Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Intellectual Developmental Disorder, Autosomal Recessive 59 |
|
Aggressive behavior |
OMIM:617323 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis... |
OMIM:178600 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... |
OMIM:613255 |
Intellectual Developmental Disorder, Autosomal Recessive 52 |
|
Aggressive behavior |
OMIM:616887 |
Semantic Dementia |
|
Abulia, Dementia |
ORPHA:100069 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... |
ORPHA:280397 |
Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety |
OMIM:300387 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations, Elevated pulmonary artery p... |
ORPHA:275766 |
Persistent Idiopathic Facial Pain |
|
Depression, Anxiety |
ORPHA:398147 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Unroofed coronary sinus, Anomalous pulmonary venous return, Systolic... |
ORPHA:99104 |
Microcephaly 9, Primary, Autosomal Recessive |
|
Impulsivity, Aggressive behavior |
OMIM:614852 |
Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... |
OMIM:615344 |
Pulmonary Hypertension, Primary, 3 |
|
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... |
OMIM:615343 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Systolic heart... |
ORPHA:99103 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Abno... |
OMIM:265450 |
Pulmonary Hypertension, Primary, 2 |
|
Pulmonary arterial hypertension, Abnormally loud pulmonic component of the second heart sound, In... |
OMIM:615342 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... |
OMIM:234810 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Usual interstitial pneumonia, Decreased DLCO, Cough, Exertional dyspnea,... |
OMIM:178500 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascul... |
ORPHA:422 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Hepatomegaly, Chronic pulmonary obstruction, Tricuspid re... |
ORPHA:2414 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Epilepsy, Nocturnal Frontal Lobe, 5 |
|
Depression, Personality disorder, Aggressive behavior, Cognitive impairment |
OMIM:615005 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular hypertrophy, Right ventricular failure, Syncope, Exertional dy... |
OMIM:265400 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Reduced FEV1/FVC ratio, Abnormal left ventricular function, Abnormal T-wave, Reduc... |
ORPHA:70591 |
Brunner Syndrome |
|
Self-injurious behavior, Impulsivity, Aggressive behavior, Low frustration tolerance |
OMIM:300615 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... |
ORPHA:99105 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Hypoxemia, Respiratory failure, Oxygen desaturation on exertion, Interlobular septa... |
ORPHA:60025 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Depression, Aggressive behavior |
OMIM:603204 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia |
OMIM:616428 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... |
ORPHA:217607 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Hypertension, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Chorea, Benign Hereditary |
|
Anxiety |
OMIM:118700 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... |
ORPHA:2041 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Pulmonary embolism, Cerebral ischemia |
ORPHA:3325 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Anophthalmia, Bicornuate uterus, Microphthalmia |
OMIM:615524 |
Frontotemporal Dementia |
|
Apathy, Inappropriate sexual behavior, Frontotemporal dementia, Frontal lobe dementia, Disinhibit... |
OMIM:600274 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension |
ORPHA:1164 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomegal... |
OMIM:612387 |
Eisenmenger Syndrome |
|
Respiratory distress, Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Atrioventricula... |
ORPHA:97214 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, R... |
ORPHA:563 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent... |
OMIM:106700 |
Creutzfeldt-Jakob Disease |
|
Apathy, Depression, Anxiety, Memory impairment, Irritability, Dementia |
OMIM:123400 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Cardiomyopathy |
OMIM:619003 |
Pick Disease Of Brain |
|
Apathy, Frontotemporal dementia, Emotional blunting, Disinhibition, Inappropriate laughter, Dimin... |
OMIM:172700 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Left atrial enlargement, Right bundle branch block, At... |
ORPHA:99106 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension |
OMIM:152900 |
Limited Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Pulmonary arterial hypertension, Mucosal telangiectasiae, Pulmonary f... |
ORPHA:220402 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Bacterial endocarditis, Hemothorax, Pleural empyema, Cyanosis, Pulmonary hemorrha... |
ORPHA:2038 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Hypertension, Pulmonary ar... |
OMIM:613355 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Dementia |
