| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... |
OMIM:611556 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... |
OMIM:273800 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... |
ORPHA:85435 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Left ventricular diastolic dysfunction, Fat... |
ORPHA:171445 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
| Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recu... |
ORPHA:36382 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Osteochondritis Dissecans |
|
Abnormality of the knee, Decreased hip abduction, Joint stiffness, Abnormal joint morphology, Lim... |
ORPHA:2764 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Decreased circulating tot... |
OMIM:182410 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Tenosynovial Giant Cell Tumor |
|
Abnormality of the knee, Joint stiffness, Lymphedema, Polyarticular arthropathy, Limitation of jo... |
ORPHA:66627 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva... |
OMIM:178500 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Panner Disease |
|
Limited elbow movement, Abnormality of upper limb joint, Irregular articular surfaces of the elbo... |
ORPHA:97336 |
| Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
| Lyme Disease |
|
Uveitis, Joint swelling, Arthritis, Memory impairment, Infectious encephalitis |
ORPHA:91546 |
| Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
| Osteochondrosis Of The Tarsal Bone |
|
Antalgic gait, Pedal edema, Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal t... |
ORPHA:563991 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
| Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
| Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gam... |
ORPHA:563 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elevated circulating creatine kinase concentration, Congestive heart failure, Quadriceps muscle w... |
ORPHA:206546 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Retinal vascular malformation, Cerebral cavernous malformation |
OMIM:116860 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
| Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Prolonged bleeding after dental extraction, Prolonged bleeding af... |
ORPHA:331 |
| Progressive Pseudorheumatoid Dysplasia |
|
Waddling gait, Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiff... |
OMIM:208230 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... |
ORPHA:3002 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling |
ORPHA:1525 |
| Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... |
ORPHA:2302 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Centrally nucleated ske... |
ORPHA:86812 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
| Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... |
OMIM:300310 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Edema of the dorsum of feet, Sclerosis of foot bone, Joint stif... |
ORPHA:566943 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leukocyto... |
OMIM:618886 |
| Intermittent Hydrarthrosis |
|
Abnormality of the knee, Knee joint hypermobility, Joint swelling, Chondrocalcinosis |
ORPHA:329967 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Epistaxis, Cerebral hemorrhage, Cardiorespi... |
ORPHA:99828 |
| Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after dental extraction, Prolonged bleeding foll... |
ORPHA:325 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Waddling gait, Abnormality of the knee, Enlarged interphalangeal joints, Abnormal circulating C-r... |
ORPHA:1159 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Crackles, Abnormal pleura morphology, Increased circulating ferritin concent... |
ORPHA:210136 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu... |
OMIM:178550 |
| Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Abnorma... |
ORPHA:57777 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e... |
OMIM:540000 |
| Wilson Disease |
|
Aggressive behavior, Hypersexuality, Hepatitis, Depression, Joint swelling, Arthritis, Difficulty... |
ORPHA:905 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy, Optic disc pallor, Drusen |
OMIM:618632 |
| Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
| Sinding-Larsen-Johansson Disease |
|
Painless fractures due to injury, Joint swelling, Osteochondrosis, Limitation of knee mobility |
ORPHA:97337 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration,... |
ORPHA:85414 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Autoimmune thrombocytopenia, Pulmonary embolism, Abnormal onset of bleedin... |
ORPHA:3325 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil coun... |
ORPHA:3226 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
| Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Cerebral hemorrhage, Abnorm... |
ORPHA:53719 |
| Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Pedal edema, Arthritis, Difficulty walking, Progressive ... |
ORPHA:564003 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Increased circula... |
ORPHA:465508 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... |
OMIM:619040 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
| Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Hip contracture, Epidural hemorrhage, Abnormal bleeding, Prolonged b... |
ORPHA:169805 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... |
OMIM:608758 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Elevated circulating C-reactive protein concentratio... |
ORPHA:79126 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Respirator... |
OMIM:613156 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-m... |
OMIM:607616 |
| Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Splenic rupture, Prolonged prothrombin time, Abnormal umbilical s... |
ORPHA:335 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Skeletal muscle atrophy, Apnea, Optic atrophy, Respiratory insufficiency, Left... |
OMIM:618228 |
| Fibronectin Glomerulopathy |
|
Hypertension, Hypoalbuminemia, Cerebral hemorrhage |
