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DO Term : mucopolysaccharidosis I [DOID:12802] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.

synonyms:
Mucopolysaccharidosis, type 1,
UMLS_CUI:C0023786,
Lipochondrodystrophy,
Hurler syndrome,
NCI:C85053,
GARD:10335,
SNOMEDCT_US_2023_03_01:267453008,
iduronidase deficiency disease,
ICD10CM:E76.0,
MPS I - Hurler syndrome,
Hurler-Scheie syndrome,
MESH:D008059,
Mucopolysaccharidosis, MPS-I

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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