MUCOPOLYSACCHARIDOSIS, TYPE IIIB

MPS3B

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

MPS3B

MPS IIIB

SANFILIPPO SYNDROME B

N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY

NAGLU DEFICIENCY

C0086648

17q21

MPS3B

CMT2V

NAGLU

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

http://purl.bioontology.org/ontology/OMIM/MTHU065384

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

http://purl.bioontology.org/ontology/OMIM/MTHU065382

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/MTHU011228

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

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

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/MTHU009982

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU065381

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU065383

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

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

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

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

Phenotype description, molecular basis known.

252920

3

pound

MUCOPOLYSACCHARIDOSIS, TYPE IIIB

Some patients have an attenuated phenotype [MISCELLANEOUS]

Onset in early childhood [MISCELLANEOUS]

Caused by mutation in the N-acetyl-alpha-D-glucosaminidase gene (NAGLU, 609701.0001) [MOLECULAR BASIS]

Four clinically indistinguishable biochemically distinct forms (see, e.g., type IIIA, 252900) [MISCELLANEOUS]

Death occurs in second or third decade [MISCELLANEOUS]

T047