SCHEIE SYNDROME

MPS V, FORMERLY

http://purl.bioontology.org/ontology/OMIM/607016

MPS V, FORMERLY

MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY

MPS1-S

MUCOPOLYSACCHARIDOSIS TYPE IS

MPS5, FORMERLY

C0026708

4p16.3

IDA

IDUA

http://purl.bioontology.org/ontology/OMIM/MTHU036368

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

http://purl.bioontology.org/ontology/OMIM/MTHU001469

http://purl.bioontology.org/ontology/OMIM/MTHU020569

http://purl.bioontology.org/ontology/OMIM/MTHU023165

http://purl.bioontology.org/ontology/OMIM/MTHU042813

http://purl.bioontology.org/ontology/OMIM/MTHU042827

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU042823

http://purl.bioontology.org/ontology/OMIM/MTHU001467

http://purl.bioontology.org/ontology/OMIM/MTHU001946

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

http://purl.bioontology.org/ontology/OMIM/MTHU001542

http://purl.bioontology.org/ontology/OMIM/MTHU042825

http://purl.bioontology.org/ontology/OMIM/MTHU001441

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

http://purl.bioontology.org/ontology/OMIM/MTHU004117

http://purl.bioontology.org/ontology/OMIM/MTHU042826

http://purl.bioontology.org/ontology/OMIM/MTHU042814

http://purl.bioontology.org/ontology/OMIM/MTHU011164

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU004856

http://purl.bioontology.org/ontology/OMIM/MTHU005783

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

http://purl.bioontology.org/ontology/OMIM/MTHU042810

Phenotype description, molecular basis known.

252700

607016

3

pound

SCHEIE SYNDROME

Caused by mutation in the alpha-L-iduronidase gene (IDUA, 252800.0004) [MOLECULAR BASIS]

Diagnosis typically between age 10-20 years [MISCELLANEOUS]

MPS1 types are distinguished clinically by age of onset and progression or by mutation(s) [MISCELLANEOUS]

Onset of symptoms after age 5 [MISCELLANEOUS]

Alpha-L-iduronidase activity is <1% for all forms of MPS1 [MISCELLANEOUS]

T047