| 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 |
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 | |
| Subclass Logical Relationships |
has symptom some hepatosplenomegaly has phenotype some Coarse facial features has phenotype some Cognitive impairment has material basis in some autosomal recessive inheritance |