Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

MUCOPOLYSACCHARIDOSIS, TYPE IIIB
Synonyms

MPS3B
ID

http://purl.bioontology.org/ontology/OMIM/252920
altLabel

MPS3B

MPS IIIB

SANFILIPPO SYNDROME B

N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY

NAGLU DEFICIENCY
cui

C0086648
Gene Locus

17q21
Gene Symbol

MPS3B

CMT2V

NAGLU
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU028279

http://purl.bioontology.org/ontology/OMIM/MTHU000253

http://purl.bioontology.org/ontology/OMIM/MTHU005320

http://purl.bioontology.org/ontology/OMIM/MTHU011215

http://purl.bioontology.org/ontology/OMIM/MTHU011218

http://purl.bioontology.org/ontology/OMIM/MTHU011213

http://purl.bioontology.org/ontology/OMIM/MTHU037057

http://purl.bioontology.org/ontology/OMIM/MTHU011183

http://purl.bioontology.org/ontology/OMIM/MTHU011233

http://purl.bioontology.org/ontology/OMIM/MTHU011228

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU011237

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU028278

http://purl.bioontology.org/ontology/OMIM/MTHU001944

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU023163

http://purl.bioontology.org/ontology/OMIM/MTHU036369

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU036393

http://purl.bioontology.org/ontology/OMIM/MTHU011217

http://purl.bioontology.org/ontology/OMIM/MTHU005321

http://purl.bioontology.org/ontology/OMIM/MTHU011222

http://purl.bioontology.org/ontology/OMIM/MTHU000248

http://purl.bioontology.org/ontology/OMIM/MTHU011227

http://purl.bioontology.org/ontology/OMIM/MTHU004146

http://purl.bioontology.org/ontology/OMIM/MTHU011210

http://purl.bioontology.org/ontology/OMIM/MTHU011236

http://purl.bioontology.org/ontology/OMIM/MTHU011234

http://purl.bioontology.org/ontology/OMIM/MTHU011232

http://purl.bioontology.org/ontology/OMIM/MTHU011220
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

252920
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MUCOPOLYSACCHARIDOSIS, TYPE IIIB
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/E76.22 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D009084 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0111394 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84898 National Cancer Institute Thesaurus LOOM