MUCOPOLYSACCHARIDOSIS, TYPE IIID

MPS IIID

http://purl.bioontology.org/ontology/OMIM/252940

MPS IIID

SANFILIPPO SYNDROME D

N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY

MPS3D

C0086650

12q14

G6S

GNS

http://purl.bioontology.org/ontology/OMIM/MTHU004092

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU007266

http://purl.bioontology.org/ontology/OMIM/MTHU008360

http://purl.bioontology.org/ontology/OMIM/MTHU011201

http://purl.bioontology.org/ontology/OMIM/MTHU001623

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

http://purl.bioontology.org/ontology/OMIM/MTHU001062

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

http://purl.bioontology.org/ontology/OMIM/MTHU065388

http://purl.bioontology.org/ontology/OMIM/MTHU011211

http://purl.bioontology.org/ontology/OMIM/MTHU012891

http://purl.bioontology.org/ontology/OMIM/MTHU011221

http://purl.bioontology.org/ontology/OMIM/MTHU036357

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

http://purl.bioontology.org/ontology/OMIM/MTHU000680

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

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU001746

http://purl.bioontology.org/ontology/OMIM/MTHU019543

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU004559

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

http://purl.bioontology.org/ontology/OMIM/MTHU009982

http://purl.bioontology.org/ontology/OMIM/MTHU003667

http://purl.bioontology.org/ontology/OMIM/MTHU011219

http://purl.bioontology.org/ontology/OMIM/MTHU065387

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU001853

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

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/MTHU011220

Phenotype description, molecular basis known.

252940

3

pound

MUCOPOLYSACCHARIDOSIS, TYPE IIID

Caused by mutation in the N-acetylglucosamine-6-sulfatase gene (GNS, 607664.0001) [MOLECULAR BASIS]

Progressive disorder [MISCELLANEOUS]

Four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) [MISCELLANEOUS]

T047