| Metadata | |
|---|---|
| ID | DOID:0111389 |
| Name | mucopolysaccharidosis Ih/s |
| Definition | A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction 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/10466419, https://www.ncbi.nlm.nih.gov/pubmed/7550242, https://www.ncbi.nlm.nih.gov/pubmed/2128891 |
| Xrefs |
SNOMEDCT_US_2023_03_01:26745009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
MPS1H/S [EXACT] MPSIH/S [EXACT] Mucopolysaccharidosis type 1H/S [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some short stature has symptom some hepatosplenomegaly has symptom some cloudy cornea has material basis in some autosomal recessive inheritance disease has feature some umbilical hernia |