Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Giant platelet syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Factor XI deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Communication disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Dysphonia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Platelet membrane defect |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Discourse difficulties |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Word finding difficulty |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Haemorrhagic disorder due to increase in anti-9a |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Apraxic aphonia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Drug induced thrombotic thrombocytopenic purpura (disorder) |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
8 |
von Willebrand disease, type 1^a^ |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Cyclic thrombocytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Factor XI deficiency, type III |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Expressive language impairment |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Prothrombin complex deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Moderate disease manifests factor VIII activity of 2% to 5% of normal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Factor VII deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Illegal abortion with afibrinogenemia |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
A form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Blood coagulation disorder complicating pregnancy (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Severe expressive language delay |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hereditary hypoplasminogenemia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Mixed receptive-expressive language disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Secondary thrombocytopenia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Developmental language disorder and impairment of expressive language |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Idiopathic factor VIII deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Mixed alpha granule and dense body deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Stellate pseudoscar in senile purpura (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Hereditary factor II deficiency disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Secondary autoimmune thrombocytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Failed attempted abortion with defibrination syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Familial hemorrhagic diathesis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Psychogenic vocal cord dysfunction (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
dermatite ocra di Favre |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Aphonia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Semantic dysphasia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Failed attempted abortion with afibrinogenemia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Blood coagulation disorder with prolonged bleeding time (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Mediterranean thrombocytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Periodontitis co-occurrent with Chédiak-Higashi syndrome |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
3 |
maladie de von Willebrand type 2M |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Hereditary factor X deficiency disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Vocal abuse in children |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Dystonic dysphonia |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
maladie de von Willebrand type 2B |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Speech and language dyspraxias |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Blood coagulation disorder complicating childbirth |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Familial multiple factor deficiency syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hemophilia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Chronic acquired pure red cell aplasia |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
6 |
Homozygous prothrombin G20210A mutation (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Familial multiple factor deficiency syndrome, type I |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Late onset diffuse bleeding diathesis secondary to vitamin K deficient hemorrhagic disease of fetus and newborn (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Spastic aphonia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Steroid purpura |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Acquired factor IX deficiency disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Haemorrhagic disorder due to increase in anti-10a |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Non-thrombocytopenic purpura |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Postpartum coagulation defects |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Postpartum fibrinolysis with hemorrhage |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Ventricular band phonation |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Acquired pancytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
5 |
von Willebrand disease, type IIE |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Fibrinogen abnormality |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Miscarriage with defibrination syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
von Willebrand disease, type IIA |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Antiprothrombin disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Capillary fragility abnormality |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
thrombopénie due à une circulation sanguine extracorporelle |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Articulatory dyspraxia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
von Willebrand disease, type IIF |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations). |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Acquired PF-3 disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Autosomal dominant deficiency of plasminogen |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
High molecular weight kininogen deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Developmental language disorder and impairment of mainly pragmatic language |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Psychogenic adductor spastic dysphonia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Pancytopenia-dysmelia |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
5 |
Autoimmune factor VIII deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Secondary non-thrombocytopenic purpura |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Platelet factor V deficiency (factor V Quebec) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hyperglobulinemic purpura (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Dyspraxia of velopharynx |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hereditary thrombophilia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Cryofibrinogenemic purpura (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Immature articulatory praxis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
purpura thrombopénique idiopathique |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
4 |
Stasis purpura |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Purpura due to increased intravascular pressure (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Cryoglobulinemic purpura |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Heterozygous protein S deficiency (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Acquired red cell aplasia |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
6 |
Early onset diffuse bleeding diathesis secondary to vitamin K deficient hemorrhagic disease of fetus and newborn (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Hereditary factor XIII A subunit deficiency (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Exhausted platelets |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |