{"Name":"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type","DiseaseID__c":"GARD:0002022","id":2022,"encodedName":"dysplastic-cortical-hyperostosis-kozlowski-tsuruta-type","IsDeleted":false,"Disease_Name_Full__c":"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type","Xref_IDs__c":"C5780027; MEDGEN:1830504; MONDO:0100527","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0100527","Disease_Description__c":"Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.","GARD_Name__c":"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type","GARD_Synonym__c":"dysplastic cortical hyperostosis kozlowski tsuruta type; kozlowski tsuruta syndrome; kozlowski-tsuruta syndrome","Curated_Disease_Description_Source__c":"MONDO:0100527","Curated_Disease_Description__c":"An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2204","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0100527","ORPHANET_ID__c":"ORPHA:2204","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:2204","Spanish_Description__c":"La hiperostosis cortical displásica es una displasia ósea primaria muy poco frecuente con incremento de la densidad ósea. Está caracterizada por enanismo neonatal letal con hidropesía, tórax estrecho y extremidades cortas con engrosamiento cortical extenso de todos los huesos largos, costillas, clavículas y escápulas y hendidura coronal en cuerpos vertebrales.","Spanish_Disease_Name__c":null,"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":"An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.","Curated_Disease_Description_Source__c":"MONDO:0100527","GARD_Synonym__c":"dysplastic cortical hyperostosis kozlowski tsuruta type; kozlowski tsuruta syndrome; kozlowski-tsuruta syndrome","Name":"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5780027","Source__c":"C5780027","Xref__c":"C5780027"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1830504","Source__c":"C5780027","Xref__c":"MEDGEN:1830504"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100527","Source__c":"GARD:0002022","Xref__c":"MONDO:0100527"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1363583009","Source__c":"C5780027","Xref__c":"1363583009"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"]},"synonyms":["dysplastic cortical hyperostosis kozlowski tsuruta type"," kozlowski tsuruta syndrome"," kozlowski-tsuruta syndrome"]}