LIH

LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY

http://purl.bioontology.org/ontology/OMIM/240800

LIH

LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY

C0271714

11p15.1

HHF1

ABCC8

PHHI

SUR

SUR1

PNDM3

TNDM2

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU012530

http://purl.bioontology.org/ontology/OMIM/MTHU046152

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU041966

http://purl.bioontology.org/ontology/OMIM/MTHU041973

http://purl.bioontology.org/ontology/OMIM/MTHU000370

http://purl.bioontology.org/ontology/OMIM/MTHU023473

http://purl.bioontology.org/ontology/OMIM/MTHU041972

http://purl.bioontology.org/ontology/OMIM/MTHU030327

http://purl.bioontology.org/ontology/OMIM/MTHU000368

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU036834

http://purl.bioontology.org/ontology/OMIM/MTHU041967

http://purl.bioontology.org/ontology/OMIM/MTHU067631

http://purl.bioontology.org/ontology/OMIM/MTHU067632

Phenotype description, molecular basis known.

240800

3

pound

HYPOGLYCEMIA, LEUCINE-INDUCED

Caused by mutation in the ATP-binding cassette, subfamily C, member 8 gene (ABCC8, 600509.0012) [MOLECULAR BASIS]

T047