Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

GLUTARIC ACIDEMIA I
Synonyms

GLUTARIC ACIDURIA I
ID

http://purl.bioontology.org/ontology/OMIM/231670
altLabel

GLUTARIC ACIDURIA I

GLUTARYL-CoA DEHYDROGENASE DEFICIENCY

GA I

GA1
cui

C0268595
Gene Locus

19p13.2
Gene Symbol

GCDH
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU012716

http://purl.bioontology.org/ontology/OMIM/MTHU012714

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU012711

http://purl.bioontology.org/ontology/OMIM/MTHU026111

http://purl.bioontology.org/ontology/OMIM/MTHU012713

http://purl.bioontology.org/ontology/OMIM/MTHU012721

http://purl.bioontology.org/ontology/OMIM/MTHU001903

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

http://purl.bioontology.org/ontology/OMIM/MTHU006625

http://purl.bioontology.org/ontology/OMIM/MTHU037464

http://purl.bioontology.org/ontology/OMIM/MTHU012719

http://purl.bioontology.org/ontology/OMIM/MTHU012709

http://purl.bioontology.org/ontology/OMIM/MTHU028041

http://purl.bioontology.org/ontology/OMIM/MTHU012717

http://purl.bioontology.org/ontology/OMIM/MTHU012715

http://purl.bioontology.org/ontology/OMIM/MTHU012720

http://purl.bioontology.org/ontology/OMIM/MTHU012712

http://purl.bioontology.org/ontology/OMIM/MTHU012710

http://purl.bioontology.org/ontology/OMIM/MTHU036371

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000301

http://purl.bioontology.org/ontology/OMIM/MTHU003290

http://purl.bioontology.org/ontology/OMIM/MTHU028039

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU028040

http://purl.bioontology.org/ontology/OMIM/MTHU000197
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

231670
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

GLUTARIC ACIDEMIA I
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536833 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C536833 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/LNC/LP56741-9 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/ICD10CM/E72.3 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/LNC/MTHU021574 Logical Observation Identifier Names and Codes CUI
http://purl.obolibrary.org/obo/DOID_0111254 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/LNC/LA12493-5 Logical Observation Identifier Names and Codes CUI