ORPHA:84090 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... |
OMIM:612098 |
| Sydenham Chorea |
|
Unsteady gait, Endocarditis, Emotional lability, Irritability, Inappropriate behavior, Compulsive... |
ORPHA:306731 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration... |
ORPHA:254361 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... |
OMIM:263400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Apnea, Congestive heart failure, Bradycardia, Left ventric... |
OMIM:619048 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... |
OMIM:616371 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Respiratory insufficiency |
OMIM:215550 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Flexion contracture, Joint swelli... |
OMIM:609628 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmona... |
OMIM:612387 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Acute respiratory distress syndrome, Petechiae, Cerebral hemorrhage, Secundum atria... |
OMIM:617397 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... |
OMIM:616373 |
| Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Joint stiffness, Joint swelling, Polyartic... |
OMIM:180300 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, Nodular pattern on pu... |
ORPHA:99931 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... |
OMIM:613873 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Flexion contracture, Oligoar... |
ORPHA:85408 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Aspergillosis |
|
Sinusitis, Eosinophilia, Pneumonia, Cough, Dyspnea, Asthma, Increased circulating IgE level, Vitr... |
ORPHA:1163 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
| Hemophilia B |
|
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged bleeding after dental extrac... |
ORPHA:98879 |
| Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis |
ORPHA:2111 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis, Dementia, Spastic gait |
ORPHA:320365 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Acne, Hypercholesterolemia, Abnormality of the endocrine system, Abnormality o... |
ORPHA:77296 |
| Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Myocarditis, Hepa... |
ORPHA:829 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthritis, Inflammation of the... |
ORPHA:29207 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Popliteal Cyst |
|
Abnormality of the knee, Joint swelling |
OMIM:175750 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... |
ORPHA:93284 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Hermansky-Pudlak Syndrome 4 |
|
Hypoplasia of the fovea, Abnormal bleeding, Absent platelet dense granules, Epistaxis, Ocular alb... |
OMIM:614073 |
| Dural Sinus Malformation |
|
Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorr... |
ORPHA:97339 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Recurrent respiratory infections, Pancytopenia, Impaired neutrop... |
OMIM:618986 |
| Mixed Connective Tissue Disease |
|
Prolonged bleeding time, Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocardit... |
ORPHA:809 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... |
OMIM:300845 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricular h... |
OMIM:616733 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
| Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive r... |
ORPHA:94080 |
| Limited Cutaneous Systemic Sclerosis |
|
Foot joint contracture, Telangiectasia of the skin, Pulmonary fibrosis, Pulmonary arterial hypert... |
ORPHA:220402 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
| Cln3 Disease |
|
Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy, T-wave inv... |
ORPHA:228346 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dyspnea, Achilles te... |
OMIM:615418 |
| Congenital Atransferrinemia |
|
Arthritis, Hypothyroidism |
ORPHA:1195 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial he... |
ORPHA:449285 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Myocardial infarction, Sple... |
OMIM:205400 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Anemia... |
ORPHA:90060 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Abnormal pulmonary int... |
OMIM:616414 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... |
ORPHA:326 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... |
ORPHA:79 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein concentration, Pust... |
OMIM:612852 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... |
ORPHA:308552 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
| Acquired Purpura Fulminans |
|
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged ... |
ORPHA:49566 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after dental extr... |
ORPHA:465 |
| Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after dental extraction, Intracranial hemorrhage... |
OMIM:227500 |
| Pachydermoperiostosis |
|
Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic dermatitis, Ed... |
ORPHA:2796 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ... |
ORPHA:328 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
| Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... |
ORPHA:2299 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Usual interstitial pneumonia, Reticular pattern... |
OMIM:614742 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy... |
OMIM:171420 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
| Osteosarcoma |
|
Joint swelling, Pathologic fracture, Osteolysis |
ORPHA:668 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Re... |
OMIM:614654 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... |
ORPHA:35909 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Limitation of joint mobility, K... |
ORPHA:2619 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Mitral regurgitation, Pulm... |
OMIM:615355 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Elevated circulating creatine kinase concentration, Respiratory insufficiency... |
