Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Athrombia, Essential |
|
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... |
OMIM:209050 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia, Prolonged bleeding time |
OMIM:177820 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... |
ORPHA:231393 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time |
OMIM:615888 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... |
OMIM:612201 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... |
OMIM:115210 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time |
OMIM:608404 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... |
OMIM:231200 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... |
OMIM:124900 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 8 |
|
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... |
OMIM:609821 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... |
OMIM:613874 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet agg... |
OMIM:187950 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... |
OMIM:173470 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:173420 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613876 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time |
OMIM:614201 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time |
OMIM:614158 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... |
OMIM:611556 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... |
OMIM:155100 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... |
OMIM:614009 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... |
OMIM:187800 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
Glanzmann Thrombasthenia |
|
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... |
ORPHA:849 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... |
OMIM:277480 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... |
OMIM:187900 |
Giant platelet syndrome with thrombocytopenia |
|
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... |
OMIM:137560 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Factor V Deficiency |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... |
OMIM:227400 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... |
OMIM:314050 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact... |
OMIM:261000 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... |
OMIM:605735 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... |
ORPHA:217607 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia, Hypertension, Raynaud phenomenon |
ORPHA:401945 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... |
OMIM:139090 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Microcytic anemia, Gastrointestinal infarctions, Volvulus, Prolonged bleedin... |
ORPHA:1059 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Urticaria, Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Nephrotic syndrome, Spleno... |
OMIM:603909 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Thrombocytopenia, Pyloric stenosis, Prolonged bleeding time |
OMIM:188025 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... |
OMIM:601709 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal bleeding, Anorexia, Extramedullary ... |
ORPHA:824 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal bleeding, Recurrent skin infections... |
OMIM:612840 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... |
OMIM:613679 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... |
OMIM:618782 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time |
OMIM:185050 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... |
OMIM:616201 |
Slc35A1-Cdg |
|
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Giant ... |
ORPHA:238459 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... |
OMIM:601399 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Urticaria, Otitis media, Eczema, Sudden cardiac death, Hematochezia, Spontaneous hemat... |
ORPHA:906 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Post-partum hemorrhage, Anisocytosis, Oral cavity blee... |
ORPHA:98870 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
Dengue Fever |
|
Petechiae, Hepatomegaly, Cerebral hemorrhage, Skin rash, Bruising susceptibility, Abdominal pain,... |
ORPHA:99828 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, R... |
ORPHA:85451 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Leukocyte i... |
OMIM:153640 |
Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage, Epistaxis |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage, Epistaxis |
ORPHA:98881 |
Acute Promyelocytic Leukemia |
|
Hematuria, Pancytopenia, Lymphadenopathy, Metrorrhagia, Abnormal bleeding, Oral cavity bleeding, ... |
