Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5

Synonyms

HHF5

ID

http://purl.bioontology.org/ontology/OMIM/609968

altLabel

HHF5

cui

C1864952

Gene Locus

19p13.2

Gene Symbol

INSR

HHF5

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU029258

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

http://purl.bioontology.org/ontology/OMIM/MTHU000415

http://purl.bioontology.org/ontology/OMIM/MTHU029942

http://purl.bioontology.org/ontology/OMIM/MTHU000417

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

http://purl.bioontology.org/ontology/OMIM/MTHU000418

http://purl.bioontology.org/ontology/OMIM/MTHU000416

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

609968

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566494 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566494 Medical Subject Headings LOOM