OMIM:613153 |
| Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Ele... |
ORPHA:81 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Ocular albinism, Hematochezia, Cardiomyopathy, Restrictive ve... |
OMIM:203300 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Bro... |
ORPHA:420741 |
| Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscl... |
OMIM:620278 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased circulatin... |
OMIM:611926 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Waddling gait, Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, ... |
ORPHA:93308 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circula... |
OMIM:618394 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Confusion, Cholangitis, Ankle swelling, Eczema, Angioedema,... |
ORPHA:3260 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Primary hypercortisolism, Paradoxical ... |
OMIM:610475 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
| Epiphyseal Dysplasia, Multiple, 3 |
|
Abnormal hip joint morphology, Elevated circulating creatine kinase concentration, Delayed epiphy... |
OMIM:600969 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgit... |
OMIM:619167 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
| Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG... |
ORPHA:284227 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Purpura, ... |
ORPHA:849 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Osteoporosis, Type II diabetes mellitus, Gout |
OMIM:610947 |
| Farber Disease |
|
Abnormality of the knee, Flexion contracture, Osteoporosis, Abnormality of the elbow, Hydrops fet... |
ORPHA:333 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
OMIM:610978 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... |
OMIM:610489 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Subarachnoid hemorrhage, A... |
OMIM:243700 |
| Chikungunya |
|
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Facial edema, Crusting ery... |
ORPHA:324625 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Respiratory distress |
OMIM:616974 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
| Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy, Dyspnea |
OMIM:620145 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentration, Recurrent upper res... |
OMIM:613101 |
| Acute Lung Injury |
|
Shock, Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Elevat... |
ORPHA:178320 |
| Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... |
OMIM:155100 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Dehydration, Periodontitis, Compulsive behaviors, Chronic otitis media, Abno... |
ORPHA:534 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... |
OMIM:186580 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Subdural hemorrh... |
OMIM:202400 |
| Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Abnormal lymphocyte count, Portal h... |
ORPHA:79124 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Restri... |
OMIM:615704 |
| Adiposis Dolorosa |
|
Recurrent skin infections, Xerostomia, Depression, Arthritis, Memory impairment, Hypothyroidism |
ORPHA:36397 |
| Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Intracranial hemorrhage, Pseudopapilledema, Stroke |
ORPHA:140989 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Elevated circulating C-reactive protein concentration, Increased circulating IgA level... |
OMIM:617099 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal ... |
ORPHA:365 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Flat acetabular roof, Increased circulating androgen concentration, Genu valgu... |
ORPHA:2976 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respirat... |
ORPHA:79128 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
| Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase conc... |
ORPHA:90291 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Recurrent respiratory infections, Elevated circulating C-react... |
OMIM:615934 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Ataxia, Hypogonadotropic hypogonadism, Skin rash, ... |
ORPHA:35687 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Macular atrophy, Hypersplenism, Thrombocytopenia, Splenome... |
OMIM:230800 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Hypothyroidism, Joint swelling, Sclerosis of skull base, Rheumatoid arthritis, Recurre... |
OMIM:607944 |
| Scedosporiosis |
|
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... |
ORPHA:449280 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... |
OMIM:235200 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Sinusitis, Recurrent respiratory infections, Splenomegaly, Recurrent ... |
ORPHA:47612 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Lethargy, Arthritis |
OMIM:602390 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Hypoplasia... |
ORPHA:906 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... |
OMIM:301500 |
| Familial Avascular Necrosis Of Femoral Head |
|
Hip osteoarthritis, Short stepped shuffling gait, Limited hip movement |
ORPHA:86820 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Thrombocytope... |
OMIM:231200 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist... |
ORPHA:90308 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, Decreased c... |
OMIM:619510 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elevated circulating C-reactive protein concentration, Elbow flexion contracture, Knee flex... |
OMIM:604416 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentr... |
OMIM:608836 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly |
ORPHA:85447 |
| Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial... |
ORPHA:2038 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension, Arteriosclerosis, ... |
ORPHA:494424 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Respiratory insufficiency, Car... |
ORPHA:746 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
| Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Hepatomegaly, Reduced natural killer cel... |
