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Metadata
ID DOID:0111390
Name mucopolysaccharidosis Ih
Definition A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
https://www.ncbi.nlm.nih.gov/pubmed/3124802, https://www.ncbi.nlm.nih.gov/pubmed/7550242
Xrefs

GARD:12559

ICD10CM:E76.01

MESH:D008059

MIM:607014

NCI:C61261

ORDO:93473

SNOMEDCT_US_2023_03_01:65327002

UMLS_CUI:C0086795

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

dysostosis multiplex [EXACT]

Dysostosis multiplex syndrome [EXACT]

gargoylism [EXACT]

Hurler disease MPS type 1H [EXACT]

Hurler-Pfaundler syndrome [EXACT]

L-iduronidase deficiency, Hurler type [EXACT]

MPS1-H [EXACT]

Mucopolysaccharidosis type I severe form [EXACT]

Parent Relationships

is_a mucopolysaccharidosis I

is_a autosomal recessive disease

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