{"Name":"Mixed sclerosing bone dystrophy with extra-skeletal manifestations","DiseaseID__c":"GARD:0021439","id":21439,"encodedName":"mixed-sclerosing-bone-dystrophy-with-extra-skeletal-manifestations","IsDeleted":false,"Disease_Name_Full__c":"Mixed sclerosing bone dystrophy with extra-skeletal manifestations","Xref_IDs__c":"C5191052; MEDGEN:1676501; MONDO:0017930; ORPHA:324364","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:324364","Disease_Description__c":"A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated.","GARD_Name__c":"Mixed sclerosing bone dystrophy with extra-skeletal manifestations","GARD_Synonym__c":"mixed sclerosing bone dystrophy with extra-skeletal manifestation","Curated_Disease_Description_Source__c":"ORPHA:324364","Curated_Disease_Description__c":"A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:324364","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017930","ORPHANET_ID__c":"ORPHA:324364","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia ósea esclerosante mixta con manifestaciones extraesqueléticas","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"distrofia ósea esclerosante mixta con manifestaciones extraesqueléticas","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","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":"A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated.","Curated_Disease_Description_Source__c":"ORPHA:324364","GARD_Synonym__c":"mixed sclerosing bone dystrophy with extra-skeletal manifestation","Name":"Mixed sclerosing bone dystrophy with extra-skeletal manifestations","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:324364"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5191052","Source__c":"C5191052","Xref__c":"C5191052"},{"URL__c":"https://www.orpha.net/en/disease/detail/324364","Source__c":"MONDO:0017930","Xref__c":"ORPHA:324364"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1676501","Source__c":"C5191052","Xref__c":"MEDGEN:1676501"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017930","Source__c":"GARD:0021439","Xref__c":"MONDO:0017930"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783723003","Source__c":"C5191052","Xref__c":"783723003"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["mixed sclerosing bone dystrophy with extra-skeletal manifestation"]}