loading...| Preferred Name | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 | |
| Synonyms |
HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY HYPERINSULINISM, CONGENITAL PHHI HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY HHF1 HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS NESIDIOBLASTOSIS OF PANCREAS |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/256450 |
|
| altLabel |
HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY HYPERINSULINISM, CONGENITAL PHHI HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY HHF1 HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS NESIDIOBLASTOSIS OF PANCREAS |
|
| cui |
C0027773 C3888018 C2931832 |
|
| Gene Locus |
11p15.1 |
|
| Gene Symbol |
HHF1 ABCC8 PHHI SUR SUR1 PNDM3 TNDM2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000412 http://purl.bioontology.org/ontology/OMIM/MTHU000372 http://purl.bioontology.org/ontology/OMIM/MTHU000371 http://purl.bioontology.org/ontology/OMIM/MTHU000377 http://purl.bioontology.org/ontology/OMIM/MTHU005715 http://purl.bioontology.org/ontology/OMIM/MTHU000370 http://purl.bioontology.org/ontology/OMIM/MTHU000415 http://purl.bioontology.org/ontology/OMIM/MTHU000368 http://purl.bioontology.org/ontology/OMIM/MTHU067759 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
256450 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 |
|
| Scope Statement |
Caused by mutation in the ATP-binding cassette, subfamily C, member 8 gene (ABCC8, 600509.0001) [MOLECULAR BASIS] Genetic heterogeneity [MISCELLANEOUS] |
|
| tui |
T047 |