{"Name":"Craniodiaphyseal dysplasia, autosomal dominant","DiseaseID__c":"GARD:0000249","id":249,"encodedName":"craniodiaphyseal-dysplasia-autosomal-dominant","IsDeleted":false,"Disease_Name_Full__c":"Craniodiaphyseal dysplasia, autosomal dominant","Xref_IDs__c":"C2675746; C567275; DOID:0080807; MEDGEN:382678; MONDO:0021021","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:122860","Disease_Description__c":"Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by {2:Brueton and Winter, 1990}). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by {4:Kim et al., 2011}).","GARD_Name__c":"Craniodiaphyseal dysplasia, autosomal dominant","GARD_Synonym__c":"cdd","Curated_Disease_Description_Source__c":"MEDGEN:C0410539","Curated_Disease_Description__c":"An autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the SOST gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion is referred to as 'leontiasis ossea'; the bone deposition results in progressive stenosis of craniofacial foramina and can lead to severe neurologic impairment in childhood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:122860","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0021021","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the SOST gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion is referred to as 'leontiasis ossea'; the bone deposition results in progressive stenosis of craniofacial foramina and can lead to severe neurologic impairment in childhood.","Curated_Disease_Description_Source__c":"MEDGEN:C0410539","GARD_Synonym__c":"cdd","Name":"Craniodiaphyseal dysplasia, autosomal dominant","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"European Reference Network on Bone Disorders","Website__c":"https://ernbond.eu/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000249","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567275","Source__c":"MONDO:0021021","Xref__c":"C567275"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080807","Source__c":"MONDO:0021021","Xref__c":"DOID:0080807"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2675746","Source__c":"C2675746","Xref__c":"C2675746"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=382678","Source__c":"C2675746","Xref__c":"MEDGEN:382678"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0021021","Source__c":"GARD:0000249","Xref__c":"MONDO:0021021"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SOST","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sost","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{},"synonyms":["cdd"]}