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DOID:0111698 - proprotein convertase 1/3 deficiency
Disease Ontology Definition: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: obesity and endocrinopathy due to impaired processing of prohormones, obesity due to prohormone convertase I deficiency, obesity with impaired prohormone processing, PCI deficiency
Xenbase Genes
:
pcsk1
| MIM:600955 - PROPROTEIN CONVERTASE 1/3 DEFICIENCY |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)