ORPHA:520 |
Prolidase Deficiency |
|
Increased circulating antibody level, Petechiae, Hepatomegaly, Diffuse telangiectasia, Splenomega... |
OMIM:170100 |
Hemochromatosis, Type 3 |
|
Amenorrhea, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Cirrhosis, Arthritis, Elevated... |
OMIM:604250 |
Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... |
OMIM:193400 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hemophagocytosis, Abnormal renal physiology, Maculopapular exanthema, Erythroderma,... |
ORPHA:540 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... |
ORPHA:274 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Hepatomegaly, Decreased glomerular filtration rate, Diarrhea, Vomiting, Proteinuria, H... |
ORPHA:85450 |
Cryoglobulinemic Vasculitis |
|
Petechiae, Viral hepatitis, Hepatomegaly, Abdominal pain, Splenomegaly, Cutis marmorata, Mediasti... |
ORPHA:91138 |
Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia |
OMIM:617443 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:617222 |
Boutonneuse Fever |
|
Petechiae, Abdominal pain, Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopen... |
ORPHA:83313 |
Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... |
OMIM:619463 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Pustule, Skin rash, Raynaud phenomenon, Anemia, Increased circulating IgA level, Leu... |
OMIM:615934 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Mixed Connective Tissue Disease |
|
Gastritis, Gastroesophageal reflux, Skin rash, Splenomegaly, Hepatomegaly, Leukopenia, Xerostomia... |
ORPHA:809 |
Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... |
ORPHA:327 |
Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, Left ventricular hypertrophy, EMG: myopathic abnormalities, Prolon... |
OMIM:619040 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Drug-Induced Lupus Erythematosus |
|
Petechiae, Anemia, Hematuria, Prolonged QTc interval, Serositis, Malar rash, Pericarditis, Thromb... |
ORPHA:231111 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Cutis marmorata, Hematuria, Myocarditis, Myocardial infarction, Increased inflammatory... |
ORPHA:183 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Atrial septal defect, Hemangioma, Pulmonary embolism, Prolonged bleeding time, Abno... |
ORPHA:90308 |
Hermansky-Pudlak Syndrome 7 |
|
Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility |
OMIM:614076 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Gray matter heteroto... |
OMIM:617397 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Bruising susceptibility, Menorrhagia, Congenital thrombocytopenia, I... |
ORPHA:182050 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
Hermansky-Pudlak Syndrome 3 |
|
Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,... |
OMIM:614072 |
Sepsis In Premature Infants |
|
Hepatomegaly, Diarrhea, Vomiting, Reversible renal failure, Gastrointestinal dysmotility, Jaundic... |
ORPHA:90051 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Ventricular hypertrophy, Congestive heart failure, Br... |
OMIM:619048 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormality of the hepatic vasculature, Abnormal retinal vascular morphology, Skin rash, Raynaud ... |
ORPHA:247691 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... |
OMIM:600858 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopa... |
OMIM:619644 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Reticulocytosis, Optic atrophy... |
OMIM:611490 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Skin rash, Abnormally low T cell recep... |
OMIM:619374 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... |
ORPHA:90044 |
Aggressive Systemic Mastocytosis |
|
Abdominal cramps, Urticaria, Maculopapular exanthema, Diarrhea, Increased proportion of CD25+ mas... |
ORPHA:98850 |
Acquired Purpura Fulminans |
|
Neoplasm, Acrocyanosis, Skin rash, Hepatic failure, Macular purpura, Intracranial hemorrhage, Sho... |
ORPHA:49566 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... |
OMIM:615770 |
Whipple Disease |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Anemia, Diarrhea, Mediastina... |
ORPHA:3452 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Petechiae, Bruising susceptibility, Splenomegaly, Prolonged bleeding after dental extraction, Men... |
OMIM:153670 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Hepatomegaly, Multiple gastric polyps, Splenomegaly, Erythema, Chilblains, Vasculitis,... |
OMIM:225750 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Arrhythmia, Bradycardia, Atrial fibrillation, Proximal amyotrophy |
OMIM:614302 |
Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Persistent bleeding after trauma, Hepatic failure, Prolonged bleeding after den... |
