Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio, Ocular hypertension |
OMIM:617272 |
Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... |
OMIM:619267 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret... |
ORPHA:179 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... |
OMIM:273800 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio, Ocular hypertension |
OMIM:603383 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... |
OMIM:615888 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Ocular hypertension, Optic atrophy, Macular edema, Retinal... |
ORPHA:209943 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... |
OMIM:614201 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Impaired ... |
ORPHA:849 |
Microphthalmia, Isolated 6 |
|
Microcornea, Retinal fold, Ocular hypertension |
OMIM:613517 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Ocular hy... |
ORPHA:94058 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... |
OMIM:265400 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis |
OMIM:614009 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggregat... |
OMIM:155100 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Ocular hypertension |
OMIM:618880 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Iris hypoperfusion, Retinal vein occlusion, Lens ... |
OMIM:177650 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Epistaxis |
OMIM:609821 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... |
OMIM:187800 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
Bronchopulmonary Dysplasia |
|
Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphys... |
ORPHA:70589 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Ocular hypertension, Optic disc coloboma, Microcornea, Chorioretina... |
OMIM:602499 |
Idiopathic Uveal Effusion Syndrome |
|
Exudative retinal detachment, Retinal fold, Subretinal fluid, Abnormal intraocular pressure |
ORPHA:209956 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation, Intestinal bleeding, Joint hemorrhage, Epistaxis |
OMIM:605735 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Ocular hypertension, Inferior lens subluxation, Abnormal fundu... |
ORPHA:39044 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Juvenile Glaucoma |
|
Optic neuropathy, Ocular hypertension, Abnormality iris morphology, Retinal arterial occlusion, R... |
ORPHA:98977 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Ocul... |
ORPHA:67042 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... |
ORPHA:324604 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Spontaneous neonatal pneumothorax, Intraalveolar phospholipid accumulation, Abnormal pulmonary in... |
ORPHA:217563 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Glaucoma 1, Primary Open Angle, C |
|
Ocular hypertension |
OMIM:601682 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Abnormal dense granule content... |
OMIM:601399 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Giant platelet... |
OMIM:231200 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Fuchs Heterochromic Iridocyclitis |
|
Iris atrophy, Papilledema, Cataract, Optic disc pallor, Retinal perforation, Ocular hypertension,... |
ORPHA:263479 |
Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... |
OMIM:139090 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop... |
OMIM:277480 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Optic nerve dysplasia, Developmental cataract |
OMIM:246000 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Ocular hypertension, Epiretinal membrane, ... |
ORPHA:280921 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Macrothrombocytopenia, Absence o... |
OMIM:187900 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Hypertension, Pulmonary fibrosis |
ORPHA:2111 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Ocular hypertension, Uv... |
ORPHA:98973 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension |
OMIM:156600 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... |
ORPHA:268 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallo... |
OMIM:108900 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Ocular hypertension, Morning... |
OMIM:612109 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy |
ORPHA:335 |
Muscle Filaminopathy |
|
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... |
ORPHA:171445 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Microcornea, Anterior synechiae of ... |
OMIM:269400 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, A... |
OMIM:193400 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggreg... |
OMIM:153670 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation, Epistaxis |
OMIM:614076 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Iris coloboma, Ocular hypertension |
OMIM:610023 |
Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Ectopia lentis, Ocular hypertension |
OMIM:614819 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Ocular hypertension, Hypoplasia of the iris, Anterior synech... |
OMIM:614195 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Hyperostosis Cranialis Interna |
|
Optic atrophy, Facial palsy, Ocular hypertension |
OMIM:144755 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Adams-Oliver Syndrome 5 |
|
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... |
OMIM:616028 |
Truncus Arteriosus |
|
Aortic regurgitation, Atrial septal defect, Tachycardia, Ventricular septal defect, Anomalous ori... |
ORPHA:3384 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Loeffler Endocarditis |
|
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... |
ORPHA:75566 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Posterior polar cataract, Opacification of the corneal stroma, Ocular hypertension |
OMIM:107250 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Microcornea, Posterior synechiae of... |
OMIM:610256 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... |
OMIM:619374 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Ocular hypertension, Vitreous floaters, Vitritis, Reti... |
ORPHA:79098 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Type 2 muscle fibe... |
ORPHA:98915 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Ocular hypertension, Posterior synechiae of the anterior chamber, P... |
OMIM:613195 |
Phacoanaphylactic Uveitis |
|
Ocular hypertension, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morpholog... |
ORPHA:209959 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Ventricular septal defect, Arthrogryposis multiplex congenita, Right ventricular hy... |
OMIM:613404 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, E... |
OMIM:614075 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Aortic val... |
OMIM:267010 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram... |
OMIM:208085 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... |
