hyperinsulinemic hypoglycemia with polycystic kidney disease

Go to external page http://purl.obolibrary.org/obo/MONDO_1030000


Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter. [ https://clinicalgenome.org/affiliation/40066/ http://www.ncbi.nlm.nih.gov/pubmed/28373276 http://www.ncbi.nlm.nih.gov/pubmed/36412659 ]

Synonyms: HIPKD

This is just here as a test because I lose it

Term information

Subsets

rare, inferred_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/7457

creator

https://orcid.org/0000-0002-3458-4839

id

MONDO:1030000

Term relations