Preferred Name

Mucopolysaccharidosis Type I

Synonyms
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).

ID

http://purl.obolibrary.org/obo/NCIT_C85053

code

C85053

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).

label

Mucopolysaccharidosis Type I

Preferred_Name

Mucopolysaccharidosis Type I

prefixIRI

NCIT:C85053

prefLabel

Mucopolysaccharidosis Type I

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0023786

subClassOf

http://purl.obolibrary.org/obo/NCIT_C61259

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