OMIM:615483 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Anxiety |
ORPHA:494541 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Right ventricular hypertrophy, Interstitial pneumonitis, Intraalveolar phospholipid accumulation,... |
ORPHA:217563 |
Microphthalmia, Syndromic 5 |
|
Micropenis, Optic nerve hypoplasia, Anophthalmia, Microcornea, Ectopic posterior pituitary, Catar... |
OMIM:610125 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Retinal coloboma, Cataract, Microphthalmia, Cryptorchidism, Hypogona... |
ORPHA:363741 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Pneumot... |
ORPHA:70588 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... |
ORPHA:99095 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... |
ORPHA:412066 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:614475 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Pulmonary arterial hypertension, Congestive heart failure |
OMIM:619751 |
Myoclonus-Dystonia Syndrome |
|
Depression, Personality disorder, Anxiety, Panic attack |
ORPHA:36899 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension |
OMIM:614651 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... |
OMIM:265120 |
Dystonia 11, Myoclonic |
|
Depression, Agoraphobia, Anxiety |
OMIM:159900 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Elevated pulmonary artery pressure |
OMIM:178400 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Retinal coloboma, Cataract, Microphthalmia, Cryptorchidism, Hypogonadism |
OMIM:601794 |
Microphthalmia With Brain And Digit Anomalies |
|
Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Microcornea, Iris coloboma, Catarac... |
ORPHA:139471 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Cyanosis, Right ventricul... |
ORPHA:199241 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Vasculitis, Cerebral ischemia, Myo... |
ORPHA:3287 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Atrioventricular Septal Defect 3 |
|
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Cyan... |
OMIM:600309 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Sclerocornea, Microphthalmia |
OMIM:611038 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Memory impairment |
ORPHA:401901 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Huntington Disease-Like 2 |
|
Apathy, Depression, Anxiety, Irritability, Dementia |
OMIM:606438 |
Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia |
OMIM:613094 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... |
OMIM:613426 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... |
ORPHA:168782 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Micropenis |
OMIM:610156 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Reduced left ventricular ejection frac... |
ORPHA:980 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Left ventricular outflow tract obstruction, Left-to... |
ORPHA:99050 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:164180 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Hypogonadism |
ORPHA:2815 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Huntington Disease-Like 1 |
|
Depression, Anxiety, Aggressive behavior, Dementia |
OMIM:603218 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia... |
ORPHA:95430 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, Right ventricular hypert... |
OMIM:613623 |
Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Pulmonary embolism, Vasculitis, Cough, Cardiorespiratory arrest, Dyspn... |
ORPHA:228116 |
Antisynthetase Syndrome |
|
Telangiectasia of the skin, Respiratory insufficiency, Myocarditis, Cough, Abnormal pulmonary int... |
ORPHA:81 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... |
OMIM:619051 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... |
OMIM:615113 |
Scimitar Syndrome |
|
Respiratory distress, Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous retu... |
ORPHA:185 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Epilepsy, Progressive Myoclonic, 12 |
|
Depression, Anxiety, Mental deterioration |
OMIM:619191 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... |
OMIM:608406 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Pulmonary edema, Third heart sound, Left ventricular dias... |
ORPHA:57777 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... |
ORPHA:1457 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia |
OMIM:604219 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating... |
OMIM:240950 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:612336 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract, Microphthalmia |
OMIM:610092 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... |
ORPHA:91349 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microphthalmia, Microcornea, Hypogonadism |
ORPHA:2528 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Yellow Nail Syndrome |
|
Sinusitis, Rhinitis, Neoplasm of the lung, Cough, Pleuritis, Bronchiectasis, Dyspnea, Pulmonary a... |
