Preferred Name |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 |
Synonyms |
NESIDIOBLASTOSIS OF PANCREAS |
ID |
http://purl.bioontology.org/ontology/OMIM/256450 |
altLabel |
NESIDIOBLASTOSIS OF PANCREAS HHF1 HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS HYPERINSULINISM, CONGENITAL PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY PHHI |
cui |
C2931832 C0027773 C3888018 |
Gene Locus |
11p15.1 |
Gene Symbol |
HHF1 SUR SUR1 PHHI TNDM2 ABCC8 |
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU042096 http://purl.bioontology.org/ontology/OMIM/MTHU000377 http://purl.bioontology.org/ontology/OMIM/MTHU000370 http://purl.bioontology.org/ontology/OMIM/MTHU010711 http://purl.bioontology.org/ontology/OMIM/MTHU010713 http://purl.bioontology.org/ontology/OMIM/MTHU000372 http://purl.bioontology.org/ontology/OMIM/MTHU005715 http://purl.bioontology.org/ontology/OMIM/MTHU000415 http://purl.bioontology.org/ontology/OMIM/MTHU001096 http://purl.bioontology.org/ontology/OMIM/MTHU000368 http://purl.bioontology.org/ontology/OMIM/MTHU000412 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
256450 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 |
tui |
T047 |