Systematized Nomenclature of Medicine, International Version

Last uploaded: January 31, 2024

Preferred Name	I-cell disease
Synonyms	Mucolipidosis II
ID	http://purl.bioontology.org/ontology/SNMI/D6-72200
altLabel	Mucolipidosis II N-acetylglucosamine-1-phosphotransferase deficiency
Associated with	http://purl.bioontology.org/ontology/SNMI/M-27000 http://purl.bioontology.org/ontology/SNMI/F-69688
cui	C0020725
notation	D6-72200
prefLabel	I-cell disease
SIC	272.7
SMX	(M-27000) (F-69688)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/SNMI/D6-70000

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10072928	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/70199000	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/252500	OMIM	CUI
http://purl.bioontology.org/ontology/MESH/D009081	MESH	CUI
http://purl.bioontology.org/ontology/RCD/X40W9	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D009081	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/X40WA	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/70199000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU011301	OMIM	CUI
http://purl.bioontology.org/ontology/CSP/1849-6277	CRISP	CUI
http://purl.bioontology.org/ontology/MDRFRE/10072928	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10072928	MEDDRA	CUI
http://sbmi.uth.tmc.edu/ontology/ochv#C0020725	OCHV	LOOM
http://purl.jp/bio/4/id/200906035987131297	IOBC	LOOM
http://purl.obolibrary.org/obo/NCIT_C61270	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#I-Cell_Disease	CSEO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6516	OCHV	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/70199000	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/CSP/1849-6277	CRISP	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61270	NCIT	LOOM
http://purl.jp/bio/4/id/200906084107795915	IOBC	LOOM