Metadata | |
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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 |
SNOMEDCT_US_2023_03_01:65327002 |
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 |