ORPHA:331 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... |
OMIM:615897 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Jaundice, Bruising susceptibilit... |
ORPHA:1959 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Abscess, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Increased circulating myel... |
ORPHA:36234 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... |
ORPHA:3093 |
Gray Platelet Syndrome |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormality of the menstrual cycle, Mye... |
ORPHA:721 |
Autoimmune Lymphoproliferative Syndrome |
|
Urticaria, Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Non-Hodgkin lymp... |
ORPHA:3261 |
Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Hypocalcemia, Splenomegaly, Reduced bone mineral density |
ORPHA:172 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Bruising susceptibility, Splenomegaly, Leukocytosis, Myeloproliferative disorder, I... |
ORPHA:3226 |
Wiskott-Aldrich Syndrome |
|
Melena, Lymphoproliferative disorder, Eczema, Diarrhea, Decreased mean platelet volume, Large ves... |
OMIM:301000 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Sweet Syndrome |
|
Neutrophilia, Acne inversa, Acne, Pyoderma gangrenosum, Oligoarthritis, Sterile abscess, Inflamma... |
ORPHA:3243 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Diarrhea, Vomiting, Hematuria, Proteinuria, Microangiopathic hemolytic anemia... |
ORPHA:93552 |
Periodic Fever, Familial, Autosomal Dominant |
|
Oligoarthritis, Hepatomegaly, Hepatic amyloidosis, Skin rash, Abdominal pain, Cervical lymphadeno... |
OMIM:142680 |
Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... |
ORPHA:326 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Microcytic anemia, Neutropenia, HbH hem... |
ORPHA:231401 |
Thrombocytopenia 5 |
|
Petechiae, Bruising susceptibility, Neutropenia, Anemia, Thrombocytopenia, Epistaxis |
OMIM:616216 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferat... |
OMIM:614470 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
Sea-Blue Histiocytosis |
|
Blepharitis, Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Re... |
ORPHA:158029 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Marburg Hemorrhagic Fever |
|
Odynophagia, Pancreatitis, Maculopapular exanthema, Diarrhea, Vomiting, Uveitis, Pericarditis, Re... |
ORPHA:99826 |
Mirage Syndrome |
|
Petechiae, Gastroesophageal reflux, Lymphopenia, Aspiration pneumonia, Hypergonadotropic hypogona... |
OMIM:617053 |
Waldenström Macroglobulinemia |
|
Urticaria, Hepatomegaly, Cutis marmorata, Diarrhea, Gastrointestinal hemorrhage, Leukemia, Malabs... |
ORPHA:33226 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Lymphoproliferative disorder, Eczema, Cutis marmorata, Optic atrophy, Esophageal va... |
OMIM:615688 |
Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, D... |
ORPHA:324636 |
Pseudo-Torch Syndrome 1 |
|
Decreased liver function, Petechiae, Hepatomegaly, Splenomegaly, Polymicrogyria, Elevated hepatic... |
OMIM:251290 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
Graft Versus Host Disease |
|
Recurrent gastroenteritis, Hemophagocytosis, Maculopapular exanthema, Diarrhea, Vomiting, Pneumon... |
ORPHA:39812 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Neuromuscular dysphagia, Pseudobulbar paralysis, Abnormal bleeding, Intrac... |
ORPHA:449285 |
Congenital Fibrinogen Deficiency |
|
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Right ventricular hypertrophy, Abnorm... |
ORPHA:335 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... |
ORPHA:853 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Abnormal esophagus physiology, Dysphagia... |
ORPHA:2198 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... |
ORPHA:99147 |
Hermansky-Pudlak Syndrome 5 |
|
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... |
OMIM:614074 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Abnormal bleeding, Cirrhosis, Biliary tract abnormalit... |
ORPHA:79301 |
Diffuse Cutaneous Mastocytosis |
|
Urticaria, Flushing, Hepatomegaly, Lymphocytosis, Abdominal pain, Dermatographic urticaria, Myelo... |
ORPHA:79456 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Simple Cryoglobulinemia |
|
Multiple myeloma, Vascular skin abnormality, Monoclonal elevation of circulating IgA, Myocardial ... |
ORPHA:91139 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Nephrotic range proteinuria, Decreased specific pneumococcal antibody level, Macros... |
OMIM:613496 |
Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... |
OMIM:202400 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... |
OMIM:612124 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy |
