loading...| Preferred Name | mucopolysaccharidosis | |
| Synonyms |
"Mucopolysaccharidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:11380006] "Mucopolysaccharidoses" EXACT [] "Mucopolysaccharidosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190942001] "mucopolysaccharidosis" EXACT [CSP2005:1849-6106] "Mucopolysaccharidosis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:267452003] "Mucopolysaccharidosis" EXACT [ICD9CM_2006:277.5] "Mucopolysaccharidosis" EXACT [SNOMEDCT_2005_07_31:190936000] |
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| 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] |
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| ID |
http://purl.obolibrary.org/obo/DOID_12798 |
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| 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] |
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| alternative term |
"Mucopolysaccharidosis (disorder)" EXACT [SNOMEDCT_2005_07_31:11380006] "Mucopolysaccharidoses" EXACT [] "Mucopolysaccharidosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:190942001] "mucopolysaccharidosis" EXACT [CSP2005:1849-6106] "Mucopolysaccharidosis [Ambiguous]" EXACT [SNOMEDCT_2005_07_31:267452003] "Mucopolysaccharidosis" EXACT [ICD9CM_2006:277.5] "Mucopolysaccharidosis" EXACT [SNOMEDCT_2005_07_31:190936000] |
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| label |
mucopolysaccharidosis |
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| prefixIRI |
DOID:12798 |
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| prefLabel |
mucopolysaccharidosis |
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| see also |
URI: http://www.ebi.ac.uk/cellline#mucopolysaccharidosis SNOMEDCT_2010_1_31:190936000 UMLS_CUI:C0026703 SNOMEDCT_2010_1_31:11380006 MSH2010_2010_02_22:D009083 NCI2009_04D:C61259 SNOMEDCT_2010_1_31:190942001 SNOMEDCT_2010_1_31:267452003 ICD9CM_2010:277.5 |
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| subClassOf |
http://purl.obolibrary.org/obo/DOID_3211 |