Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
Synonyms

PHOSPHORYLASE KINASE DEFICIENCY OF HEART
ID

http://purl.bioontology.org/ontology/OMIM/261740
altLabel

PHOSPHORYLASE KINASE DEFICIENCY OF HEART

GLYCOGEN STORAGE DISEASE OF HEART
cui

C1849813
Gene Locus

7q36
Gene Symbol

WPWS

PRKAG2

CMH6
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU049098

http://purl.bioontology.org/ontology/OMIM/MTHU049100

http://purl.bioontology.org/ontology/OMIM/MTHU037871

http://purl.bioontology.org/ontology/OMIM/MTHU005753

http://purl.bioontology.org/ontology/OMIM/MTHU045609

http://purl.bioontology.org/ontology/OMIM/MTHU045607

http://purl.bioontology.org/ontology/OMIM/MTHU037219

http://purl.bioontology.org/ontology/OMIM/MTHU045599

http://purl.bioontology.org/ontology/OMIM/MTHU045597

http://purl.bioontology.org/ontology/OMIM/MTHU045600

http://purl.bioontology.org/ontology/OMIM/MTHU045605

http://purl.bioontology.org/ontology/OMIM/MTHU045603

http://purl.bioontology.org/ontology/OMIM/MTHU049099

http://purl.bioontology.org/ontology/OMIM/MTHU045610

http://purl.bioontology.org/ontology/OMIM/MTHU038701

http://purl.bioontology.org/ontology/OMIM/MTHU036393

http://purl.bioontology.org/ontology/OMIM/MTHU045596

http://purl.bioontology.org/ontology/OMIM/MTHU001921

http://purl.bioontology.org/ontology/OMIM/MTHU045601

http://purl.bioontology.org/ontology/OMIM/MTHU045604

http://purl.bioontology.org/ontology/OMIM/MTHU024503

http://purl.bioontology.org/ontology/OMIM/MTHU045602

http://purl.bioontology.org/ontology/OMIM/MTHU045606
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

261740
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564888 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564888 Medical Subject Headings LOOM