Search Ontology:
Human Disease
proprotein convertase 1/3 deficiency
- Term ID
- DOID:0111698
- Synonyms
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- obesity and endocrinopathy due to impaired processing of prohormones
- obesity due to prohormone convertase I deficiency
- obesity with impaired prohormone processing
- PCI deficiency
- 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. (3)
- References
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- MESH:C563423
- MIM:600955
- ORDO:71528
- UMLS_CUI:C1833053
- Ontology
- Human Disease ( DOID:0111698 )
- is a type of
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