MUCOPOLYSACCHARIDOSIS, TYPE IIIC

MPS3C

http://purl.bioontology.org/ontology/OMIM/252930

MPS3C

ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY

SANFILIPPO SYNDROME C

MPS IIIC

C0086649

8p11.1

HGSNAT

MPS3C

RP73

TMEM76

http://purl.bioontology.org/ontology/OMIM/MTHU026030

http://purl.bioontology.org/ontology/OMIM/MTHU026034

http://purl.bioontology.org/ontology/OMIM/MTHU026032

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

http://purl.bioontology.org/ontology/OMIM/MTHU002160

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/MTHU011211

http://purl.bioontology.org/ontology/OMIM/MTHU026029

http://purl.bioontology.org/ontology/OMIM/MTHU000267

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU011225

http://purl.bioontology.org/ontology/OMIM/MTHU000759

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU026033

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

http://purl.bioontology.org/ontology/OMIM/MTHU026031

http://purl.bioontology.org/ontology/OMIM/MTHU036519

http://purl.bioontology.org/ontology/OMIM/MTHU005805

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/MTHU014363

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

http://purl.bioontology.org/ontology/OMIM/MTHU028280

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

http://purl.bioontology.org/ontology/OMIM/MTHU011214

http://purl.bioontology.org/ontology/OMIM/MTHU011229

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU011224

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

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/MTHU026028

http://purl.bioontology.org/ontology/OMIM/MTHU024400

http://purl.bioontology.org/ontology/OMIM/MTHU011230

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

Phenotype description, molecular basis known.

252930

3

pound

MUCOPOLYSACCHARIDOSIS, TYPE IIIC

T047