Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/609712.0001 http://purl.bioontology.org/ontology/OMIM/609712.0001
Preferred Name	PKLR, 1-BP DEL
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	PKLR, 1-BP DEL
notation	609712.0001
Has phenotype	http://purl.bioontology.org/ontology/OMIM/609712
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T028
Allelic variant of	http://purl.bioontology.org/ontology/OMIM/609712
type	http://www.w3.org/2002/07/owl#Class
tui	T028
cui	C1857863

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