RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 IDUA on chromosome 4p16.3. (DO)
Synonyms:
exact_synonym:
DYSOSTOSIS MULTIPLEX; Dysostosis multiplex syndrome; Gargoylism; Gargoylisms; Hurler Disease; Hurler Syndrome; Hurler Syndrome Gargoylism; Hurler disease MPS type 1H; Hurler's Disease; Hurler's Syndrome; L-iduronidase deficiency, Hurler type; MPS I - Hurler syndrome; MPS1-H; Mucopolysaccharidosis Type Ih; Mucopolysaccharidosis type I severe form; Pfaundler-Hurler Syndrome
ClinVar Annotator: match by term: Dysostosis multiplex ClinVar Annotator: match by term: Hurler syndrome ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome
ClinVar Annotator: match by term: Dysostosis multiplex ClinVar Annotator: match by term: Hurler syndrome ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome