{"Name":"Cleidocranial dysplasia, recessive form","DiseaseID__c":"GARD:0010623","id":10623,"encodedName":"cleidocranial-dysplasia-recessive-form","IsDeleted":false,"Disease_Name_Full__c":"Cleidocranial dysplasia, recessive form","Xref_IDs__c":"C1859080; C565843; MEDGEN:395170; MONDO:0008994; OMIM:216330","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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:216330","Disease_Description__c":"{1:Goodman et al. (1975)} described 2 families in which offspring of unaffected consanguineous parents had a particularly severe form of cleidocranial dysplasia. Spinal anomalies were present and the affected persons were dwarfed.","GARD_Name__c":"Cleidocranial dysplasia, recessive form","GARD_Synonym__c":"autosomal recessive form of cleidocranial dysostosis","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Cleidocranial dysplasia, recessive form is a rare genetic condition that affects the bones in the body. This severe form of cleidocranial dysplasia can cause a person to be shorter than average. Other symptoms may include absent collarbones, flattened skull, and problems with the spine.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:216330","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008994","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":"Cleidocranial dysplasia, recessive form is a rare genetic condition that affects the bones in the body. This severe form of cleidocranial dysplasia can cause a person to be shorter than average. Other symptoms may include absent collarbones, flattened skull, and problems with the spine.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"autosomal recessive form of cleidocranial dysostosis","Name":"Cleidocranial dysplasia, recessive form","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"CCD Smiles","Website__c":"https://ccdsmiles.org/"},{"Account_Name__c":"European Reference Network on Bone Disorders","Website__c":"https://ernbond.eu/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565843","Source__c":"MONDO:0008994","Xref__c":"C565843"},{"URL__c":"https://www.omim.org/entry/216330","Source__c":"C1859080; MONDO:0008994","Xref__c":"OMIM:216330"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859080","Source__c":"C1859080","Xref__c":"C1859080"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395170","Source__c":"C1859080","Xref__c":"MEDGEN:395170"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008994","Source__c":"GARD:0010623","Xref__c":"MONDO:0008994"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:216330","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:216330","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000248","HPO_Synonym__c":"Short and broad skull","HPO_Name__c":"Brachycephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["autosomal recessive form of cleidocranial dysostosis"]}