Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Bleeding Disorder, Platelet-Type, 24 |
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Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 16 |
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Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Storage Pool Platelet Disease |
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Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Thrombocytopenia 3 |
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Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Thrombocytopenia 1 |
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Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
Thrombocytopenia 4 |
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Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... |
OMIM:617872 |
Bleeding Disorder, Platelet-Type, 15 |
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Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Drug-Induced Lupus Erythematosus |
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Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Sitosterolemia 1 |
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Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Platelet Glycoprotein Iv Deficiency |
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Giant platelets, Thrombocytopenia |
OMIM:608404 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Giant platelet syndrome with thrombocytopenia |
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Giant platelets, Thrombocytopenia |
OMIM:137560 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
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Macrothrombocytopenia |
OMIM:619840 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Bernard-Soulier Syndrome |
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Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Interstitial Nephritis, Karyomegalic |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Bleeding Disorder, Platelet-Type, 21 |
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Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Myh9-Related Disease |
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Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Recurrent fractures, Hypercalcemia, Craniosynostosis, Obesity, Increased blood urea nitrogen, Epi... |
ORPHA:251004 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Slc35A1-Cdg |
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Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Pelger-Huet Anomaly |
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Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
Orthostatic Hypotension 1 |
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Hypomagnesemia, Joint hypermobility, Increased blood urea nitrogen |
OMIM:223360 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Lathosterolosis |
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Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... |
OMIM:607330 |
46,Xy Sex Reversal 4 |
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Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Congenital Disorder Of Glycosylation, Type Iig |
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Osteopenia, Failure to thrive in infancy, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia |
OMIM:611209 |
Uremic Pruritus |
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Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Bleeding Disorder, Platelet-Type, 19 |
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Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
Dopamine Beta-Hydroxylase Deficiency |
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Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen |
ORPHA:230 |
Trichohepatoenteric Syndrome 1 |
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Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... |
OMIM:222470 |
Hereditary Renal Hypouricemia |
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Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Cockayne Syndrome Type 1 |
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Failure to thrive, Foot joint contracture, Anemia, Increased blood urea nitrogen |
ORPHA:90321 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Takenouchi-Kosaki Syndrome |
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Thrombocytopenia, Increased mean platelet volume, Camptodactyly |
OMIM:616737 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Bernard-Soulier Syndrome |
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Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Bleeding Disorder, Platelet-Type, 17 |
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Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Syndromic Diarrhea |
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Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus... |
ORPHA:84064 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Thrombocytopenia, Flexion contracture, Increased mean platelet volume, Camptodactyly |
ORPHA:487796 |
Goodpasture Syndrome |
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Weight loss, Anemia, Increased blood urea nitrogen |
OMIM:233450 |