OMIM:608233 |
| Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Subcutaneous hemorrhage, Pneumo... |
ORPHA:238459 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated creatine kinase after exercise, Sudden cardiac death, Congestive heart failure, Cerebell... |
ORPHA:99901 |
| Pseudoachondroplasia |
|
Waddling gait, Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed... |
ORPHA:750 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Decreased circulating aldosterone level, Dehydration,... |
OMIM:610600 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... |
ORPHA:860 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Hepatomegaly, Respiratory distress, Hypoventilation, Apnea, Pulm... |
ORPHA:79330 |
| Apparent Mineralocorticoid Excess |
|
Hypertensive retinopathy, Hypertension, Stroke, Left ventricular hypertrophy, Decreased circulati... |
ORPHA:320 |
| Idiopathic Camptocormia |
|
Myositis, Elevated circulating creatine kinase concentration, Fatigable weakness of skeletal musc... |
ORPHA:1320 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased circulating total IgG, Osteomalacia, Elevated circulating C-reactive pro... |
OMIM:619381 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Autoimmune thrombocytopenia, ... |
ORPHA:324636 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive r... |
ORPHA:276621 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Achalasia, C... |
ORPHA:324 |
| Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
| Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... |
ORPHA:231 |
| Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy... |
OMIM:171300 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, S... |
ORPHA:75249 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
| Lethal Congenital Contracture Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:615368 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Waddling gait, Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis... |
ORPHA:166002 |
| Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Macular atrophy, ... |
OMIM:242840 |
| Alkaptonuria |
|
Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Join... |
ORPHA:56 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Hydrocele testis, Patent foramen ovale |
OMIM:618832 |
| Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Dehydration, Elevated serum 11-deoxycortisol, Increase... |
ORPHA:556030 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, C... |
OMIM:617713 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Recurrent pneu... |
OMIM:619644 |
| Insulin Autoimmune Syndrome |
|
Insulin-resistant diabetes mellitus, Arthralgia/arthritis, Increased circulating antibody level, ... |
ORPHA:411593 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b... |
OMIM:619611 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Braddock Syndrome |
|
Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis, Congenital mu... |
ORPHA:52047 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Neutropenia, Abnormal heart morphology |
ORPHA:79284 |
| Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Hepatomegaly, Portal hypertension, Pericardial effusion, Choriore... |
OMIM:619487 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula... |
ORPHA:2041 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Apnea, Cerebellar hemorrhage, Tachypnea, Anemia, Cardiomyopathy, Neut... |
OMIM:606054 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy, Optic atrophy |
ORPHA:401866 |
| C1Q Deficiency 2 |
|
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Bronchiect... |
OMIM:620321 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Intracr... |
ORPHA:85212 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia |
OMIM:601457 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Hypoalbu... |
ORPHA:85443 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, Hypertrophic cardi... |
OMIM:620326 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... |
ORPHA:230851 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive r... |
ORPHA:29072 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Retinal dystrophy, Pulmonary fibrosis |
OMIM:617175 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Acne, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189427 |
| Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Elevated circulating ... |
OMIM:185070 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Decreased circulating I... |
OMIM:618278 |
| Vascular Hyalinosis |
|
Hematochezia, Chorioretinal scar, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Pulmonary fib... |
OMIM:619767 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Pulmonary fibrosis, Leukemia, Myeloid leukemia |
OMIM:614743 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Thrombocytopenia, Spleno... |
ORPHA:464329 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Waddling gait, Premature osteoarthritis, Hip osteoarthritis, Osteochondritis dissecans |
OMIM:165800 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time, Hypoalbuminemia, Elevated circulating cr... |
OMIM:619055 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Cough, Vasculit... |
ORPHA:900 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Waddling gait, Abnormality of the knee, Hip contracture, Protrusio acetabuli, Limited hip movemen... |
ORPHA:99642 |
| Isovaleric Acidemia |
|
Thrombocytopenia, Leukopenia, Cerebellar hemorrhage, Pancytopenia |
OMIM:243500 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Waddling gait, Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu v... |
OMIM:132400 |
| Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... |
OMIM:601492 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness |
OMIM:604864 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
| Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Acne, Elevated circulating growth hormone conce... |
ORPHA:963 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
