FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

galactokinase deficiency
Synonyms
Definitions

A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
ID

http://purl.obolibrary.org/obo/DOID_14695
definition

A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

galactokinase deficiency
prefixIRI

DOID:14695
prefLabel

galactokinase deficiency
subClassOf

http://purl.obolibrary.org/obo/DOID_9870
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http://purl.obolibrary.org/obo/DOID_14695 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14695 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_14695 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_14695 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14695 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009255 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009255 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_14695 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200533 NANDO LOOM
http://purl.jp/bio/4/id/200906068510046137 IOBC LOOM
http://purl.obolibrary.org/obo/NCIT_C114767 BERO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11263 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_79237 ORDO LOOM
http://purl.bioontology.org/ontology/RCTV2/C311100 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/C3111 RCD LOOM
http://purl.obolibrary.org/obo/DOID_14695 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14695 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14695 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14695 NIFSTD LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14695 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268155 OCHV LOOM
http://purl.bioontology.org/ontology/LNC/LA12542-9 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/LP56782-3 LOINC LOOM
http://purl.obolibrary.org/obo/MONDO_0009255 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0009255 KTAO LOOM
http://www.gamuts.net/entity#galactokinase_deficiency GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C114767 NCIT LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021612 LOINC LOOM