ORPHA:662 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Pulmonary venous hypertension, Abnormal left ventricular function, R... |
ORPHA:75249 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism |
ORPHA:1381 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Anophthalmia, Iris coloboma, Microphthalmia, Cryptorchidism, Sc... |
ORPHA:77298 |
Keutel Syndrome |
|
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp... |
ORPHA:85202 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Gaucher Disease, Type I |
|
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Abnormal pulmonary inter... |
OMIM:230800 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Depression, Anxiety, Dementia |
OMIM:605909 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Right ... |
ORPHA:70589 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... |
ORPHA:91348 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... |
ORPHA:85327 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma, Microp... |
ORPHA:231736 |
Trisomy 13 |
|
Anophthalmia, Abnormal morphology of female internal genitalia, Optic atrophy, Iris coloboma, Cat... |
ORPHA:3378 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Juvenile cataract, Male hypogonadism, Macroorchidism |
OMIM:300055 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... |
OMIM:615474 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Walker-Warburg Syndrome |
|
Corneal opacity, Hypoplasia of penis, Retinal detachment, Anophthalmia, Microcornea, Optic atroph... |
ORPHA:899 |
Morm Syndrome |
|
Cataract, Retinal atrophy, Micropenis |
ORPHA:75858 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... |
ORPHA:8 |
Polyembryoma |
|
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... |
ORPHA:180229 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension |
OMIM:619059 |
Braddock Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary fibrosis |
ORPHA:52047 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Hypertensive crisis, Dyspnea, Pulmonary arterial hypertension, Pulmon... |
ORPHA:220393 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly, Tachypnea |
OMIM:613320 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... |
OMIM:309300 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy |
OMIM:616171 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Sleep apnea, Pulmonary arterial hypertension, Congestive heart failure, Central apnea |
OMIM:616482 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent upper respiratory tract infections, Pulmonary arterial hypertension, Abnormal heart mor... |
ORPHA:391372 |
Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... |
ORPHA:774 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia, Retinal detachment, Iris coloboma, Cataract, Macular atrophy |
OMIM:212550 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Iris coloboma, Unilateral microphthalmos, Macroorchidism |
OMIM:618874 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Abnormal heart valve physiology, Pulmonary embolism, Myocarditis, Myocardial inf... |
ORPHA:464343 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract |
ORPHA:2489 |
Cataract 11, Multiple Types |
|
Cataract, Microphthalmia |
OMIM:610623 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypert... |
OMIM:607015 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... |
OMIM:616028 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Cerebral hemorrhage, Hypotension |
OMIM:263400 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Ventricular septal defect, Second degree atrioventricular block, Ventric... |
ORPHA:369929 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Hypospadias, Ectopia pupillae, Anophthalmia, Microcornea, Cataract, Microphth... |
OMIM:615877 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... |
OMIM:600376 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Tachypnea, Hypoperistalsis, Pulmonary artery dilatation, Patent ductus arte... |
OMIM:613834 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Mitral ... |
ORPHA:363705 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality of the uterus, Mi... |
ORPHA:2470 |
Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Anophthalmia, Iris coloboma, Cataract, Micropht... |
ORPHA:2250 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Ventricular septal defect, P... |
OMIM:608149 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... |
OMIM:187300 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Tachypnea |
OMIM:614857 |
Coats Disease |
|
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment |
ORPHA:190 |
Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Cataract, Developmental cataract |
OMIM:619420 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Heart murmur, Pulmonary hypoplasia, Pulmonary arterial hypertensi... |
ORPHA:3309 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary valve atresia, Bicuspid aortic valve, Aortic valve stenosis, Atri... |
ORPHA:210122 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Increased pulmonary capillary wedge pressure, Low pulse press... |