| 1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Limitation of joint mobility, Ectopic ossification in muscl... |
ORPHA:2762 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... |
ORPHA:244 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropeni... |
OMIM:251000 |
| Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Palpebral edema, Elevated circulating growth ho... |
ORPHA:314769 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis |
ORPHA:567544 |
| Multicentric Reticulohistiocytosis |
|
Arthritis |
ORPHA:139436 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Foam cells, Decreased circulating... |
OMIM:619802 |
| Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... |
ORPHA:79127 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... |
OMIM:263000 |
| Fanconi Renotubular Syndrome 5 |
|
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Confusion, Elevated circulating creatine kinase concentration, Pn... |
ORPHA:36234 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... |
OMIM:616564 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, A... |
ORPHA:100924 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity |
OMIM:130020 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Dehydr... |
ORPHA:33110 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Arthritis, Re... |
OMIM:611762 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Decreased circulating antibody level, Increased circulating IgM level,... |
ORPHA:397596 |
| Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Arthritis |
OMIM:604250 |
| Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, Pulmonary fib... |
ORPHA:220393 |
| Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
| Melorheostosis |
|
Increased bone mineral density, Lymphedema, Joint stiffness, Arthritis, Ectopic ossification in m... |
ORPHA:2485 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
| Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Thickened aortic valve cusp, Vitreous floaters, Left ventricular hypertroph... |
OMIM:619698 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... |
ORPHA:90793 |
| Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Waddling gait, Antalgic gait, Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Li... |
ORPHA:166011 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Osteoarthritis, Diabetes mellitus |
OMIM:606069 |
| Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Edema, Wrist swelling, Increased circulating ... |
ORPHA:448237 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Hepatosplenomegal... |
OMIM:618935 |
| Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Respiratory failure requiring assisted ventilation, Abnorm... |
ORPHA:576 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... |
OMIM:193400 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Leukocytosis, Asthma, Wheezing, Bronchi... |
OMIM:620233 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Limitation of joint mobility |
ORPHA:2582 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Optic neuropathy, Pericardial effusion, Splenomegaly, Dyspnea, Bronch... |
OMIM:181000 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... |
OMIM:127550 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmona... |
ORPHA:185 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Dyspnea, Ocular albinism, Cardiomyopat... |
ORPHA:79430 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Edema, Discoid lupus rash, Pericardial effusion, Arthritis, Ascites, Cogniti... |
ORPHA:93552 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Splenomegaly... |
OMIM:607625 |
| Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Rayn... |
ORPHA:206572 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia, Anemia |
OMIM:620365 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Reduced natural killer cell activity, Arth... |
OMIM:615559 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Abnormal pulm... |
ORPHA:99745 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
| Monosomy 22 |
|
Contractures of the large joints, Aplasia of the thymus, Joint swelling, Seborrheic dermatitis |
ORPHA:96123 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Leukocytosi... |
ORPHA:2902 |
| Schnitzler Syndrome |
|
Increased circulating IgM level, Increased bone mineral density, Skin rash, Arthritis |
ORPHA:37748 |
| Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
| Cinca Syndrome |
|
Skin rash, Elevated circulating C-reactive protein concentration, Lymphedema, Patellar overgrowth... |
OMIM:607115 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Intracranial hemorrhage,... |
ORPHA:340 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Intracrania... |
ORPHA:447788 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
ORPHA:209905 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Pulmonary fibrosis, Neutropeni... |
OMIM:613989 |
| Blau Syndrome |
|
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... |
ORPHA:90340 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemor... |
ORPHA:536545 |
| Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Arthritis, Dysphagia |
ORPHA:85446 |
| Peripheral Dysostosis |
|
Osteoarthritis, Joint stiffness |
ORPHA:1795 |
| Congenital Gerbode Defect |
|
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... |
ORPHA:99095 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F... |
OMIM:619503 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Depres... |
ORPHA:2137 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Gaucher Disease |
|
Elevated circulating C-reactive protein concentration, Cherry red spot of the macula, Abnormal bl... |
ORPHA:355 |
| Beukes Hip Dysplasia |
|
Osteoarthritis, Shallow acetabular fossae |
OMIM:142669 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dilation of Virchow-Robin spaces, Elevated circulating creatine kinase concentr... |
OMIM:175780 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Retinopathy, Sub... |
ORPHA:743 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum |
ORPHA:85198 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Uveitis, Increased circulating interferon-gamma concentratio... |
ORPHA:85410 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Pulmonary fibrosis, Myocardial infarction |
ORPHA:457240 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... |
ORPHA:229717 |
| Familial Cold Urticaria |
|
Arthritis, Polydipsia, Conjunctivitis, Dehydration |
ORPHA:47045 |
| Mirage Syndrome |
|
Petechiae, Thrombocytopenia, Patent ductus arteriosus, Hypoplastic spleen, Intracranial hemorrhag... |
OMIM:617053 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dy... |
ORPHA:199241 |
| Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Septic arthritis |
ORPHA:36237 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... |
ORPHA:93351 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Hydranencephaly |
|
Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of the ventricula... |
ORPHA:2177 |
| Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... |
ORPHA:53 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps... |
ORPHA:254892 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Aspiration pneumonia |
OMIM:616430 |
| Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Bronchiectasis, B... |
OMIM:615518 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du... |
OMIM:618291 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right... |
ORPHA:97287 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Osteoarthritis |
OMIM:614135 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Pericardial effusion, Abnormal myocardium morphology, Hypersplenism, ... |
ORPHA:77259 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2481 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Hepatomegal... |
ORPHA:394 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Macular coloboma, Pulmonary embolism, Megaloblastic anemia, Dilated cardiom... |
ORPHA:79282 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
| Alpha-Mannosidosis |
|
Chronic otitis media, Arthritis, Synostosis of joints, Type II diabetes mellitus |
ORPHA:61 |
| Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
| Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Prolonged bleeding time, Phalangeal dislocation, Osteoarthritis, Generalized joint la... |
ORPHA:287 |
| Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper... |
OMIM:265400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Congestive heart failure, Elevated circulating creatine kinase conc... |
OMIM:619355 |
| Joubert Syndrome 14 |
|
Ventricular septal defect, Morning glory anomaly, Optic atrophy, Intracranial hemorrhage, Hyperte... |
OMIM:614424 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ... |
OMIM:209900 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Thyroiditis, Uveitis, Bronc... |
OMIM:614700 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis |
ORPHA:2206 |
| Whipple Disease |
|
Myositis, Pericarditis, Ataxia, Anorexia, Myocarditis, Uveitis, Depression, Pedal edema, Arthriti... |
ORPHA:3452 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Patent ductus arteriosus, Small thenar eminence, Pulmonary hypoplasia, Pulmonic stenosis, Camptod... |
OMIM:619148 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i... |
ORPHA:330001 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... |
OMIM:607078 |
| Eosinophilic Fasciitis |
|
Fasciitis, Myositis, Edema, Arthritis, Muscular edema |
ORPHA:3165 |
| Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Episcleritis, Ataxia, Skin rash, Pericardial effusion, Angioedema, Uveitis, Ar... |
ORPHA:36412 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Waddling gait, Capitate-hamate fusion, Osteoarthritis, Genu valgum, Limited elbow extension |
OMIM:271650 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... |
OMIM:613834 |
| Hypochondroplasia |
|
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum |
ORPHA:429 |
| Graft Versus Host Disease |
|
Fasciitis, Myositis, Acute hepatitis, Dupuytren contracture, Limited elbow movement, Maculopapula... |
ORPHA:39812 |
| Menkes Disease |
|
Intracranial hemorrhage, Decreased circulating ceruloplasmin concentration |
OMIM:309400 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating antibo... |
OMIM:616100 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Pancytopenia |
OMIM:618321 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility |
ORPHA:63442 |
| Laron Syndrome |
|
Abnormality of the endocrine system, Osteoarthritis, Abnormality of the elbow, Delayed puberty, H... |
ORPHA:633 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal jugular vein morphology, Increased pulmonary vascular resistanc... |
ORPHA:275766 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave, Decreased circul... |
ORPHA:231625 |
| Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of... |
ORPHA:221 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
| Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... |
ORPHA:99104 |
| Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
| Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Recurrent respiratory infections, Apnea, Anemia |
OMIM:241500 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Abnorm... |
OMIM:615486 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Ataxia, Confusion, Acne, Anorexia, Orchi... |
ORPHA:117 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr... |
OMIM:618165 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis |
ORPHA:93283 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
|
Pulmonary fibrosis |
OMIM:618674 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Decreased muscle mass, Microcytic anemia, Abnormal pulmonary interstitial morphology, Hepatosplen... |
OMIM:619013 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Osteopenia, Premature thelarche, Sclerotic cranial sutures, Osteolysis involving bon... |
ORPHA:371428 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Anemia, Camptodactyly, Left ventricular hypertrophy, Thrombocytopenia |
