Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/MTHU006129 http://purl.bioontology.org/ontology/OMIM/MTHU006129
Preferred Name	Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase deficiency
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase deficiency
type	http://www.w3.org/2002/07/owl#Class
tui	T033
Manifestation of	http://purl.bioontology.org/ontology/OMIM/601110
notation	MTHU006129
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T033
cui	C1832743
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000012

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