loading...| Preferred Name | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | |
| Synonyms |
HYPERINSULINISM, CONGENITAL HYPERINSULINISM, FAMILIAL HHF2 NESIDIOBLASTOSIS HYPERINSULINISM, NEONATAL HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT PHHI HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/601820 |
|
| altLabel |
HYPERINSULINISM, CONGENITAL HYPERINSULINISM, FAMILIAL HHF2 NESIDIOBLASTOSIS HYPERINSULINISM, NEONATAL HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT PHHI HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY |
|
| cui |
C0027773 C3888018 C2931833 |
|
| Gene Locus |
11p15.1 |
|
| Gene Symbol |
BIR PNDM2 MODY13 PHHI KCNJ11 TNDM3 HHF2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000372 http://purl.bioontology.org/ontology/OMIM/MTHU000371 http://purl.bioontology.org/ontology/OMIM/MTHU000377 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
601820 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 |
|
| Scope Statement |
Caused by mutation in the potassium inwardly-rectifying channel, subfamily J, member 11 gene (KCNJ11, 600937.0001) [MOLECULAR BASIS] Genetic heterogeneity (see HHF1 256450) [MISCELLANEOUS] |
|
| tui |
T047 |