Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Thromboxane generation defect |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Pigmented purpuric lichenoid dermatitis of Gougerot and Blum |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hereditary von Willebrand disease type 2B |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Von Voss-Cherstvoy syndrome |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Amegakaryocytic thrombocytopenia with congenital malformation |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Hereditary factor V deficiency disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Anti-factor II disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Anticoagulant excess without bleeding |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Elective mutism |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
von Willebrand disease type IA |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Radial aplasia-thrombocytopenia syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Factor XIII deficiency disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Blood coagulation disorder due to liver disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Severe hereditary factor IX deficiency disease with inhibitor |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Haemorrhagic disorder due to antithrombinaemia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Alpha chain defect dysfibrinogenaemia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Adductor spastic dysphonia of musculoskeletal tension reaction |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Familial multiple factor deficiency syndrome, type III |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Receptive language disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hyperkinetic aphonia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Conversion aphonia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Upshaw-Schulman syndrome |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
8 |
Congenital thrombocytopenic purpura |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
3 |
von Willebrand disease type IB |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Factor II deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Mild developmental articulation disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Ataxic dysphonia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Conversion dysphonia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Contact purpura |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Severe receptive language delay |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Homozygous protein C deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Speech and language disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Sex-linked thrombocytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Phonological disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Revesz syndrome |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
8 |
Mild hereditary factor VIII deficiency disease without inhibitor |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
von Willebrand disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Megakaryocytic thrombocytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Purpura pigmentosa chronica |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Acute haemorrhagic oedema of childhood |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
3 |
Dysfluency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Semantic-pragmatic impairment |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Clothing purpura |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
von Willebrand disease, type IIH |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Legal termination of pregnancy with afibrinogenaemia |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Developmental verbal dyspraxia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
MYH9 macrothrombocytopenia syndrome |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Secondary cutaneous vasculitis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Afibrinogenaemia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Heterozygous protein C deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Thrombocytopenic purpura due to platelet consumption |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Severe hereditary factor IX deficiency disease without inhibitor |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Essential thrombocythaemia |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Refractory thrombocytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Hereditary hyperhomocysteinemia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hereditary factor XIII B subunit deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hereditary coagulation factor deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Transient neonatal thrombocytopenia due to isoimmunisation |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Vitamin K deficiency coagulation disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Thrombophilia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Reactive thrombocytosis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Homozygous Factor V Leiden mutation |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Neonatal thrombocytopenia due to idiopathic maternal thrombocytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Coagulation factor deficiency syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hypernasality and hyponasality |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
High bone mass osteogenesis imperfecta |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Hermansky-Pudlak syndrome |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
3 |
Osteogenesis imperfecta type I |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Ehlers-Danlos and osteogenesis imperfecta syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Osteogenesis imperfecta type III |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Osteogenesis imperfecta type IIA |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Osteogenesis imperfecta, perinatal lethal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Osteogenesis imperfecta type IIB |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Osteogenesis imperfecta |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Osteogenesis imperfecta, type IV B |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Osteogenesis imperfecta with normal sclerae, dominant form |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Osteoporosis with pseudoglioma |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Osteogenesis imperfecta, type IV A |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Osteogenesis imperfecta, recessive perinatal lethal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Osteogenesis imperfecta with blue sclerae AND normal teeth |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Osteogenesis imperfecta, dominant perinatal lethal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
5 |
Hereditary hyperekplexia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Sporadic hyperekplexia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Irregular tear film |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Abnormal hair finding |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Sexual dysfunction due to amphetamine and amphetamine derivative |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Acquired haemophilia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Palmoplantar keratoderma, spastic paralysis syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Hyperekplexia epilepsy syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Chronic instability of bilateral knee joints |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Chronic instability of bilateral knee joints |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Adult onset fluency disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Aplastic anaemia due to drugs |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
8 |
Acquired factor V deficiency disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Systemic lupus erythematosus-associated antiphospholipid syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Perinatal purpura |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
3 |
Heparin-induced thrombocytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Bleeding diathesis due to thromboxane synthesis deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |