Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

D-GLYCERIC ACIDURIA

Synonyms

GLYCERATE KINASE DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/220120

altLabel

GLYCERATE KINASE DEFICIENCY

D-GLYCERIC ACIDEMIA

cui

C1291386

C3887877

C0342765

Gene Locus

3p21

Gene Symbol

GLYCTK1

GLYCTK

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000691

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU002761

http://purl.bioontology.org/ontology/OMIM/MTHU000958

http://purl.bioontology.org/ontology/OMIM/MTHU031908

http://purl.bioontology.org/ontology/OMIM/MTHU001720

http://purl.bioontology.org/ontology/OMIM/MTHU003333

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

http://purl.bioontology.org/ontology/OMIM/MTHU031906

http://purl.bioontology.org/ontology/OMIM/MTHU031912

http://purl.bioontology.org/ontology/OMIM/MTHU006120

http://purl.bioontology.org/ontology/OMIM/MTHU031910

http://purl.bioontology.org/ontology/OMIM/MTHU000572

http://purl.bioontology.org/ontology/OMIM/MTHU022860

http://purl.bioontology.org/ontology/OMIM/MTHU008396

http://purl.bioontology.org/ontology/OMIM/MTHU037370

http://purl.bioontology.org/ontology/OMIM/MTHU024399

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU004589

http://purl.bioontology.org/ontology/OMIM/MTHU010663

http://purl.bioontology.org/ontology/OMIM/MTHU004222

http://purl.bioontology.org/ontology/OMIM/MTHU036658

http://purl.bioontology.org/ontology/OMIM/MTHU031907

http://purl.bioontology.org/ontology/OMIM/MTHU031911

http://purl.bioontology.org/ontology/OMIM/MTHU031905

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

220120

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

D-GLYCERIC ACIDURIA

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C535767 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0111626 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E72.59 International Classification of Diseases, Version 10 - Clinical Modification CUI