Cell Line Ontology

Last uploaded: March 21, 2022
Preferred Name

mucopolysaccharidosis

Synonyms

"Mucopolysaccharidosis" EXACT [SNOMEDCT_2005_07_31:190936000]

"Mucopolysaccharidosis" EXACT [ICD9CM_2006:277.5]

"Mucopolysaccharidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:11380006]

"Mucopolysaccharidosis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:267452003]

"Mucopolysaccharidosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190942001]

"mucopolysaccharidosis" EXACT [CSP2005:1849-6106]

"Mucopolysaccharidoses" EXACT []

Definitions

"Mucopolysaccharidosis is a lysosomal storage disease described as any of a group of genetically determined disorder (as Hunter's syndrome and Hurler's syndrome) of glycosaminoglycan metabolism that are characterized by the accumulation of glycosaminoglycans in the tissues and their excretion in the urine." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis]

ID

http://purl.obolibrary.org/obo/DOID_12798

comment

"Mucopolysaccharidosis is a lysosomal storage disease described as any of a group of genetically determined disorder (as Hunter's syndrome and Hurler's syndrome) of glycosaminoglycan metabolism that are characterized by the accumulation of glycosaminoglycans in the tissues and their excretion in the urine." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis]

alternative term

"Mucopolysaccharidosis" EXACT [SNOMEDCT_2005_07_31:190936000]

"Mucopolysaccharidosis" EXACT [ICD9CM_2006:277.5]

"Mucopolysaccharidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:11380006]

"Mucopolysaccharidosis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:267452003]

"Mucopolysaccharidosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190942001]

"mucopolysaccharidosis" EXACT [CSP2005:1849-6106]

"Mucopolysaccharidoses" EXACT []

label

mucopolysaccharidosis

prefixIRI

DOID:12798

prefLabel

mucopolysaccharidosis

see also

SNOMEDCT_2010_1_31:190942001

NCI2009_04D:C61259

ICD9CM_2010:277.5

SNOMEDCT_2010_1_31:190936000

UMLS_CUI:C0026703

SNOMEDCT_2010_1_31:267452003

SNOMEDCT_2010_1_31:11380006

MSH2010_2010_02_22:D009083

URI: http://www.ebi.ac.uk/cellline#mucopolysaccharidosis

subClassOf

http://purl.obolibrary.org/obo/DOID_3211

http://purl.obolibrary.org/obo/DOID_2978

http://purl.obolibrary.org/obo/DOID_3141

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_12798 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_12798 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/DOID_12798 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_12798 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_12798 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12798 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_12798 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019249 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019249 MONDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12798 NATPRO LOOM
http://www.co-ode.org/ontologies/galen#Mucopolysaccharidosis GALEN LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/11380006 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MONDO_0019249 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucopolysaccharidosis CSEO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10028093 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_12798 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12798 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12798 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12798 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12798 FNS-H LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11239 HRDO LOOM
http://purl.bioontology.org/ontology/CSP/1849-6106 CRISP LOOM
http://purl.bioontology.org/ontology/RCD/XE11o RCD LOOM
http://purl.obolibrary.org/obo/NCIT_C61259 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61259 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0026703 OCHV LOOM
http://www.gamuts.net/entity#mucopolysaccharidosis GAMUTS LOOM
http://purl.obolibrary.org/obo/DERMO_0002677 DERMO LOOM
http://www.orpha.net/ORDO/Orphanet_79213 ORDO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Mucopolysaccharidosis PEDTERM LOOM
http://purl.bioontology.org/ontology/RCTV2/C375.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/ICD9CM/277.5 ICD9CM LOOM
http://radlex.org/RID/RID34619 RADLEX LOOM
http://purl.obolibrary.org/obo/DOID_12798 DOID LOOM

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