| Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... |
OMIM:619130 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
| Thrombocytopenia 9 |
|
Thrombocytopenia, Decreased circulating thrombopoietin concentration, Abnormal platelet aggregation |
OMIM:620478 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... |
OMIM:187950 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... |
OMIM:619271 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... |
OMIM:173590 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... |
OMIM:615193 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:618462 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia |
OMIM:124900 |
| Glanzmann Thrombasthenia 2 |
|
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Decreased platelet g... |
OMIM:619267 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired a... |
OMIM:614009 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Abnormal platelet count, Prolonged bleeding time,... |
OMIM:614201 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... |
OMIM:615888 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:173420 |
| Glanzmann Thrombasthenia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired platelet ag... |
OMIM:273800 |
| Von Willebrand Disease, Platelet-Type |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... |
OMIM:155100 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... |
OMIM:620486 |
| Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... |
OMIM:617443 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... |
OMIM:300835 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... |
OMIM:139090 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Prolonged bleeding time, Impaired risto... |
OMIM:231200 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... |
OMIM:601399 |
| Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... |
ORPHA:2585 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:277480 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... |
OMIM:187900 |
| Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... |
OMIM:619374 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... |
OMIM:153670 |
| Hermansky-Pudlak Syndrome 3 |
|
Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
| Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
| Hermansky-Pudlak Syndrome 7 |
|
Impaired platelet aggregation, Prolonged bleeding time |
OMIM:614076 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Thrombocytopenia, Prolonged bleeding time, Impaired ADP-induced p... |
OMIM:614074 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia |
OMIM:185050 |
| Glanzmann Thrombasthenia |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation |
ORPHA:849 |
| Sitosterolemia 1 |
|
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... |
OMIM:210250 |
| Von Willebrand Disease, Type 1 |
|
Impaired platelet aggregation, Prolonged bleeding time |
OMIM:193400 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation, Iron deficiency anemia |
OMIM:618372 |
| Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules |
OMIM:619172 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Prolonged bleeding time, Neutropenia |
ORPHA:238459 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia |
ORPHA:903 |
| Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... |
ORPHA:274 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Sple... |
OMIM:608233 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Giant platelets, Increased mean platelet volume, Prolonged bleeding ... |
ORPHA:182050 |
| Hermansky-Pudlak Syndrome 6 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu... |
OMIM:614075 |
| Essential Thrombocythemia |
|
Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Prolong... |
ORPHA:3318 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Microcytic anemia |
ORPHA:1059 |
| Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
| Spherocytosis, Type 5 |
|
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... |
OMIM:612690 |
| Thrombocytopenia 2 |
|
Leukocytosis, Abnormal platelet shape, Thrombocytopenia, Abnormal platelet volume |
OMIM:188000 |
| Mgat2-Cdg |
|
Impaired platelet aggregation, Decreased circulating IgG level, Decreased circulating antibody le... |
ORPHA:79329 |
| Factor V Deficiency |
|
Prolonged prothrombin time, Prolonged bleeding time |
OMIM:227400 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Autoerythrocyte Sensitization Syndrome |
|
Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... |
ORPHA:324636 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... |
ORPHA:906 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Bone marrow... |
ORPHA:3226 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
| Chédiak-Higashi Syndrome |
|
Anemia, Increased proportion of CD25+ mast cells, Hemophagocytosis, Pancytopenia, Abnormal natura... |
ORPHA:167 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Prothrombin Deficiency, Congenital |
|
Prolonged prothrombin time, Prolonged bleeding time |
OMIM:613679 |
| Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia, Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosi... |
ORPHA:2968 |
| Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation, Hyperaldosteronism |
OMIM:241200 |
| Pseudohypoparathyroidism Type 1A |
|
Elevated circulating parathyroid hormone level, Abnormal platelet function, Reduced circulating p... |
ORPHA:79443 |
| Noonan Syndrome |
|
Juvenile myelomonocytic leukemia, Abnormal platelet function, Abnormality of the spleen |
ORPHA:648 |
| Hemophilia B |
|
Prolonged bleeding time |
ORPHA:98879 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela... |
OMIM:301000 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy |
ORPHA:314404 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy |
ORPHA:293987 |
| Niemann-Pick Disease Type C |
|
Narcolepsy |
ORPHA:646 |
| African Trypanosomiasis |
|
Narcolepsy |
ORPHA:3385 |
