Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/176871.0006 http://purl.bioontology.org/ontology/OMIM/176871.0006
Preferred Name	EIF2AK2, GLY130ARG, 388G-A
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	EIF2AK2, GLY130ARG, 388G-A
notation	176871.0006
Has phenotype	http://purl.bioontology.org/ontology/OMIM/176871
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T028
Allelic variant of	http://purl.bioontology.org/ontology/OMIM/176871
type	http://www.w3.org/2002/07/owl#Class
tui	T028
cui	C5562871

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