ORPHA:97292 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Developmental cataract, Male hypogonadism, Cryptorchidism, Conjunctivitis |
ORPHA:90322 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Right ventricular outlet tract obstruction, Left ventricular hypertrophy, ... |
ORPHA:99094 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism |
OMIM:616030 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, ... |
ORPHA:2519 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... |
ORPHA:1473 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... |
ORPHA:2410 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Apn... |
ORPHA:99125 |
Familial Thrombocytosis |
|
Splenomegaly, Cerebral ischemia, Syncope, Transient ischemic attack, Pulmonary arterial hypertension |
ORPHA:71493 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Wagr Syndrome |
|
Ambiguous genitalia, Cataract, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypop... |
ORPHA:893 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Abnormality of retinal pigmenta... |
ORPHA:791 |
Overlap Myositis |
|
Raynaud phenomenon, Abnormal pulmonary interstitial morphology, Hypertension, Pulmonary arterial ... |
ORPHA:206572 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Splenomegaly, Myocarditis, Abnormal pulmonary interstitial morphology, Pleuritis, G... |
ORPHA:809 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Hydrolethalus |
|
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:2189 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Atrial septal defect, Respiratory insufficiency, Pulmonary embolism, Patent ductus ... |
ORPHA:90308 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Right ventricular hypertrophy, Respiratory insufficiency, Recu... |
ORPHA:98915 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation, Hypergonadotrop... |
ORPHA:3085 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Optic nerve hypoplas... |
OMIM:206900 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Male pseudohermaphrod... |
ORPHA:90790 |
Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Corneal opacity, Microphthalmia, Shallow anterior chambe... |
ORPHA:91495 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hepatomegaly, Subpleural interstitial thickening, Hypoxemia, Rayna... |
ORPHA:79128 |
Aniridia-Absent Patella Syndrome |
|
Cryptorchidism, Aniridia, Cataract |
ORPHA:1069 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:613845 |
Scleroderma |
|
Transient ischemic attack, Intestinal bleeding, Raynaud phenomenon, Right ventricular failure, My... |
ORPHA:801 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... |
ORPHA:562 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea |
OMIM:269400 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Macular atrophy |
OMIM:618220 |
Geleophysic Dysplasia 2 |
|
Mitral stenosis, Aortic valve stenosis, Hepatomegaly, Tricuspid stenosis, Mitral regurgitation, R... |
OMIM:614185 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Asthma, Abnormal cardiac septum morphology, Atrial septal defect, Recurrent... |
ORPHA:209905 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Pulmonary arterial hypertension |
ORPHA:447980 |
Systemic Sclerosis |
|
Telangiectasia, Intestinal bleeding, Raynaud phenomenon, Right ventricular failure, Myocarditis, ... |
ORPHA:90291 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration |
OMIM:618195 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Aniridia, Ectopia lentis, Cataract |
ORPHA:1068 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Sudden cardiac death, Tachycardia, Cardiomegaly, Ventricular septal defect, Dilated... |
OMIM:614921 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Cataract, Pigmentary retinopathy, Hypogonadism |
OMIM:268050 |
Diffuse Alveolar Hemorrhage |
|
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Irregular septal thickening on... |
ORPHA:90060 |
Poems Syndrome |
|
Visceromegaly, Pleural effusion, Restrictive ventilatory defect, Pulmonary arterial hypertension,... |
ORPHA:2905 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:215600 |
Dermatomyositis |
|
Telangiectasia of the skin, Lung adenocarcinoma, Sinus tachycardia, Recurrent respiratory infecti... |
ORPHA:221 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... |
OMIM:616425 |
Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Pulmonary artery atresia, Portal hypert... |
ORPHA:974 |
Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Hypoplasia of penis |
ORPHA:66625 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Abnormal heart morphology, Airway obstruction, Atrial septal defect, Tricus... |
ORPHA:505248 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Hypergonadotropic hyp... |
ORPHA:91 |
Meckel Syndrome |
|
Urethral atresia, Pancreatic fibrosis, Male pseudohermaphroditism, Anophthalmia, Microcornea, Opt... |
ORPHA:564 |
Dystonia 26, Myoclonic |
|
Depression, Anxiety |
OMIM:616398 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial morphology, Abnormal myocardium morph... |
