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proprotein convertase 1/3 deficiency

Go to external page http://purl.obolibrary.org/obo/DOID_0111698

A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in PCSK1 on chromosome 5q15. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

proprotein convertase 1/3 deficiency

Synonyms
  • PCI deficiency
  • obesity and endocrinopathy due to impaired processing of prohormones
  • obesity due to prohormone convertase I deficiency
  • obesity with impaired prohormone processing
database cross reference
has obo namespace

disease_ontology

id

DOID:0111698