OMIM:617713 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... |
OMIM:614954 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Constipation, Diarrhea, Vomiting, Uveitis, Abnormal myocardium morphology, Pericarditis, Splenome... |
ORPHA:32960 |
Anti-Glomerular Basement Membrane Disease |
|
Retinal detachment, Hematuria, Vasculitis, Arthritis, Purpura, Renal insufficiency, Proteinuria, ... |
ORPHA:375 |
Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Neoplasm, Skin rash, Raynaud phenomenon, Proximal muscle weakness in lower... |
ORPHA:206569 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Tufted Angioma |
|
Petechiae, Facial hemangioma, Neoplasm of the skin, Purpura, Anemia, Thrombocytopenia, Hemangioma... |
ORPHA:1063 |
Thrombotic Thrombocytopenic Purpura |
|
Abdominal pain, Diarrhea, Arrhythmia, Hematuria, Myocardial infarction, Proteinuria, Renal insuff... |
ORPHA:54057 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Carcinoid Syndrome |
|
Atypical pulmonary carcinoid tumor, Episodic abdominal pain, Tricuspid regurgitation, Lack of bow... |
ORPHA:100093 |
Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Urticaria, Gastritis, Eczema, Vomiting, Pneumonia, Malabsorption, Ecze... |
ORPHA:37042 |
Severe Hemophilia A |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... |
ORPHA:169802 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Esophageal varix, Pruritus, Gastrointestinal hemorrhage, Jaun... |
ORPHA:64743 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Essential Thrombocythemia |
|
Splenomegaly, Myocardial infarction, Abnormal platelet morphology, Abnormality of thrombocytes, T... |
ORPHA:3318 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Petechiae, Persistent bleeding after trauma, Bruising susceptibi... |
OMIM:300367 |
Hermansky-Pudlak Syndrome 6 |
|
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... |
OMIM:614075 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Cutaneous Small Vessel Vasculitis |
|
Urticaria, Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Vasculitis, Purpura |
ORPHA:889 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertr... |
OMIM:261740 |
Kaposiform Lymphangiomatosis |
|
Papilloma, Lymphangioma, Bruising susceptibility, Splenomegaly, Abnormal bleeding, Metrorrhagia, ... |
ORPHA:464329 |
Congenital Sialidosis Type 2 |
|
Petechiae, Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Yellow/white lesions ... |
ORPHA:93400 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... |
ORPHA:2494 |
Hereditary Spherocytosis |
|
Cholelithiasis, Abdominal distention, Hepatomegaly, Abdominal pain, Spherocytosis, Restrictive ca... |
ORPHA:822 |
Cutaneous Collagenous Vasculopathy |
|
Petechiae, Vascular skin abnormality, Diffuse telangiectasia, Bruising susceptibility, Skin rash,... |
ORPHA:280779 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations, Vitreous hemorrhage, Nephritis, Retinal neovascularization, Ne... |
OMIM:180080 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Subcutaneous hemorrhage, Abnormality of neuronal migration, Thrombocytopenia, Abnor... |
ORPHA:1980 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Neutrophilia, Hepatic failure, Hemothorax, Hepatomeg... |
ORPHA:99827 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... |
ORPHA:563 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... |
OMIM:619774 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... |
OMIM:601005 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin |
OMIM:235900 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Al Amyloidosis |
|
Hepatomegaly, Autonomic erectile dysfunction, Proteinuria, Postural hypotension with compensatory... |
ORPHA:85443 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
Q Fever |
|
Hepatomegaly, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, Pericarditis, Lymphaden... |
ORPHA:781 |
Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... |
ORPHA:57777 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Eales Disease |
|
Constipation, Peripheral retinal neovascularization, Retinal thinning, Optic disc pallor, Tractio... |
ORPHA:40923 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... |
ORPHA:86812 |
Cinca Syndrome |
|
Urticaria, Abnormality of thrombocytes, Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Pseudop... |
ORPHA:1451 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Diarrhea, Vomiting, Hematuria, Proteinuria, Pneumon... |
ORPHA:340 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... |
OMIM:615745 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemoglobin F, Macrocytic ... |
OMIM:612561 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Abdominal pain, Polycythemia, Abnormal bleeding, Epistaxis |
