MUCOPOLYSACCHARIDOSIS, TYPE IIIA

SULFAMIDASE DEFICIENCY

http://purl.bioontology.org/ontology/OMIM/252900

SULFAMIDASE DEFICIENCY

MPS3A

HEPARAN SULFATE SULFATASE DEFICIENCY

MPS IIIA

SANFILIPPO SYNDROME A

C0086647

17q25.3

MPS3A

SGSH

SFMD

http://purl.bioontology.org/ontology/OMIM/MTHU065379

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

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

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/MTHU065380

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/MTHU011241

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/MTHU011214

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU011239

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/MTHU011220

Phenotype description, molecular basis known.

252900

3

pound

MUCOPOLYSACCHARIDOSIS, TYPE IIIA

Caused by mutations in the heparan sulfate sulfatase gene (SGSH, 605270.0001) [MOLECULAR BASIS]

Four clinically indistinguishable biochemically distinct forms [MISCELLANEOUS]

T047