ORPHA:77259 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... |
ORPHA:83461 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Dyspnea, Pulmonary arterial hypertension, Patent ductus arteriosus, Atrial septal defect |
ORPHA:261279 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Arrhythmia, Recurrent lower respiratory tract infections, Reduced left... |
ORPHA:258 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lens subluxation, Cataract |
OMIM:614292 |
Trisomy 1Q |
|
Ambiguous genitalia, Cryptorchidism, Anophthalmia, Small scrotum |
ORPHA:261344 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Cataract |
OMIM:613730 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... |
OMIM:265380 |
Spastic Paraplegia Type 2 |
|
Pulmonary embolism, Recurrent respiratory infections |
ORPHA:99015 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension |
OMIM:259420 |
Anophthalmia Plus Syndrome |
|
Iris coloboma, Anophthalmia |
ORPHA:1104 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism |
ORPHA:745 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcification, Abnormal pulm... |
ORPHA:77261 |
Warburg Micro Syndrome 2 |
|
Hypoplastic labia majora, Micropenis, Microcornea, Optic atrophy, Cataract, Developmental catarac... |
OMIM:614225 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Microphthalmia |
OMIM:120433 |
Mucopolysaccharidosis, Type Vi |
|
Mitral stenosis, Sleep apnea, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Mitral regurgi... |
OMIM:253200 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc pallor, Cataract, Microphthalmia |
OMIM:251270 |
Schimke Immunoosseous Dysplasia |
|
Cerebral ischemia, Dyspnea, Transient ischemic attack, Pulmonary arterial hypertension, Hypertension |
OMIM:242900 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomegal... |
OMIM:181000 |
Cockayne Syndrome Type 1 |
|
Anophthalmia, Pigmentary retinopathy, Optic atrophy, Cataract, Male hypogonadism, Cryptorchidism,... |
ORPHA:90321 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Iris coloboma, Cataract, Displacement of the uret... |
ORPHA:2377 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Megalocornea, Anophthalmia, Corneal dystrophy, Cryptorchidism, Aniridia |
ORPHA:1101 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Peters anomaly, Mi... |
OMIM:120200 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... |
OMIM:602782 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Secundum atrial septal defect, Splenomegaly, Pulmonic stenosis, Mitral regurgitatio... |
OMIM:612541 |
Schimke Immuno-Osseous Dysplasia |
|
Cerebral ischemia, Ischemic stroke, Hypertension, Transient ischemic attack, Pulmonary arterial h... |
ORPHA:1830 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Retinal detachment, Cataract |
ORPHA:90654 |
Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Anophthalmia, Anterior hypopituitarism, Mi... |
OMIM:147250 |
Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Splenomegaly, Res... |
ORPHA:729 |
Warburg Micro Syndrome 3 |
|
Shallow anterior chamber, Micropenis, Microcornea, Optic atrophy, Hypoplastic labia minora, Catar... |
OMIM:614222 |
Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary a... |
ORPHA:231222 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Cataract, Microcornea |
OMIM:106230 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Increased pi... |
ORPHA:90674 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Microphthalmia, Poste... |
OMIM:610256 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
OMIM:257910 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Cataract, Hypogonadism |
OMIM:160900 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Trisomy 20P |
|
Hypospadias, Cryptorchidism, Macroorchidism |
ORPHA:261318 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Micropenis, Cataract, Developmental cataract, Microphthalmia, Small scrotum |
OMIM:610756 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism |
ORPHA:743 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Hypoxemia, Pulmonary arterial hypertension, Patent ductus arteriosus, Recurrent respiratory infec... |
ORPHA:2282 |
3Q29 Microdeletion Syndrome |
|
Subvalvular aortic stenosis, Pulmonary arterial hypertension, Patent ductus arteriosus |
ORPHA:65286 |
Isolated Aniridia |
|
Peters anomaly, Aniridia, Aplasia/Hypoplasia of the macula, Cataract |
ORPHA:250923 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:261534 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Pulmo... |
OMIM:100300 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Microcornea, Abnormal fallopian tube morphology, Microphthalmia, Cryptorchidism |
ORPHA:3412 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Pigmentary retinopathy, Hypothyroidism, Optic atrophy, Cataract, Diabetes mel... |
OMIM:222300 |
Nestor-Guillermo Progeria Syndrome |
|
Right atrial enlargement, Mitral regurgitation, Left atrial enlargement, Right bundle branch bloc... |
OMIM:614008 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Neona... |
OMIM:620025 |
X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Double outlet right ventricle, Peripheral pulmonary artery stenosis, Tetralogy o... |
ORPHA:163956 |
Hereditary Bullous Dystrophy, Macular Type |
|
Corneal opacity, External genital hypoplasia, Cataract, Decreased testicular size, Cryptorchidism |
ORPHA:1867 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Microphthalmia, Abnormal penis morphology, ... |
ORPHA:2556 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Cataract, Corneal guttata |
OMIM:193230 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hemothorax, Myocarditis, Bundle branch... |
ORPHA:99827 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia |
ORPHA:624 |
Fg Syndrome Type 1 |
|
Mitral valve prolapse, Pulmonary arterial hypertension, Atrial septal defect |
ORPHA:93932 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Anophthalmia, Bilateral microphthalmos, Cryptorchidism |
OMIM:601186 |
Glycogen Storage Disease Ic |
|
Hypertension, Pulmonary arterial hypertension, Hepatomegaly, Spider hemangioma |
OMIM:232240 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Small scrotum, Abnormality of the hypothalamus-pituitary axis, Anophthalmia,... |
ORPHA:264200 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
Hallermann-Streiff Syndrome |
|
Tracheomalacia, Recurrent pneumonia, Hypertension, Telangiectasia, Pulmonary arterial hypertensio... |
OMIM:234100 |
Melas |
|
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
ORPHA:550 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Atrial septal defect, Respiratory insufficiency, Chronic lun... |
OMIM:620005 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Respiratory failure requiring assisted ventilation, Pulmonary... |
OMIM:619351 |
Ogden Syndrome |
|
Apnea, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly, Torsade de... |
OMIM:300855 |
Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
Microgastria-Limb Reduction Defects Association |
|
Bicornuate uterus, Splenogonadal fusion, Anophthalmia, Absent gallbladder, Cryptorchidism |
OMIM:156810 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, Recurrent pneum... |
ORPHA:464738 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Retinal hemorrhage, Cerebral ischemia, Pulmonary arterial hypertensio... |
ORPHA:464 |
Leber Congenital Amaurosis 8 |
|
Nummular pigmentation of the fundus, Pigmentary retinopathy, Keratoconus, Cataract, Macular coloboma |
OMIM:613835 |
Carey-Fineman-Ziter Syndrome 1 |
|
Abnormal cardiac septum morphology, Respiratory insufficiency, Pulmonary arterial hypertension |
OMIM:254940 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Subdural hemorrhage, Pulmonary embolism, Dilated cardiomyopathy, Pulmonary ... |
ORPHA:79282 |
Marshall-Smith Syndrome |
|
Apnea, Airway obstruction, Atrial septal defect, Premature ventricular contraction, Aspiration pn... |
OMIM:602535 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Apnea, Hepatomegaly, Splenomegaly, Chronic rhinitis, Pulmona... |
ORPHA:667 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Retinal coloboma, Clitoral hypoplasia, ... |
ORPHA:2510 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Respiratory insufficiency, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pu... |
OMIM:601559 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Vaginal neoplasm, Cataract, Uterine leiomyoma, Uterine leiomyosarcoma |
ORPHA:523 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Micropenis, Optic nerve hy... |
OMIM:610829 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Hepatosplenomegaly, Recurrent upper respiratory tract infections, Renovascular hypertension, Pate... |
ORPHA:391487 |
15Q Overgrowth Syndrome |
|
Mitral regurgitation, Pulmonary arterial hypertension, Tricuspid regurgitation |
ORPHA:314585 |
Nance-Horan Syndrome |
|
Retinal detachment, Cataract, Microcornea, Microphthalmia |
ORPHA:627 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Budd-Chiari syndrome, Pulmonary embolism, Hepatomegaly, Pneumonia |
OMIM:226300 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Chromosome Xp11.3 Deletion Syndrome |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Optic atrophy, Cataract, Cryptorchidism |
OMIM:300578 |
Holoprosencephaly |
|
Microphthalmia, Hypoplasia of penis, Panhypopituitarism, Anophthalmia, Anterior hypopituitarism, ... |
ORPHA:2162 |
Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Remnants of the hyaloid vascular system, Hypospadias, Retinal detachment, ... |
OMIM:300166 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Right ventricular hypertrophy, Recurr... |
ORPHA:280633 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Abnormal mitral valve morphology, Myocardial infarction, Ventricular hypertrophy... |
ORPHA:740 |
Gaucher Disease |
|
Aortic valve calcification, Hepatomegaly, Abnormal pericardium morphology, Splenomegaly, Respirat... |
ORPHA:355 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrial septal defect, Atrioventricular canal defect, Third degree atrioventricular ... |
OMIM:619573 |
Cerebrooculonasal Syndrome |
|
Optic nerve hypoplasia, Iris coloboma, Anophthalmia, Hypoplastic male external genitalia |
OMIM:605627 |
Proboscis Lateralis |
|
Corneal opacity, External genital hypoplasia, Optic nerve hypoplasia, Anophthalmia, Microcornea, ... |
ORPHA:141099 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Hepatomegaly, Tricuspid regurgitation, Right ventricular hypertrophy, A... |
ORPHA:1677 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal heart morphology, Asthma, Sleep apnea, Tracheomalacia, Aspiration pneumonia, Chronic lun... |
ORPHA:444077 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microcornea, Optic atrophy, Iris coloboma, Cataract, Septo-optic dysplasia, Microphthalmia, Vagin... |
ORPHA:3301 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Ovarian neoplasm, Central heterochromia, Buphthalmos, Neopla... |
ORPHA:744 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Kapur-Toriello Syndrome |
|
Micropenis, Retinal coloboma, Iris coloboma, Cataract, Microphthalmia, Cryptorchidism, Hypoplasti... |
OMIM:244300 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Aortic valve calcification, Splenomegaly, Hepatosplenomegaly, Mitral valv... |
ORPHA:2072 |
Encephalocraniocutaneous Lipomatosis |
|
Tricuspid valve prolapse, Pulmonary arterial hypertension, Aortic valve stenosis |
ORPHA:2396 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Uveal ectropion, Ret... |
OMIM:609049 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system |
OMIM:165550 |
Charge Syndrome |
|
Labial hypoplasia, Micropenis, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormality of the a... |
ORPHA:138 |
Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Mitral valve prolapse, Pulmonary arterial hypertension, Recurrent respi... |
OMIM:309350 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Cataract, Leukocoria |
ORPHA:2714 |
Lysosomal Acid Lipase Deficiency |
|
Hypovolemia, Hepatosplenomegaly, Pulmonary arterial hypertension, Hypotension |
ORPHA:275761 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid regurgitation, Tricuspid stenosis, Pulmonic ste... |
OMIM:143095 |
Degcags Syndrome |
|
Asthma, Rhinitis, Hepatomegaly, Atrial septal defect, Tracheomalacia, Pulmonic stenosis, Dysplast... |
OMIM:619488 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Tricuspid regurgitation, Left ventricular hypertroph... |
OMIM:612289 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Respiratory tract infection |
ORPHA:567548 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment, Anophthalmia, Optic atrophy, Cataract, M... |
ORPHA:2526 |
Aniridia 1 |
|
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... |
OMIM:106210 |
Schwartz-Jampel Syndrome |
|
Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Arrhythmia |
ORPHA:800 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, Cardiac ... |
OMIM:619534 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Cat... |
OMIM:157640 |
Fraser Syndrome |
|
Abnormal vagina morphology, Urethral atresia, Hypoplasia of penis, Bicornuate uterus, Hypospadias... |
ORPHA:2052 |
Fraser Syndrome 1 |
|
Corneal opacity, Bicornuate uterus, Micropenis, Hypospadias, Anophthalmia, Abnormality of the thy... |
OMIM:219000 |
Ctcf-Related Neurodevelopmental Disorder |
|
Atrial septal defect, Mitral regurgitation, Pulmonary hemorrhage, Chronic lung disease, Recurrent... |
ORPHA:363611 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... |
OMIM:614643 |
Xeroderma Pigmentosum, Complementation Group B |
|
Pigmentary retinopathy, Optic atrophy, Cataract, Microphthalmia, Hypogonadism |
OMIM:610651 |
Oculoauricular Syndrome |
|
Microphakia, Microphthalmia, Retinal coloboma, Retinal detachment, Posterior embryotoxon, Microco... |
OMIM:612109 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Macroorchidism |
OMIM:619950 |
Charge Syndrome |
|
Hypoparathyroidism, Labial hypoplasia, Microphthalmia, External genital hypoplasia, Decreased res... |
OMIM:214800 |
Fibular Hemimelia |
|
Abnormal anterior chamber morphology, Anophthalmia |
ORPHA:93323 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Weak pulse, Retinal hemorrhage, Pericardial effusion, Left ventri... |
ORPHA:51608 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Microcoria, Cataract |
OMIM:263100 |
Focal Dermal Hypoplasia |
|
Labial hypoplasia, Supernumerary nipple, Anophthalmia, Clitoral hypoplasia, Hypoplastic nipples, ... |
OMIM:305600 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Hepatomegaly, Obstructive sleep apnea |
ORPHA:2785 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Pulmonary arteriovenous malformation, Spontaneous pneumothorax, Pleural ... |
OMIM:606721 |
Microphthalmia, Syndromic 6 |
|
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Anterior hypopituit... |
OMIM:607932 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Corneal opacity, Cataract, Decreased testicular size, Hypoplastic female external genitalia, Anir... |
