Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	MUCOPOLYSACCHARIDOSIS, TYPE VII
Synonyms	BETA-GLUCURONIDASE DEFICIENCY GUSB DEFICIENCY MPS7 SLY SYNDROME MPS VII
ID	http://purl.bioontology.org/ontology/OMIM/253220
altLabel	BETA-GLUCURONIDASE DEFICIENCY GUSB DEFICIENCY MPS7 SLY SYNDROME MPS VII
cui	C0085132
Gene Locus	7q21.11
Gene Symbol	GUSB MPS7
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU010734 http://purl.bioontology.org/ontology/OMIM/MTHU011151 http://purl.bioontology.org/ontology/OMIM/MTHU036368 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU042787 http://purl.bioontology.org/ontology/OMIM/MTHU001954 http://purl.bioontology.org/ontology/OMIM/MTHU022143 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU008643 http://purl.bioontology.org/ontology/OMIM/MTHU011160 http://purl.bioontology.org/ontology/OMIM/MTHU011152 http://purl.bioontology.org/ontology/OMIM/MTHU036369 http://purl.bioontology.org/ontology/OMIM/MTHU007190 http://purl.bioontology.org/ontology/OMIM/MTHU011156 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU002499 http://purl.bioontology.org/ontology/OMIM/MTHU011139 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU007383 http://purl.bioontology.org/ontology/OMIM/MTHU007185 http://purl.bioontology.org/ontology/OMIM/MTHU001106 http://purl.bioontology.org/ontology/OMIM/MTHU011155 http://purl.bioontology.org/ontology/OMIM/MTHU036362 http://purl.bioontology.org/ontology/OMIM/MTHU009460 http://purl.bioontology.org/ontology/OMIM/MTHU008348 http://purl.bioontology.org/ontology/OMIM/MTHU001153 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU008535 http://purl.bioontology.org/ontology/OMIM/MTHU011159 http://purl.bioontology.org/ontology/OMIM/MTHU008694 http://purl.bioontology.org/ontology/OMIM/MTHU011158 http://purl.bioontology.org/ontology/OMIM/MTHU011154 http://purl.bioontology.org/ontology/OMIM/MTHU011787 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU036366 http://purl.bioontology.org/ontology/OMIM/MTHU000680 http://purl.bioontology.org/ontology/OMIM/MTHU007187 http://purl.bioontology.org/ontology/OMIM/MTHU011157 http://purl.bioontology.org/ontology/OMIM/MTHU002374 http://purl.bioontology.org/ontology/OMIM/MTHU000260 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU003440 http://purl.bioontology.org/ontology/OMIM/MTHU000585 http://purl.bioontology.org/ontology/OMIM/MTHU002378 http://purl.bioontology.org/ontology/OMIM/MTHU058419
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	253220
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MUCOPOLYSACCHARIDOSIS, TYPE VII
Scope Statement	Caused by mutation in the beta-glucuronidase gene (GUSB, 611499.0001) [MOLECULAR BASIS] Wide spectrum of severity [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D016538	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/43916004	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D6-70260	SNMI	CUI
http://purl.bioontology.org/ontology/MDRFRE/10056893	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/43916004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10056921	MDRFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D016538	MSHFRE	CUI
http://purl.bioontology.org/ontology/CSP/1849-6106	CRISP	CUI
http://purl.bioontology.org/ontology/ICD10CM/E76.29	ICD10CM	CUI
http://purl.bioontology.org/ontology/MDRGER/10056893	MDRGER	CUI
http://purl.bioontology.org/ontology/CSP/4001-0049	CRISP	CUI
http://purl.bioontology.org/ontology/RCD/C3757	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124470009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/124470009	SCTSPA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003433	NDFRT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10056921	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10056893	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10056921	MDRGER	CUI
http://purl.bioontology.org/ontology/RCTV2/C375700	RCTV2	LOOM
http://nanbyodata.jp/ontology/NANDO_2200552	NANDO	LOOM
http://purl.bioontology.org/ontology/RCD/C3757	RCD	LOOM