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DO Term : proprotein convertase 1/3 deficiency [DOID:0111698] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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 the PCSK1 gene on chromosome 5q15.
  • synonyms:
  • OMIM:600955,
  • obesity and endocrinopathy due to impaired processing of prohormones,
  • obesity due to prohormone convertase I deficiency,
  • MESH:C563423,
  • obesity with impaired prohormone processing,
  • ORDO:71528,
  • PCI deficiency,
  • 600955,
  • UMLS_CUI:C1833053
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents