Medical Subject Headings

Last uploaded: November 5, 2019
Preferred Name

Mucopolysaccharidosis VII

Synonyms

Mucopolysaccharidosis 7

Definitions

Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.

ID

http://purl.bioontology.org/ontology/MESH/D016538

altLabel

Mucopolysaccharidosis 7

Sly Disease

GUSB Deficiencies

beta Glucuronidase Deficiency

Disease, Sly

Deficiencies, GUSB

Deficiency, GUSB

Type VIIs, Mucopolysaccharidosis

GUSB Deficiency

beta-Glucuronidase Deficiencies

Type VII, Mucopolysaccharidosis

Deficiency, beta-Glucuronidase

VIIs, Mucopolysaccharidosis

Syndrome, Sly

Mucopolysaccharidosis Type VIIs

beta-Glucuronidase Deficiency

Deficiencies, beta-Glucuronidase

Mucopolysaccharidosis VIIs

Mucopolysaccharidosis Type VII

Sly Syndrome

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0085132

DC

1

definition

Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.

DX

19920101

HN

92

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D009085

http://purl.bioontology.org/ontology/MESH/D009084

http://purl.bioontology.org/ontology/MESH/D009087

http://purl.bioontology.org/ontology/MESH/D016532

http://purl.bioontology.org/ontology/MESH/D008059

Machine permutation

92

MDA

19910621

MMR

20130708

MN

C16.320.565.595.600.675

C17.300.550.575.675

C18.452.648.595.600.675

C18.452.648.202.715.675

C16.320.565.202.715.675

notation

D016538

prefLabel

Mucopolysaccharidosis VII

TERMUI

T049489

T819012

T049487

T819011

T819013

T049488

T049486

TH

NLM (2013)

NLM (1992)

OMIM (2013)

GHR (2014)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D009083

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http://purl.bioontology.org/ontology/OMIM/253220 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/611499 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/ICD10CM/E76.29 International Classification of Diseases, Version 10 - Clinical Modification CUI