| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
Show
|
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000132 | Menorrhagia | |
Show
|
| HP:0000421 | Epistaxis | |
Show
|
| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
Show
|
| HP:0000978 | Ecchymoses | |
Show
|
| HP:0001082 | Cholecystitis | |
Show
|
| HP:0001394 | Cirrhosis | |
Show
|
| HP:0001409 | Portal hypertension | |
Show
|
| HP:0001541 | Ascites | |
Show
|
| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
Show
|
| HP:0001824 | Weight loss | |
Show
|
| HP:0001945 | Fever | |
Show
|
| HP:0002024 | Malabsorption | |
Show
|
| HP:0002027 | Abdominal pain | |
Show
|
| HP:0002040 | Esophageal varices | |
Show
|
| HP:0002239 | Gastrointestinal hemorrhage | |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002586 | Peritonitis | |
Show
|
| HP:0002625 | Deep venous thrombosis | |
Show
|
| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
Show
|
| HP:0003010 | Prolonged bleeding time | |
Show
|
| HP:0003225 | Factor V deficiency | |
Show
|
| HP:0003581 | Onset in adulthood | |
Show
|
| HP:0003645 | Prolonged partial thromboplastin time | |
Show
|
| HP:0005214 | Intestinal obstruction | |
Show
|
| HP:0005244 | Gastrointestinal infarctions | |
Show
|
| HP:0005542 | Whole-blood clotting time prolonged | |
Show
|
| HP:0006554 | Acute hepatic failure | "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] |
Show
|
| HP:0008151 | Prolonged prothrombin and partial thromboplastin times | |
Show
|
| HP:0012175 | Resistance to activated protein C | "Poor anticoagulant response to activated protein C. A plasma is termed APC resistant when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay." [HPO:probinson, pmid:14976057] |
Show
|
| HP:0100602 | Preecplampsia | "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [HPO:sdoelken] |
Show
|
| HP:0100724 | Hypercoagulability | |
Show
|
