P450 Oxidoreductase Deficiency

Preferred Label : P450 Oxidoreductase Deficiency;

Alternative definition : NICHD: Decreased or absent activity of P450 oxidoreductase due to mutation(s) in the POR gene.;

NCI Metathesaurus CUI : CL514537;

Details

Origin ID

C131302;

UMLS CUI

C4330909;

Automatic exact mappings (from CISMeF team)
- Antley-Bixler syndrome phenotype [MeSH Descriptor]
Semantic type(s)
- Laboratory or Test Result [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- POR Gene [NCIt concept]
related_to_genetic_biomarker
- POR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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