OBO ID: DOID:0111698 |
Term Name: | proprotein convertase 1/3 deficiency | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111698 ) |
OTHER proprotein convertase 1/3 deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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