Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Moderate hereditary factor VIII deficiency disease with low response inhibitor |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Severe hereditary factor IX deficiency disease with high response inhibitor |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Severe hereditary factor IX deficiency disease with low response inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Moderate hereditary factor IX deficiency disease with high response inhibitor |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Moderate hereditary factor IX deficiency disease with low response inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Mild hereditary factor IX deficiency disease with high response inhibitor |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Mild hereditary factor IX deficiency disease with low response inhibitor (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Pancytopenia caused by colchicine (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Pancytopenia caused by non-steroidal anti-inflammatory agent (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Atypical haemolytic uraemic syndrome with complement gene abnormality |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Atypical haemolytic uraemic syndrome with anti-factor H antibodies |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
4 |
A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
12 |
A factor activity level of >5 percent of normal and <40 percent of normal. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
A factor activity level ≥1 percent of normal and ≤5 percent of normal. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
A factor activity level <1 percent of normal. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Hemophilia B Leyden (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Pancytopenia caused by antidiabetic drug (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
6 |
TTS (thrombosis with thrombocytopenia syndrome) following non-replicating adenovirus vector COVID-19 vaccination |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
5 |
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Thrombosis with thrombocytopenia syndrome following vaccination (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
3 |
A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
7 |
A rare genetic, hemorrhagic disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, bleeding gums and excessive bleeding after minor trauma or surgical procedures. Severity of bleeding is variable, and blood transfusion may be required. Affected females may have menorrhagia. Patients present with a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, normal protein C activity and elevated tissue factor pathway inhibitor levels. It is caused by different mutations in factor V (FV) gene leading to short isoforms of the FV protein. Point mutation at A2440G is known as East Texas bleeding disorder, point mutation at C2588G is known as Amsterdam bleeding disorder and a large deletion in F5 exon 13 is known as Atlanta bleeding disorder. |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
1 |
Postpartum disorder of abnormal fibrinolysis (disorder) |
Interprets |
True |
Hemostatic function |
Inferred relationship |
Some |
2 |