Preferred Name

Deficiency of N-acetylglucosamine-1-phosphotransferase

ID

http://purl.bioontology.org/ontology/OMIM/MTHU011301

cui

C0020725

Manifestation of

http://purl.bioontology.org/ontology/OMIM/252500

http://purl.bioontology.org/ontology/OMIM/252600

notation

MTHU011301

prefLabel

Deficiency of N-acetylglucosamine-1-phosphotransferase

tui

T047

subClassOf

http://purl.bioontology.org/ontology/OMIM/MTHU000012

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http://purl.bioontology.org/ontology/MESH/D009081 Medical Subject Headings / 医学主题词表 CUI
http://purl.obolibrary.org/obo/HP_0003264 Human Phenotype Ontology / 人类表型本体 LOOM