ASPARTYLGLUCOSAMINURIA

ASPARTYLGLUCOSAMINIDASE DEFICIENCY

http://purl.bioontology.org/ontology/OMIM/208400

ASPARTYLGLUCOSAMINIDASE DEFICIENCY

ASPARTYLGLYCOSAMINURIA

GLYCOSYLASPARAGINASE DEFICIENCY

AGU

GLYCOASPARAGINASE

AGA DEFICIENCY

C0268225

C2931840

4q32-q33

AGA

http://purl.bioontology.org/ontology/OMIM/MTHU014364

http://purl.bioontology.org/ontology/OMIM/MTHU004747

http://purl.bioontology.org/ontology/OMIM/MTHU001686

http://purl.bioontology.org/ontology/OMIM/MTHU001048

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

http://purl.bioontology.org/ontology/OMIM/MTHU005751

http://purl.bioontology.org/ontology/OMIM/MTHU003860

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU014361

http://purl.bioontology.org/ontology/OMIM/MTHU000260

http://purl.bioontology.org/ontology/OMIM/MTHU014367

http://purl.bioontology.org/ontology/OMIM/MTHU009825

http://purl.bioontology.org/ontology/OMIM/MTHU002014

http://purl.bioontology.org/ontology/OMIM/MTHU002002

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

http://purl.bioontology.org/ontology/OMIM/MTHU007956

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU014365

http://purl.bioontology.org/ontology/OMIM/MTHU036367

http://purl.bioontology.org/ontology/OMIM/MTHU014369

http://purl.bioontology.org/ontology/OMIM/MTHU014363

http://purl.bioontology.org/ontology/OMIM/MTHU001349

http://purl.bioontology.org/ontology/OMIM/MTHU000068

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

http://purl.bioontology.org/ontology/OMIM/MTHU014370

http://purl.bioontology.org/ontology/OMIM/MTHU036588

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU010294

http://purl.bioontology.org/ontology/OMIM/MTHU000300

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

http://purl.bioontology.org/ontology/OMIM/MTHU036340

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

http://purl.bioontology.org/ontology/OMIM/MTHU001148

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU008142

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU000268

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU014362

http://purl.bioontology.org/ontology/OMIM/MTHU014368

http://purl.bioontology.org/ontology/OMIM/MTHU036364

http://purl.bioontology.org/ontology/OMIM/MTHU014366

http://purl.bioontology.org/ontology/OMIM/MTHU036937

Phenotype description, molecular basis known.

208400

3

pound

ASPARTYLGLUCOSAMINURIA

Caused by mutation in the aspartylglucosaminidase gene (AGA, 613228.0001) [MOLECULAR BASIS]

Carrier frequency in Finland 1/40 [MISCELLANEOUS]

Onset of symptoms 2-6 years of age [MISCELLANEOUS]

Increased frequency in the Finnish population [MISCELLANEOUS]

98% of Finnish cases due to one mutation [MISCELLANEOUS]

T047