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loading...| Preferred Name |
mucopolysaccharidosis I |
|
| Synonyms |
Lipochondrodystrophy MPS I - Hurler syndrome |
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| Definitions |
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. |
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| ID |
http://purl.obolibrary.org/obo/DOID_12802 |
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| database_cross_reference |
MESH:D008059 UMLS_CUI:C0023786 ICD10CM:E76.0 SNOMEDCT_US_2023_03_01:267453008 GARD:10335 NCI:C85053 |
|
| definition |
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. |
|
| has exact synonym |
Lipochondrodystrophy Hurler syndrome iduronidase deficiency disease Mucopolysaccharidosis, MPS-I Hurler-Scheie syndrome Mucopolysaccharidosis, type 1 MPS I - Hurler syndrome |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:12802 |
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| in_subset | ||
| label |
mucopolysaccharidosis I |
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| notation |
DOID:12802 |
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| prefLabel |
mucopolysaccharidosis I |
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| subClassOf |
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