Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	UDP-GALACTOSE-4-EPIMERASE
Synonyms	GALACTOSEMIA III, SEVERE
ID	http://purl.bioontology.org/ontology/OMIM/606953
altLabel	GALACTOSEMIA III, SEVERE GALACTOSEMIA III GALE GALACTOSE EPIMERASE
cui	C4017048 C1439333 C0751161
Gene Locus	1p36-p35
Gene Symbol	GALE
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/606953.0005 http://purl.bioontology.org/ontology/OMIM/606953.0003 http://purl.bioontology.org/ontology/OMIM/606953.0006 http://purl.bioontology.org/ontology/OMIM/606953.0007 http://purl.bioontology.org/ontology/OMIM/606953.0008 http://purl.bioontology.org/ontology/OMIM/606953.0004 http://purl.bioontology.org/ontology/OMIM/606953.0001 http://purl.bioontology.org/ontology/OMIM/606953.0002
MIMTYPEMEANING	Gene with known sequence
notation	606953
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	UDP-GALACTOSE-4-EPIMERASE
tui	T047 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D005693	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D6-50530	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/8849004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D005693	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/8849004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X40TR	RCD	CUI
http://purl.bioontology.org/ontology/LNC/LP56783-1	LOINC	CUI
http://purl.bioontology.org/ontology/LNC/LA12541-1	LOINC	CUI
http://purl.bioontology.org/ontology/LNC/MTHU021613	LOINC	CUI
http://purl.obolibrary.org/obo/dinto_3684	DINTO	LOOM
http://www.orpha.net/ORDO/Orphanet_121997	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16093	HRDO	LOOM