ORPHA:90042 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Skin ulcer, Jaundice, Feeding difficul... |
ORPHA:231226 |
Common Variable Immunodeficiency |
|
Anal atresia, Lymphopenia, Gastrointestinal stroma tumor, Otitis media, Splenomegaly, Autoimmune ... |
ORPHA:1572 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Petechiae, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia,... |
ORPHA:79477 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Increased circulating IgA level, Hepatomegaly, Abdominal pain, Peritonitis, Diarrhea, ... |
ORPHA:343 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Skin rash, Flexion co... |
OMIM:617591 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Monocytosis, Leukopenia, Lymphoma, Bone marrow hypocellularity, Myelodysplasia, Refractor... |
OMIM:616871 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Lymphoproliferative disorder, Cutis marmorata, Skin ulcer, Lymphadenopa... |
ORPHA:289390 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Fabry Disease |
|
Angina pectoris, Abdominal pain, Angiokeratoma, Anemia, Left ventricular hypertrophy, Diarrhea, A... |
OMIM:301500 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block |
OMIM:192605 |
Typhoid |
|
Constipation, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Epistaxis, Diarrhea, Arrhyth... |
ORPHA:99745 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... |
OMIM:615631 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymp... |
ORPHA:2442 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Otitis media, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Intermittent thr... |
OMIM:612541 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Congenital Factor Xi Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Gas... |
ORPHA:329 |
Isolated Polycystic Liver Disease |
|
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Hepatomegaly, Polycystic liver dis... |
ORPHA:2924 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Shigellosis |
|
Abdominal cramps, Bloody mucoid diarrhea, Urticaria, Hepatic failure, Urethritis, Abscess, Vomiti... |
ORPHA:810 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Hepatomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Neonatal death, Purpu... |
OMIM:608013 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Stomach cancer, Abnormality of the ureter, Neoplasm of the small intestin... |
ORPHA:2869 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Diarrhea, Aniso... |
ORPHA:231214 |
Juvenile Dermatomyositis |
|
Angina pectoris, Telangiectasia of the skin, Constipation, Pruritus, Skin ulcer, Calcinosis, Gast... |
ORPHA:93672 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Menorrhagia, Macrothrombocytopenia, Spontaneous hematomas, Anemia, Epistaxis |
OMIM:616176 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... |
OMIM:613690 |
Antisynthetase Syndrome |
|
Telangiectasia of the skin, Neoplasm, Skin rash, Lack of skin elasticity, Xerostomia, Myositis, M... |
ORPHA:81 |
Refractory Celiac Disease |
|
Hypomagnesemia, Inflammatory abnormality of the skin, Hypophosphatemia, Hypocalcemia, Hypoprotein... |
ORPHA:398063 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Lujo Hemorrhagic Fever |
|
Abdominal cramps, Odynophagia, Maculopapular exanthema, Diarrhea, Vomiting, Myocarditis, Rhinitis... |
ORPHA:319213 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal bleeding, Palpitations, Abnormal mean cor... |
ORPHA:86839 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice, Myopathy |
ORPHA:33574 |
Thymoma |
|
Neoplasm, Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Myositis, Aplastic anemia... |
ORPHA:99867 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Urticaria, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervi... |
ORPHA:3260 |
Roch-Leri Mesosomatous Lipomatosis |
|
Purpura, Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
Myasthenia Gravis |
|
Raynaud phenomenon, Rheumatoid arthritis, Glycosuria, Myositis, Hemolytic anemia, Hepatitis, Abno... |
ORPHA:589 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Constipation, Hypersegmentation of neutrophil nuclei, Abnormal... |
ORPHA:35858 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
Meningococcal Meningitis |
|
Petechiae, Skin rash, Projectile vomiting, Anorexia, Papilledema, Hypotension, Shock, Purpura, In... |
ORPHA:33475 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Leukocytosis, Recurrent skin infections, Polycythemia, Cutis marmorat... |
ORPHA:542643 |
Purpura Simplex |
|
Epistaxis, Purpura, Menorrhagia, Bruising susceptibility |
OMIM:179000 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Behçet Disease |
|
