD:2721,
  • ICD10CM:D81.818,
  • Biotin-(propionyl-CoA-carboxylase) ligase deficiency,
  • MESH:D028922,
  • Multiple carboxylase deficiency - neonatal onset,
  • OMIM:253270,
  • UMLS_CUI:C0268581,
  • NCI:C98842
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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