Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Bleeding Disorder, Platelet-Type, 16 |
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Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Bleeding Disorder, Platelet-Type, 15 |
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Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
Storage Pool Platelet Disease |
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Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
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Macrothrombocytopenia |
OMIM:619840 |
Bleeding Disorder, Platelet-Type, 24 |
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Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
Platelet Glycoprotein Iv Deficiency |
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Giant platelets, Thrombocytopenia |
OMIM:608404 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm... |
OMIM:313900 |
Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
Thrombocytopenia 2 |
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Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Giant platelet syndrome with thrombocytopenia |
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Giant platelets, Thrombocytopenia |
OMIM:137560 |
Bleeding Disorder, Platelet-Type, 25 |
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Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Bleeding Disorder, Platelet-Type, 21 |
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Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... |
OMIM:617443 |
Bernard-Soulier Syndrome |
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Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
Myh9-Related Disease |
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Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia |
OMIM:617718 |
Slc35A1-Cdg |
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Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
Wiskott-Aldrich Syndrome |
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Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Sitosterolemia 1 |
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Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Ghosal Hematodiaphyseal Dysplasia |
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Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... |
OMIM:231095 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... |
OMIM:615925 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
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Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... |
OMIM:618160 |
Pelger-Huet Anomaly |
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Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Postnatal growth retardation, Decreased serum insulin-like growth factor 1, Delayed puberty, Shor... |
OMIM:618985 |
Insulin-Like Growth Factor I Deficiency |
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Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Decreased s... |
OMIM:608747 |
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Giant platelets, Camptodactyly, Thrombocytopenia, Anemia |
OMIM:611209 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... |
ORPHA:274 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Mac... |
OMIM:187900 |
Late-Onset Familial Hypoaldosteronism |
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Failure to thrive, Postnatal growth retardation, Decreased circulating aldosterone level, Elevate... |
ORPHA:556037 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Postnatal growth retardation,... |
ORPHA:453533 |
Takenouchi-Kosaki Syndrome |
|
Camptodactyly, Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Early-Onset Familial Hypoaldosteronism |
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Failure to thrive, Postnatal growth retardation, Decreased circulating aldosterone level, Elevate... |
ORPHA:556030 |
Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Splenomegaly, Increased mean platelet volume |
OMIM:222470 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Camptodactyly, Flexion contracture, Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Increased mean platelet volume |
ORPHA:84064 |