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mucopolysaccharidosis Ih

Go to external page http://purl.obolibrary.org/obo/DOID_0111390

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. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/7550242 url:https://www.ncbi.nlm.nih.gov/pubmed/3124802 ]

Synonyms: Hurler disease MPS type 1H dysostosis multiplex Mucopolysaccharidosis type I severe form Dysostosis multiplex syndrome gargoylism L-iduronidase deficiency, Hurler type Hurler-Pfaundler syndrome MPS1-H

This is just here as a test because I lose it

Term information

database cross reference
  • NCI:C61261
  • GARD:12559
  • MIM:607014
  • SNOMEDCT_US_2023_03_01:65327002
  • ORDO:93473
  • ICD10CM:E76.01
  • UMLS_CUI:C0086795
  • MESH:D008059
Subsets

DO_rare_slim, NCIthesaurus

acronym
MPS1-H

has obo namespace

disease_ontology

id

DOID:0111390