{"Name":"Autosomal dominant chondrodysplasia punctata","DiseaseID__c":"GARD:0001298","id":1298,"encodedName":"autosomal-dominant-chondrodysplasia-punctata","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant chondrodysplasia punctata","Xref_IDs__c":"C1442935; C563248; DOID:0060293; MEDGEN:303176; MONDO:0007321; OMIM:118650","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":"MONDO:0007321","Disease_Description__c":"Autosomal dominant form of chondrodysplasia punctata.","GARD_Name__c":"Autosomal dominant chondrodysplasia punctata","GARD_Synonym__c":"chondrodysplasia punctata due to vitamin k deficiency; chondrodysplasia punctata sheffield type; chondrodysplasia punctata, autosomal dominant; chondrodysplasia punctata, sheffield type","Curated_Disease_Description_Source__c":"MONDO:0007321","Curated_Disease_Description__c":"Autosomal dominant form of chondrodysplasia punctata.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007321","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":"Autosomal dominant form of chondrodysplasia punctata.","Curated_Disease_Description_Source__c":"MONDO:0007321","GARD_Synonym__c":"chondrodysplasia punctata due to vitamin k deficiency; chondrodysplasia punctata sheffield type; chondrodysplasia punctata, autosomal dominant; chondrodysplasia punctata, sheffield type","Name":"Autosomal dominant chondrodysplasia punctata","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060293","Source__c":"MONDO:0007321","Xref__c":"DOID:0060293"},{"URL__c":"https://www.omim.org/entry/118650","Source__c":"C1442935; MONDO:0007321","Xref__c":"OMIM:118650"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563248","Source__c":"MONDO:0007321","Xref__c":"C563248"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1442935","Source__c":"C1442935","Xref__c":"C1442935"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=303176","Source__c":"C1442935","Xref__c":"MEDGEN:303176"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007321","Source__c":"GARD:0001298","Xref__c":"MONDO:0007321"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:118650","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; 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Speckled calcifications in end part of bone; Stippled epiphyses; Stippling of the epiphyses","HPO_Name__c":"Epiphyseal stippling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118650","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007390","HPO_Name__c":"Hyperkeratosis with erythema","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118650","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118650","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118650","Feature__r":{"HPO_Description__c":"A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008855","HPO_Synonym__c":"Moderate growth delay in children","HPO_Name__c":"Moderate postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["chondrodysplasia punctata due to vitamin k deficiency"," chondrodysplasia punctata sheffield type"," chondrodysplasia punctata, autosomal dominant"," chondrodysplasia punctata, sheffield type"]}