Prohormone Convertase 1 Deficiency

Preferred Label : Prohormone Convertase 1 Deficiency;

NCIt synonyms : PCSK1 Deficiency;

NCIt related terms : Prohormone Convertase 1/3 Deficiency;

NCIt definition : Deficiency or dysfunction of the enzyme prohormone convertase 1 associated with loss-of-function mutation(s) in the PCSK1 gene.;

Alternative definition : NICHD: Presumed loss-of-function mutation(s) in the PCSK1 gene, resulting in decreased activity of the enzyme prohormone convertase 1.;

Details

Origin ID

C120407;

UMLS CUI

C4054147;

See also inter- (CISMeF)
- Obesity due to prohormone convertase I deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Finding [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- PCSK1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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