Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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

http://purl.bioontology.org/ontology/OMIM/MTHU000371

http://purl.bioontology.org/ontology/OMIM/MTHU010712

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

256450

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1

tui

T047

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http://purl.bioontology.org/ontology/MESH/D046768 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D044903 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D044903 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/E16.9 International Classification of Diseases, Version 10 - Clinical Modification CUI