{"Name":"Hereditary factor IX deficiency disease","DiseaseID__c":"GARD:0008732","id":8732,"encodedName":"hereditary-factor-ix-deficiency-disease","IsDeleted":false,"Disease_Name_Full__c":"Hereditary factor IX deficiency disease","Xref_IDs__c":"41788008; C0008533; C26721; D002836; D67; DOID:12259; MEDGEN:945; MONDO:0010604; OMIM:306900; ORPHA:98879","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0010604","Disease_Description__c":"A rare hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.","GARD_Name__c":"Hereditary factor IX deficiency disease","GARD_Synonym__c":"christmas disease; congenital f9 deficiency; congenital factor ix deficiency; congenital factor ix disorder; deficiency, functional factor ix; f9 deficiency; factor ix deficiency; haemophilia b, x-linked recessive; haemophilia type b; hemb; hemophilia b; hemophilia b, x-linked recessive; hemophilia type b; hereditary factor ix deficiency; plasma thromboplastin component deficiency; ptc deficiency disease; sex-linked factor ix deficiency disease","Curated_Disease_Description_Source__c":"GARD:0008732","Curated_Disease_Description__c":"Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of Hemophilia B, known as Hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by genetic changes in the F9 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:98879","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010604","ORPHANET_ID__c":"ORPHA:98879","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemofilia b","Spanish_Description_Source__c":"ORPHA:98879","Spanish_Description__c":"Es una enfermedad hematológica poco frecuente caracterizada por hemorragias espontáneas o prolongadas debido a un déficit de factor IX.","Spanish_Disease_Name__c":"hemofilia b","Spanish_GARD_Synonym__c":"deficiencia congénita de f9; deficiencia congénita de factor ix; enfermedad de navidad","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":"Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of Hemophilia B, known as Hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by genetic changes in the F9 gene.","Curated_Disease_Description_Source__c":"GARD:0008732","GARD_Synonym__c":"christmas disease; congenital f9 deficiency; congenital factor ix deficiency; congenital factor ix disorder; deficiency, functional factor ix; f9 deficiency; factor ix deficiency; haemophilia b, x-linked recessive; haemophilia type b; hemb; hemophilia b; hemophilia b, x-linked recessive; hemophilia type b; hereditary factor ix deficiency; plasma thromboplastin component deficiency; ptc deficiency disease; sex-linked factor ix deficiency disease","Name":"Hereditary factor IX deficiency disease","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Canadian Hemophilia Society","Website__c":"https://www.hemophilia.ca"},{"Account_Name__c":"National Bleeding Disorders Foundation","Website__c":"https://www.bleeding.org/"},{"Account_Name__c":"World Federation of Hemophilia","Website__c":"https://wfh.org/"},{"Account_Name__c":"Hemophilia Federation of America","Website__c":"https://www.hemophiliafed.org/"},{"Account_Name__c":"The Haemophilia Society","Website__c":"https://haemophilia.org.uk/"}],"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":"Childhood","Provided_By__c":"ORPHA:98879"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98879"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98879"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0008533"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1495","Source__c":"Gene Review","Xref__c":"NBK1495"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C26721","Source__c":"C0008533; MONDO:0010604","Xref__c":"C26721"},{"URL__c":"https://www.omim.org/entry/306900","Source__c":"C0008533; MONDO:0010604","Xref__c":"OMIM:306900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C002836","Source__c":"C0008533; MONDO:0010604","Xref__c":"D002836"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12259","Source__c":"MONDO:0010604","Xref__c":"DOID:12259"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0008533","Source__c":"C0008533","Xref__c":"C0008533"},{"URL__c":"https://www.orpha.net/en/disease/detail/98879","Source__c":"C0008533; MONDO:0010604; ORPHA:98879","Xref__c":"ORPHA:98879"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=41788008","Source__c":"C0008533; MONDO:0010604","Xref__c":"41788008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=945","Source__c":"C0008533","Xref__c":"MEDGEN:945"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010604","Source__c":"GARD:0008732","Xref__c":"MONDO:0010604"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=767712006","Source__c":"C0008533","Xref__c":"767712006"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D67","Source__c":"MONDO:0010604","Xref__c":"D67"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"F9","GHR_URL__c":"https://medlineplus.gov/genetics/gene/f9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolonged/excessive menses and bleeding at irregular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0400008","HPO_Name__c":"Menometrorrhagia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced ability to heal cutaneous wounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001058","HPO_Synonym__c":"Poor wound healing","HPO_Name__c":"Poor wound healing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003645","HPO_Synonym__c":"Abnormal partial thromboplastin time; Delayed thromboplastin generation; Partial thromboplastin time prolonged; Prolonged activated partial thromboplastin time; Prolonged PTT","HPO_Name__c":"Prolonged partial thromboplastin time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolonged bleeding post dental extraction sufficient to require medical intervention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006298","HPO_Synonym__c":"Prolonged bleeding after dental extraction","HPO_Name__c":"Prolonged bleeding after dental extraction","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005261","HPO_Synonym__c":"Bleeding within a joint; Hemarthroses; Hemarthrosis; Joint hemorrhage; Spontaneous joint hemorrhage","HPO_Name__c":"Joint hemorrhage","Feature_System__c":"Musculoskeletal System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012541","HPO_Synonym__c":"Cephalohaematoma","HPO_Name__c":"Cephalohematoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011858","HPO_Synonym__c":"Low factor IX activity","HPO_Name__c":"Reduced factor IX activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004406","HPO_Synonym__c":"Recurrent epistaxes; Recurrent epistaxis; Recurring nosebleed; Spontaneous, recurrent nosebleed","HPO_Name__c":"Spontaneous, recurrent epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bleeding that persists longer than the normal time following a surgical procedure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004846","HPO_Synonym__c":"Excessive bleeding during surgery; Prolonged bleeding after surgery; Protracted bleeding after surgery","HPO_Name__c":"Prolonged bleeding after surgery","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040232","HPO_Name__c":"Delayed onset bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002170","HPO_Synonym__c":"Bleeding within the skull","HPO_Name__c":"Intracranial hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Blood clot formed within muscle tissue following leakage of blood into the tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012233","HPO_Synonym__c":"IM hematoma; Intramuscular haematoma","HPO_Name__c":"Intramuscular hematoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003010","HPO_Synonym__c":"Increased bleeding time; Prolonged bleeding time","HPO_Name__c":"Prolonged bleeding time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["christmas disease"," congenital f9 deficiency"," congenital factor ix deficiency"," congenital factor ix disorder"," deficiency, functional factor ix"," f9 deficiency"," factor ix deficiency"," haemophilia b, x-linked recessive"," haemophilia type b"," hemb"," hemophilia b"," hemophilia b, x-linked recessive"," hemophilia type b"," hereditary factor ix deficiency"," plasma thromboplastin component deficiency"," ptc deficiency disease"," sex-linked factor ix deficiency disease"]}