OMIM:612469 |
Juvenile Polyposis Syndrome |
|
Mucosal telangiectasiae, Extrahepatic portal hypertension, Pulmonary arteriovenous malformation, ... |
ORPHA:2929 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Atrial septal defect, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Ventricular ... |
ORPHA:96334 |
Blau Syndrome |
|
Splenomegaly, Large vessel vasculitis, Dyspnea, Pericarditis, Pulmonary arterial hypertension, Hy... |
ORPHA:90340 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Decreased circulating aldosterone level, Adrenal insufficienc... |
OMIM:240300 |
Norrie Disease |
|
Remnants of the hyaloid vascular system, Corneal opacity, Microphthalmia, Abnormal pupil morpholo... |
ORPHA:649 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Corneal opacity, Buphthalmos, Optic nerve hypoplasia, Retinal detachment, Megalocornea, Optic atr... |
OMIM:236670 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Yunis-Varon Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Renovascular hypertension, Ventricular septal defect, ... |
ORPHA:3472 |
Microgastria-Limb Reduction Defect Syndrome |
|
Rectovaginal fistula, Anophthalmia, Perineal fistula, Microphthalmia |
ORPHA:2538 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Respiratory tract infection, Pleural effusion, Dyspnea, Hypertension |
ORPHA:567546 |
Tetrasomy 9P |
|
Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Raynaud phenomenon, Dextroc... |
ORPHA:3310 |
Cog1-Cdg |
|
Hepatosplenomegaly, Pulmonary arterial hypertension, Atrial septal dilatation |
ORPHA:263508 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract |
OMIM:116800 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Hypertrophic cardiomyopathy, Pulmonic stenosis, Renovascular hyperten... |
ORPHA:97685 |
Aspartylglucosaminuria |
|
Cataract, Macroorchidism |
OMIM:208400 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Pigmentary retinopathy, Pe... |
OMIM:309801 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Asthma, Supraventricular arrhythmia, Vasculitis in the skin, Raynaud phenom... |
ORPHA:3260 |
Viss Syndrome |
|
Double outlet right ventricle, Asthma, Atrial septal defect, Right ventricular hypertrophy, Pulmo... |
OMIM:619472 |
Branchiooculofacial Syndrome |
|
Supernumerary nipple, Retinal coloboma, Hypospadias, Anophthalmia, Iris coloboma, Cataract, Micro... |
OMIM:113620 |
48,Xxxy Syndrome |
|
Asthma, Pulmonary embolism, Recurrent respiratory infections |
ORPHA:96263 |
49,Xxxxy Syndrome |
|
Asthma, Pulmonary embolism, Recurrent respiratory infections |
ORPHA:96264 |
Behçet Disease |
|
Splenomegaly, Mitral regurgitation, Pulmonary embolism, Endocarditis, Vasculitis, Cerebral ischem... |
ORPHA:117 |
Bosma Arhinia Microphthalmia Syndrome |
|
Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Primary amenorrhea, Cataract, Microphthal... |
OMIM:603457 |
Microphthalmia With Limb Anomalies |
|
Optic atrophy, Cryptorchidism, True anophthalmia, Microphthalmia |
ORPHA:1106 |
Classic Homocystinuria |
|
Hepatomegaly, Intracranial hemorrhage, Pulmonary embolism, Cerebral ischemia, Gastrointestinal he... |
ORPHA:394 |
Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Temporal optic disc pallor, Cataract, Anisocoria |
OMIM:619649 |
Angioosteohypertrophic Syndrome |
|
Tricuspid valve prolapse, Telangiectasia of the skin, Pulmonary embolism, Gastrointestinal hemorr... |
ORPHA:2346 |
Dehydrated Hereditary Stomatocytosis |
|
Pulmonary venous hypertension, Splenomegaly |
ORPHA:3202 |
Neuroleptic Malignant Syndrome |
|
Aspiration pneumonia, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Hypertensive cris... |
ORPHA:94093 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Pulmonary embolism |
ORPHA:3205 |
Aspartylglucosaminuria |
|
Macroorchidism |
ORPHA:93 |
Microphthalmia, Syndromic 1 |
|
Hypospadias, Anophthalmia, Microcornea, Optic disc coloboma, Iris coloboma, Microphthalmia, Cilia... |
OMIM:309800 |
Familial Chylomicronemia Syndrome |
|
Hepatosplenomegaly, Pulmonary embolism |
ORPHA:444490 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Yunis-Varon Syndrome |
|
Aspiration pneumonia, Tetralogy of Fallot, Heart murmur, Ventricular septal defect, Patent forame... |
OMIM:216340 |
Tetraamelia Syndrome 1 |
|
Urethral atresia, Absent external genitalia, Hypoplasia of the fallopian tube, Cataract, Micropht... |
OMIM:273395 |
Alström Syndrome |
|
Respiratory distress, Myocardial fibrosis, Hepatomegaly, Chronic pulmonary obstruction, Chronic b... |
ORPHA:64 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Hypoplasia of the fovea, Mic... |
OMIM:619539 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... |
ORPHA:273 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism |
ORPHA:3063 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Hepatomegaly, Enlarged kidney, Hypertension, Epistaxis |
ORPHA:79259 |
Neurofibromatosis Type 2 |
|
Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract |
ORPHA:637 |
Paroxysmal Nocturnal Hemoglobinuria |
|