OMIM:265380 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Epistaxis, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... |
OMIM:603585 |
Congenital Microcoria |
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Ocular hypertension, Developmental cataract, Corneal stromal edema, Iris transillumination defect... |
ORPHA:566 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:300835 |
Retinitis Pigmentosa 60 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Peripartum Cardiomyopathy |
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Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Atrial Fibrillation, Familial, 14 |
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ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Bernard-Soulier Syndrome |
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Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Giant platelets, Decr... |
ORPHA:274 |
Atrial Septal Defect, Ostium Primum Type |
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First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Cirrhotic Cardiomyopathy |
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Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Leukoencephalopathy With Ataxia |
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Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy |
OMIM:615651 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Atelectasis, Recurrent pneumo... |
OMIM:613177 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Hyperaldosteronism, Familial, Type Iv |
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Hypertension |
OMIM:617027 |
Glaucoma 3, Primary Congenital, A |
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Ocular hypertension |
OMIM:231300 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Patent foramen ovale, Proximal muscle weakness in lower limbs, Right ventricular hypertrophy, Atr... |
ORPHA:280633 |
Aortic Arch Interruption |
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Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Mgat2-Cdg |
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Decreased circulating antibody level, Reflex asystolic syncope, Arrhythmia, Decreased circulating... |
ORPHA:79329 |
Dural Sinus Malformation |
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Papilledema, Chemosis, Ocular hypertension |
ORPHA:97339 |
Tako-Tsubo Cardiomyopathy |
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Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Hermansky-Pudlak Syndrome 8 |
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Impaired platelet aggregation, Epistaxis |
OMIM:614077 |
Cardiac Diverticulum |
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Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Moyamoya Disease 6 With Or Without Achalasia |
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Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia |
OMIM:615750 |
Wolfram Syndrome 2 |
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Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Wagro Syndrome |
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Aniridia, Cataract, Corneal opacity, Ocular hypertension |
OMIM:612469 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Hermansky-Pudlak Syndrome 2 |
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Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... |
OMIM:608233 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
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Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm... |
ORPHA:466791 |
Sitosterolemia 1 |
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Giant platelets, Impaired platelet aggregation, Thrombocytopenia |
OMIM:210250 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Iris atrophy, Cataract, Ocular hypertension, Ectopia lentis, Spherophakia, Anterior synechiae of ... |
OMIM:601552 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Impaired platelet aggregation |
OMIM:618372 |
Renal Coloboma Syndrome |
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Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia |
ORPHA:1475 |
Autoerythrocyte Sensitization Syndrome |
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Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Autoimmune thrombocytopenia, ... |
ORPHA:324636 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Recurrent respiratory infections, Facial palsy, Atrial septal defect, Pulmonary arterial hyperten... |
OMIM:620186 |
Musculocontractural Ehlers-Danlos Syndrome |
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Retinal detachment, Astigmatism, Ocular hypertension |
ORPHA:2953 |
Wiskott-Aldrich Syndrome |
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Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Laubry-Pezzi Syndrome |
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Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Facial hypotonia, Ventricular septal defect, Congenital diaphragmatic hernia, Diast... |
OMIM:312870 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Ocular ... |
ORPHA:91500 |
1P31P32 Microdeletion Syndrome |
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Ocular hypertension |
ORPHA:401986 |
Trichorhinophalangeal Syndrome, Type Ii |
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Recurrent respiratory infections, Scapular winging, Bicuspid aortic valve, Myocardial infarction,... |
OMIM:150230 |
Viss Syndrome |
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Atrial septal defect, Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement,... |
OMIM:619472 |
Nail-Patella Syndrome |
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Lester's sign, Abnormal iris pigmentation, Antecubital pterygium, Ocular hypertension |
ORPHA:2614 |
Chédiak-Higashi Syndrome |
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Epistaxis, Increased proportion of CD25+ mast cells, Abnormal platelet function, Abnormality of n... |
ORPHA:167 |
Pseudohypoparathyroidism Type 1A |
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Prolonged QT interval, Hypertension, Abnormal platelet function |
ORPHA:79443 |
Bartter Syndrome, Type 2, Antenatal |
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Impaired platelet aggregation, Low-to-normal blood pressure |
OMIM:241200 |
Familial Bicuspid Aortic Valve |
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Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... |
ORPHA:402075 |
Noonan Syndrome |
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Arrhythmia, Abnormal platelet function |
ORPHA:648 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Ocular hypertension |
OMIM:610199 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Ocular hypertension |
ORPHA:93315 |
Leukocyte Adhesion Deficiency |
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Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired neutrophil chemotaxis... |
ORPHA:2968 |