Pancreatitis, Myocardial infarction, Increased inflammatory response, Abnormal myocardium morphol... |
ORPHA:117 |
Brucellosis |
|
Hepatomegaly, Vomiting, Myocarditis, Epididymitis, Knee osteoarthritis, Pneumonia, Transient isch... |
ORPHA:1304 |
Hemophilia A |
|
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Optic atrophy, Proteinuria, Pericarditis, Stage 5 chronic kidney disease, Feeding d... |
OMIM:619487 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia, Bruising susceptibility |
OMIM:188000 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Schnitzler Syndrome |
|
Urticaria, Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Arthritis, Lymphoma, ... |
ORPHA:37748 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Cholestasis-Lymphedema Syndrome |
|
Neonatal cholestatic liver disease, Hepatomegaly, Abdominal pain, Splenomegaly, Cirrhosis, Multip... |
ORPHA:1414 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Mastocytosis |
|
Telangiectasia of the skin, Urticaria, Hepatomegaly, Splenomegaly, Anorexia, Diarrhea, Arrhythmia... |
ORPHA:98292 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Microscopic Polyangiitis |
|
Pancreatitis, Cutis marmorata, Diarrhea, Hematuria, Uveitis, Increased inflammatory response, Ski... |
ORPHA:727 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Flexion contracture |
OMIM:616733 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Macu... |
ORPHA:891 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Calvarial osteoscl... |
ORPHA:93324 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Cutaneous photosensitivity, Purpura, Vasculitis |
OMIM:614380 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, Purpura, Proteinuria, Hypertension, Stage 5 chronic kidney disease |
OMIM:161950 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Anal fissure, S... |
ORPHA:209964 |
Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Dysgammaglobulinemia, Splenomegaly |
ORPHA:100025 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Flexion contracture, Hypertrophic cardiomyopathy |
OMIM:618815 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Leukocytosis, Eczema, Lymphadenitis, Inflammation of ... |
OMIM:615895 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Myeloid leukemia, ... |
ORPHA:48104 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... |
OMIM:609040 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Abdominal pain, Re... |
ORPHA:486 |
Autoimmune Hepatitis |
|
Diffuse hepatic steatosis, Gastrointestinal hemorrhage, Jaundice, Increased circulating antibody ... |
ORPHA:2137 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypo... |
ORPHA:53 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy |
OMIM:300376 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Abdominal pain, Splenomegaly, Abnormal bleeding, Reticulocytosis, Impa... |
OMIM:210250 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Enchondroma, Raynaud phenomeno... |
ORPHA:51 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... |
ORPHA:444013 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Retinal telangiectasia, Esophageal varix, Portal hypertension, Pancytopenia, Gastrointestinal hem... |
OMIM:617341 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ventricular tachyca... |
OMIM:212138 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Diarrhea, Esophageal varix, Poor appetite, Jaundice, Elevated hepatic transaminase,... |
ORPHA:88673 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Gastroesophageal reflux, Hepatomegaly, Periportal fibrosis, Necrotizing ... |
OMIM:201475 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis |
OMIM:612336 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Melena, Lymphopenia, Abdominal pain, Abnormal bleeding, Leu... |
ORPHA:319218 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Hepatomegaly, Hyposegmentation of neutrophil nuclei, Pancytopeni... |
ORPHA:75564 |
Harderoporphyria |
|
Increased urine harderoporphyrin level, Hepatomegaly, Splenomegaly, Increased urinary porphobilin... |
OMIM:618892 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, 3-Methylglutaric aciduria, Vomiting, Skeletal muscle atrophy, Abnormal heart morpho... |
ORPHA:26791 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, EMG: myopathic abnormalities, Heart murmur, Ragged-red muscle fiber... |
OMIM:615418 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Thrombocytopenia 1 |
|
Joint hemorrhage, Petechiae, Increased circulating IgA level, Bruising susceptibility, Eczema, Co... |
OMIM:313900 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:600903 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... |
ORPHA:2041 |
Wild Type Abeta2M Amyloidosis |
|
Abnormality of the thenar eminence, Macroglossia, Abnormal tendon morphology, Arrhythmia, Arthrit... |
ORPHA:85446 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Omenn Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Dry skin, Abnormal ly... |
ORPHA:39041 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets |
ORPHA:89937 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Retinal hemorrhage, Gingival bleeding, Ecchymosis, Pancytopenia, Bone marrow hypocel... |
ORPHA:88 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Erythema, Myositis, Autoimmune hemolytic anemia,... |
OMIM:619183 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Gastrointestina... |
ORPHA:44890 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy, Myo... |
OMIM:205400 |
Hemophilia B |
|
Joint hemorrhage, Gastrointestinal hemorrhage, Abnormal bleeding, Persistent bleeding after trauma |
OMIM:306900 |
Burkitt Lymphoma |
|
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... |
ORPHA:543 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... |
OMIM:615616 |
Sézary Syndrome |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Dry skin, Lymphoma, Abnormal immunoglobuli... |
ORPHA:3162 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Hemophilia A With Vascular Abnormality |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal hem... |
OMIM:306800 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... |
OMIM:227600 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Bruising suscepti... |
ORPHA:729 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Fusariosis |
|
Keratitis, Maculopapular exanthema, Pneumonia, Skin ulcer, Osteomyelitis, Peritonitis, Arthritis,... |
ORPHA:228119 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Feeding difficulties, Vomiting, Macrocytic anemia... |
ORPHA:2169 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
Kasabach-Merritt Syndrome |
|
Capillary hemangioma, Tufted angioma, Petechiae, Abdominal distention, Abdominal pain, Anemia, He... |
ORPHA:2330 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia |
OMIM:615883 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Pruritus, Splenomegaly |
OMIM:619658 |
Stevens-Johnson Syndrome |
|
Pancreatitis, Dyspareunia, Sudden cardiac death, Diarrhea, Myocardial infarction, Abnormal myocar... |
ORPHA:36426 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Pulmonary hemorrhage, Aortic regurgitation, Macrothrombocytopenia, Neutr... |
OMIM:603585 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Abnormality of thrombocytes, Anemia, Purpura, Asplenia |
ORPHA:3204 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... |
OMIM:115197 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... |
ORPHA:542306 |
3-Methylglutaconic Aciduria, Type Viii |
|
Feeding difficulties, Poor suck, 3-Methylglutaconic aciduria, Neutropenia, Bradycardia |
OMIM:617248 |
Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g... |
OMIM:619172 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Nephrotic syndrome, Pustule, Skin rash, Acute hepatic failure, Lymphocytosis, Interstitial pneumo... |
ORPHA:139402 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Telangiectasia of the skin, Hepatic failure, Subarachnoid hemorrhage, Hematuria, ... |
ORPHA:774 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Muscular dystrophy, Scapular winging, Eosinophilia, Myositis, Lower limb mus... |
OMIM:253600 |
Granulomatosis With Polyangiitis |
|
Angina pectoris, Pancreatitis, Otitis media, Hematuria, Increased inflammatory response, Proteinu... |
ORPHA:900 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Shoulder girdle muscle weakness, EMG: myopathic abnormalities, Palpitation... |
ORPHA:263297 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Hypertension, Anemia |
OMIM:602079 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Osteomalacia, Abnormal bone struc... |
ORPHA:93160 |
Pseudoxanthoma Elasticum |
|
Angina pectoris, Telangiectasia of the skin, Excessive wrinkled skin, Lack of skin elasticity, Su... |
ORPHA:758 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hypogonadotropic hypogon... |
ORPHA:848 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Chronic oral candidiasis, Lymphopenia, Decreased circulatin... |
ORPHA:169160 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:247630 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased circulating IgA level... |
ORPHA:169154 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Chronic mucocutaneous candidia... |
ORPHA:36913 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia, Bruising susceptibility |
OMIM:614200 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Hypokalemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... |
