{"Name":"Chondrodysplasia punctata","DiseaseID__c":"GARD:0008542","id":8542,"encodedName":"chondrodysplasia-punctata","IsDeleted":false,"Disease_Name_Full__c":"Chondrodysplasia punctata","Xref_IDs__c":"278715001; 360507004; C0008445; C84632; D002806; DOID:2581; MEDGEN:3052; MONDO:0019701; ORPHA:93442; Q77.3","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019701","Disease_Description__c":"A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.","GARD_Name__c":"Chondrodysplasia punctata","GARD_Synonym__c":"cdp; chondrodysplasia calcificans congenita; chondrodysplasia punctata (stippled epiphyses) group; chondrodysplasia punctata congenita; chondrodysplasia punctata, unclassified","Curated_Disease_Description_Source__c":"MONDO:0019701","Curated_Disease_Description__c":"Chondrodysplasia punctata is a rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, intellectual disability and ichthyosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:93442","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019701","ORPHANET_ID__c":"ORPHA:93442","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Condrodisplasia punctata","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"condrodisplasia punctata","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":"Chondrodysplasia punctata is a rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, intellectual disability and ichthyosis.","Curated_Disease_Description_Source__c":"MONDO:0019701","GARD_Synonym__c":"cdp; chondrodysplasia calcificans congenita; chondrodysplasia punctata (stippled epiphyses) group; chondrodysplasia punctata congenita; chondrodysplasia punctata, unclassified","Name":"Chondrodysplasia punctata","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"UCLA International Skeletal Dysplasia Registry (ISDR)","Website__c":"https://www.uclahealth.org/ortho/isdr"}],"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0008445"}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q77.3","Source__c":"MONDO:0019701","Xref__c":"Q77.3"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2581","Source__c":"MONDO:0019701","Xref__c":"DOID:2581"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=3052","Source__c":"C0008445","Xref__c":"MEDGEN:3052"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84632","Source__c":"C0008445; MONDO:0019701","Xref__c":"C84632"},{"URL__c":"https://www.orpha.net/en/disease/detail/93442","Source__c":"C0008445; MONDO:0019701; ORPHA:93442","Xref__c":"ORPHA:93442"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0008445","Source__c":"C0008445","Xref__c":"C0008445"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=360507004","Source__c":"MONDO:0019701","Xref__c":"360507004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C002806","Source__c":"C0008445; MONDO:0019701","Xref__c":"D002806"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=278715001","Source__c":"C0008445","Xref__c":"278715001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019701","Source__c":"GARD:0008542","Xref__c":"MONDO:0019701"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"]},"synonyms":["cdp"," chondrodysplasia calcificans congenita"," chondrodysplasia punctata (stippled epiphyses) group"," chondrodysplasia punctata congenita"," chondrodysplasia punctata, unclassified"]}