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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607016
http://purl.bioontology.org/ontology/OMIM/607016
|
|---|---|
| Preferred Name | SCHEIE SYNDROME |
| Synonyms |
MPS V, FORMERLY
MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY
MPS1-S
MUCOPOLYSACCHARIDOSIS TYPE IS
MPS5, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MPS V, FORMERLY
MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY
MPS1-S
MUCOPOLYSACCHARIDOSIS TYPE IS
MPS5, FORMERLY
|
|---|---|
| prefLabel | SCHEIE SYNDROME
|
| Gene Symbol |
IDA
IDUA
|
| Scope Statement | 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]
|
| type | |
| Has manifestation |
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|
| tui | T047
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| Gene Locus | 4p16.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607016
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0026708
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| Moved from | 252700
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |