loading...| Preferred Name |
mucopolysaccharidosis type 1 |
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| Synonyms |
lipochondrodystrophy mucopolysaccharidosis type I MPSI Alpha-L-iduronidase deficiency mucopolysaccharidosis, type 1 mucopolysaccharidosis, MPS-I MPS1 MPS I - Hurler syndrome mucopolysaccharidosis type 1 iduronidase deficiency disease mucopolysaccharidosis I attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome) severe MPS I (subtype, also known as Hurler syndrome) Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V) MPS 1 MPS I Hurler syndrome (subtype) Hurler-Scheie syndrome (subtype) IDUA deficiency Hurler syndrome |
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| Definitions |
The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0001586 |
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| has characteristic | ||
| has_exact_synonym |
lipochondrodystrophy mucopolysaccharidosis type I MPSI Alpha-L-iduronidase deficiency mucopolysaccharidosis, type 1 mucopolysaccharidosis, MPS-I MPS1 MPS I - Hurler syndrome mucopolysaccharidosis type 1 iduronidase deficiency disease |
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| has_narrow_synonym |
Hurler syndrome |
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| has_related_synonym |
mucopolysaccharidosis I attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome) severe MPS I (subtype, also known as Hurler syndrome) Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V) MPS 1 MPS I Hurler syndrome (subtype) Hurler-Scheie syndrome (subtype) IDUA deficiency |
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| label |
mucopolysaccharidosis type 1 |
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| prefixIRI |
MONDO:0001586 |
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| prefLabel |
mucopolysaccharidosis type 1 |
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| textual definition |
The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). |
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| subClassOf |