{"Name":"Inherited prekallikrein deficiency","DiseaseID__c":"GARD:0004477","id":4477,"encodedName":"inherited-prekallikrein-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Inherited prekallikrein deficiency","Xref_IDs__c":"C562725; CN305372; MEDGEN:987194; MONDO:0012901; ORPHA:749","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012901","Disease_Description__c":"An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.","GARD_Name__c":"Inherited prekallikrein deficiency","GARD_Synonym__c":"congenital prekallikrein deficiency; fletcher factor (prekallikrein) deficiency; hereditary prekallikrein deficiency","Curated_Disease_Description_Source__c":"MONDO:0012901","Curated_Disease_Description__c":"An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:749","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012901","ORPHANET_ID__c":"ORPHA:749","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita de precalicreína","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia congénita de precalicreína","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97992","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 instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.","Curated_Disease_Description_Source__c":"MONDO:0012901","GARD_Synonym__c":"congenital prekallikrein deficiency; fletcher factor (prekallikrein) deficiency; hereditary prekallikrein deficiency","Name":"Inherited prekallikrein deficiency","estimateUsa":""}],"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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:749"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:749"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004477","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562725","Source__c":"MONDO:0012901","Xref__c":"C562725"},{"URL__c":"https://www.orpha.net/en/disease/detail/749","Source__c":"CN305372; MONDO:0012901","Xref__c":"ORPHA:749"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=987194","Source__c":"CN305372","Xref__c":"MEDGEN:987194"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012901","Source__c":"GARD:0004477","Xref__c":"MONDO:0012901"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN305372","Source__c":"CN305372","Xref__c":"CN305372"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KLKB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/klkb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["congenital prekallikrein deficiency"," fletcher factor (prekallikrein) deficiency"," hereditary prekallikrein deficiency"]}