loading...| Preferred Name |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 |
| Synonyms |
HYPERINSULINISM, NEONATAL |
| ID |
http://purl.bioontology.org/ontology/OMIM/601820 |
| altLabel |
HYPERINSULINISM, NEONATAL HYPERINSULINISM, CONGENITAL PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA HHF2 PHHI HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT NESIDIOBLASTOSIS HYPERINSULINISM, FAMILIAL |
| cui |
C0027773 C3888018 C2931833 |
| Gene Locus |
11p15.1 |
| Gene Symbol |
KCNJ11 TNDM3 HHF2 PHHI MODY13 BIR |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU029258 http://purl.bioontology.org/ontology/OMIM/MTHU000377 http://purl.bioontology.org/ontology/OMIM/MTHU000372 http://purl.bioontology.org/ontology/OMIM/MTHU005715 http://purl.bioontology.org/ontology/OMIM/MTHU000368 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
601820 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 |
| tui |
T047 |