OMIM:179800 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... |
OMIM:606367 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Sudden cardiac death, Polymorp... |
OMIM:115000 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
Eosinophilic Fasciitis |
|
Muscular edema, Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis, Acr... |
ORPHA:3165 |
Noonan Syndrome 8 |
|
Atrial septal defect, Feeding difficulties, Pulmonic stenosis, Left ventricular hypertrophy, Ecze... |
OMIM:615355 |
Polymyositis |
|
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Constipation, Gastroesophagea... |
ORPHA:732 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... |
ORPHA:251274 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Hypocalcemia, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Spl... |
OMIM:259700 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... |
OMIM:615474 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, ST segment depression, Leukocytosis, Left ventricular hypertrophy, Vomiting,... |
ORPHA:90065 |
Hermansky-Pudlak Syndrome 8 |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg... |
OMIM:614077 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly |
ORPHA:1802 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Immunoglobulin A Vasculitis |
|
Urticaria, Vascular skin abnormality, Hematuria, Optic atrophy, Proteinuria, Skin ulcer, Gastroin... |
ORPHA:761 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Anorexia, Pallor, Hepatosplenomegaly, Hemolytic anemia, Distal... |
OMIM:611590 |
Abetalipoproteinemia |
|
Hepatomegaly, Steatorrhea, Vomiting, Fat malabsorption, Reticulocytosis, Cardiomegaly, Hypopigmen... |
ORPHA:14 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Hepatic failure, Maculopapular exanthema, Aplastic anemia, Abnormal electrophysiolo... |
ORPHA:398124 |
Malignant Atrophic Papulosis |
|
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Constrictive pericarditis |
OMIM:602248 |
Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Jaundice, Lymphadenopat... |
ORPHA:167 |
Isolated Succinate-Coq Reductase Deficiency |
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Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... |
ORPHA:3208 |
Immunodeficiency, Common Variable, 7 |
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Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Duodenal ulcer, Iron deficiency anemia, Impaired platelet aggregation, Esophageal ulceration, Gas... |
OMIM:618372 |
Cardiomyopathy, Dilated, 2F |
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Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
African Iron Overload |
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Abnormal heart morphology, Abnormal pancreas morphology, Viral hepatitis, Hepatomegaly, Micronodu... |
ORPHA:139507 |
Genetic Recurrent Myoglobinuria |
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Dark urine, Recurrent myoglobinuria, Type 2 muscle fiber atrophy, Arrhythmia, Myositis, Lower lim... |
ORPHA:99845 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
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Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Autoinflammation With Infantile Enterocolitis |
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Urticaria, Enterocolitis, Skin rash, Splenomegaly, Episodic vomiting, Thrombocytopenia, Feeding d... |
OMIM:616050 |
Craniofaciofrontodigital Syndrome |
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Pyloric stenosis, Ventricular septal defect, Gastrointestinal hemorrhage, Gastrointestinal dysmot... |
ORPHA:363705 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Acute hepatic failure, Diarrhea, Hepatic steatosis, Vomiting, Myoglobinuria, Pigmentary retinopat... |
ORPHA:71212 |
Factor Xiii, B Subunit, Deficiency Of |
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Abnormal umbilical stump bleeding, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding... |
OMIM:613235 |
Hermansky-Pudlak Syndrome 2 |
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Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Gastroesophageal reflu... |
OMIM:608233 |
Microsporidiosis |
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Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormal... |
ORPHA:2552 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
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Joint hemorrhage, Myocardial fibrosis, Hemoperitoneum, Persistent bleeding after trauma, Subcutan... |
ORPHA:465 |
Bleeding Disorder, Platelet-Type, 20 |
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Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
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