{"Name":"Mucopolysaccharidosis, MPS-I-H/S","DiseaseID__c":"GARD:0012560","id":12560,"encodedName":"mucopolysaccharidosis-mps-i-hs","IsDeleted":false,"Disease_Name_Full__c":"Mucopolysaccharidosis, MPS-I-H/S","Xref_IDs__c":"26745009; C0086431; C122782; DOID:0111389; E76.02; MEDGEN:88566; MONDO:0011759; OMIM:607015; ORPHA:93476","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011759","Disease_Description__c":"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.","GARD_Name__c":"Mucopolysaccharidosis, MPS-I-H/S","GARD_Synonym__c":"hurler-scheie disease mps type 1h/s; hurler-scheie syndrome; l-iduronidase deficiency, hurler-scheie type; mps i h-s; mps1h/s; mpsih/s; mucopolysaccharidosis type 1h/s; mucopolysaccharidosis type i-h/s; mucopolysaccharidosis type ih/s","Curated_Disease_Description_Source__c":"MONDO:0011759","Curated_Disease_Description__c":"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93476","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011759","ORPHANET_ID__c":"ORPHA:93476","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hurler-scheie","Spanish_Description_Source__c":"ORPHA:93476","Spanish_Description__c":"El síndrome de Hurler-Scheie es la forma de gravedad intermedia de la mucopolisacaridosis tipo 1 (MPS 1; ver término), situada entre los dos extremos, el síndrome de Hurler y el de Scheie; es una enfermedad rara por almacenamiento lisosomal, caracterizada por anomalías esqueléticas y retraso en el desarrollo motor.","Spanish_Disease_Name__c":"síndrome de hurler-scheie","Spanish_GARD_Synonym__c":"mps1h/s; mpsih/s; mucopolisacaridosis tipo 1h/s; mucopolisacaridosis tipo ih/s","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.","Curated_Disease_Description_Source__c":"MONDO:0011759","GARD_Synonym__c":"hurler-scheie disease mps type 1h/s; hurler-scheie syndrome; l-iduronidase deficiency, hurler-scheie type; 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MONDO:0011759","Xref__c":"26745009"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C122782","Source__c":"C0086431; MONDO:0011759","Xref__c":"C122782"},{"URL__c":"https://www.orpha.net/en/disease/detail/93476","Source__c":"C0086431; MONDO:0011759; ORPHA:93476","Xref__c":"ORPHA:93476"},{"URL__c":"https://www.omim.org/entry/607015","Source__c":"C0086431; MONDO:0011759; ORPHA:93476","Xref__c":"OMIM:607015"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=88566","Source__c":"C0086431","Xref__c":"MEDGEN:88566"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111389","Source__c":"MONDO:0011759","Xref__c":"DOID:0111389"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E76.02","Source__c":"MONDO:0011759","Xref__c":"E76.02"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011759","Source__c":"GARD:0012560","Xref__c":"MONDO:0011759"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IDUA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/idua","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; 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Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"Specialist":["Genetics","Cardiology","Neurology","Ophthalmology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"Account":["Lysosomal","Craniofacial Anomalies","Cardiomyopathy","Glaucoma"]},"synonyms":["hurler-scheie disease mps type 1h/s"," hurler-scheie syndrome"," l-iduronidase deficiency, hurler-scheie type"," mps i h-s"," mps1h/s"," mpsih/s"," mucopolysaccharidosis type 1h/s"," mucopolysaccharidosis type i-h/s"," mucopolysaccharidosis type ih/s"]}