Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hermansky-Pudlak syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Platelet dense granule deficiency |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autoimmune pancytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Chédiak-Higashi syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Scott syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Platelet storage pool defect |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Familial alpha>2< adrenergic receptor defect in platelets |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Isolated collagen aggregation defect |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acquired red cell aplasia |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
May-Hegglin anomaly |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
syndrome d'Epstein |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Montreal platelet syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Post-splenectomy thrombocytosis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pancytopenia-dysmelia |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Essential thrombocythemia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Megakaryocytic aplasia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Thrombocytopenia due to hypersplenism (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Perinatal thrombocytopenia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Platelet dysfunction associated with uremia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aplastic anaemia due to infection |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Hereditary thrombocytopenic disorder (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autoimmune neonatal thrombocytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aplastic anemia associated with pregnancy (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Medich giant platelet syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
WT limb blood syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
DK phocomelia syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Attenuated Chédiak-Higashi syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Revesz syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Thyrocerebrorenal syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital thrombocytopaenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acquired platelet disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acquired storage pool deficiency (platelets) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Constitutional aplastic anaemia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Chronic acquired pure red cell aplasia |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Periodontitis co-occurrent with Chédiak-Higashi syndrome |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Thrombocytopathy, asplenia and miosis (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aplastic anemia caused by antineoplastic agent |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Pancytopenia due to IKZF1 mutations |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Bleeding disorder due to glycoprotein VI deficiency (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ataxia pancytopenia syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Thrombocythemia with distal limb defect |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hypotrichosis with keratosis pilaris and lentiginosis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Disturbance of temperature regulation of newborn |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypothermia of newborn |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Newborn environmental hypothermia |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute ST segment elevation myocardial infarction due to proximal left anterior descending coronary artery occlusion |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute ST segment elevation myocardial infarction due to mid left anterior descending coronary artery occlusion |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute ST segment elevation myocardial infarction due to distal left anterior descending coronary artery occlusion |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital instability of spine |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Subsequent ST segment elevation myocardial infarction of inferior wall |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Subsequent ST segment elevation myocardial infarction of anterior wall |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Subsequent ST segment elevation myocardial infarction (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute ST segment elevation myocardial infarction due to occlusion of anterior descending branch of left coronary artery |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acute ST segment elevation myocardial infarction of inferoposterior wall |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Acute ST segment elevation myocardial infarction due to occlusion of septal branch of anterior descending branch of left coronary artery (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute ST segment elevation myocardial infarction due to occlusion of diagonal branch of anterior descending branch of left coronary artery (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Xeroderma of left eyelid (disorder) |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Xeroderma of right eyelid |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Xeroderma of right upper eyelid |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Xeroderma of left upper eyelid |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Iatrogenic instability of spine |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nitritoid reaction |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Thrombocytopenia due to severe acute respiratory syndrome coronavirus 2 (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Saliva discoloration |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tongue discoloration |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute ST segment elevation myocardial infarction due to occlusion of proximal portion of right coronary artery (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acute ST segment elevation myocardial infarction due to occlusion of distal portion of right coronary artery (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Acute ST segment elevation myocardial infarction due to occlusion of mid portion of right coronary artery |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Acute ST segment elevation myocardial infarction due to occlusion of marginal branch of right coronary artery (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Acute ST segment elevation myocardial infarction due to occlusion of posterior lateral branch of right coronary artery (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Acute ST segment elevation myocardial infarction due to occlusion of posterior descending branch of right coronary artery |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Instability of spine due to infectious disorder (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Instability of spine due to degeneration of spine (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pervasive developmental disorder with marked impairment of functional language without loss of previously acquired skills (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pervasive developmental disorder with impairment of functional language (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pervasive developmental disorder with marked impairment of functional language with loss of previously acquired skills (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pervasive developmental disorder with disorder of intellectual development and pervasive impairment of functional language without loss of previously acquired skills (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language with loss of previously acquired skills |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language without loss of previously acquired skills |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language without loss of previously acquired skills (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pervasive developmental disorder with disorder of intellectual development and absence of functional language with loss of previously acquired skills |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language with loss of previously acquired skills (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pervasive developmental disorder with severe impairment of functional language with loss of previously acquired skills (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pervasive developmental disorder with severe impairment of functional language without loss of previously acquired skills (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pervasive developmental disorder with abscence of functional language |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pervasive developmental disorder with complete impairment of functional language with loss of previously acquired skills |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pervasive developmental disorder with complete impairment of functional language without loss of previously acquired skills (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pervasive developmental disorder with complete impairment of functional language (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pervasive developmental disorder with cognitive developmental delay and marked impairment of functional language |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Familial pigmented purpuric eruption (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Leukocoria of left eye (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Leukocoria of right eye |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Leukocoria |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Harlequin fetus |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |