mucopolysaccharidosis I

mucopolysaccharidosis I

http://purl.obolibrary.org/obo/DOID_12802

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. [ http://purl.obolibrary.org/obo/ECO_0007638 url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I ]

Synonyms: Hurler syndrome MPS I - Hurler syndrome iduronidase deficiency disease Mucopolysaccharidosis, type 1 Mucopolysaccharidosis, MPS-I Hurler-Scheie syndrome Lipochondrodystrophy

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This is just here as a test because I lose it

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database cross reference

GARD:10335
UMLS_CUI:C0023786
NCI:C85053
SNOMEDCT_US_2023_03_01:267453008
ICD10CM:E76.0
MESH:D008059

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DO_rare_slim, NCIthesaurus

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disease_ontology

DOID:12802

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Subclass of:

mucopolysaccharidosis