OMIM:611209 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Optic atrophy, Anemia, Exudative retinopathy, Intestinal bleeding, Pulmon... |
OMIM:612199 |
| Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum |
ORPHA:1822 |
| Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a... |
ORPHA:575 |
| Q Fever |
|
Respiratory distress, Abnormal left ventricular function, Cough, Hepatomegaly, Pericardial effusi... |
ORPHA:781 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm... |
ORPHA:183675 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Exudative retinopathy, Pulmonary fibrosis, Decreased D... |
OMIM:613990 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Loss of ambulation, Sel... |
ORPHA:2388 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... |
ORPHA:93311 |
| Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... |
ORPHA:90307 |
| Nail-Patella Syndrome |
|
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... |
ORPHA:2614 |
| Takayasu Arteritis |
|
Increased inflammatory response, Inflammatory abnormality of the eye, Anorexia, Arthritis |
ORPHA:3287 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma, ... |
OMIM:304790 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Arthritis, Osteomyelitis, Septic arthritis, Elevated circulating C-reactive protein concentration |
OMIM:619423 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis, Mildly elevated creatine kinase, Dysphagia |
ORPHA:397744 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Elbow contracture, Abnormal repetitive mannerisms, Diminished ability to concentrate, Att... |
OMIM:615656 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:363958 |
| Pfapa Syndrome |
|
Arthritis, Infectious encephalitis |
ORPHA:42642 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis |
OMIM:184840 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Desquamative interstitial pneumonitis, ... |
OMIM:615952 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Osteoarthritis |
ORPHA:166100 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Papilledema, Aortic v... |
ORPHA:2072 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Periorbital edema, Flexion contracture, Art... |
OMIM:617591 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Ataxia, Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Arthritis, Re... |
ORPHA:343 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
| Rheumatic Fever |
|
Pericarditis, Sinusitis, Anorexia, Myocarditis, Endocarditis, Arthritis, Gait disturbance |
ORPHA:3099 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Decreased muscle mass |
OMIM:616507 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
| Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
| Meningioma |
|
Papilledema, Facial palsy, Cerebral hemorrhage, Progressive pulmonary function impairment, Abnorm... |
ORPHA:2495 |
| Osteogenesis Imperfecta |
|
Aortic regurgitation, Abnormal endocardium morphology, Neonatal respiratory distress, Cerebral he... |
ORPHA:666 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Cardiomegaly |
OMIM:618838 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abnormality of the endocrine system, Erythema ... |
ORPHA:228123 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Recurrent pneumonia, Eczema, Decreased circulating antibody level |
OMIM:617780 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Recurren... |
ORPHA:77261 |
| Sarcoidosis |
|
Hyperthyroidism, Diabetes insipidus, Maculopapular exanthema, Erythema nodosum, Bronchiectasis, U... |
ORPHA:797 |
| Ulnar Hemimelia |
|
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... |
ORPHA:93320 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis |
OMIM:618618 |
| Anti-Glomerular Basement Membrane Disease |
|
Arthritis |
ORPHA:375 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
| Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
| Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the phalanges of the ... |
OMIM:618175 |
| Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
| Stickler Syndrome Type 1 |
|
Joint hyperflexibility, Osteoarthritis |
ORPHA:90653 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Myopathy, Abno... |
ORPHA:109 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage |
OMIM:613603 |
| Congenital Tufting Enteropathy |
|
Dehydration, Arthritis, Irritability, Steatorrhea, Punctate keratitis |
ORPHA:92050 |
| Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju... |
OMIM:617321 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Choroidal hemangioma, Retinal cavernous angioma, Cerebral hemorrhage |
ORPHA:221061 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
| Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:1839 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Periorbital edema, Oligoarthritis, Polyarticular ar... |
OMIM:142680 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Desbuquois Dysplasia 1 |
|
Waddling gait, Joint dislocation, Joint laxity, Phalangeal dislocation, Osteoarthritis, Osteoporo... |
OMIM:251450 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... |
OMIM:307200 |
| Pseudoachondroplasia |
|
Waddling gait, Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist... |
OMIM:177170 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Pustule, Cheilitis, Uveitis, Pedal edema, ... |
ORPHA:247353 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial... |
ORPHA:284984 |
| Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein concentration, Pust... |
OMIM:614204 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Cardiomyopathy, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
| Tangier Disease |
|
Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Anemia, Facial diplegia... |
ORPHA:31150 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... |
ORPHA:85436 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchiolitis obli... |
OMIM:617241 |
| Marburg Hemorrhagic Fever |
|
Pericarditis, Maculopapular exanthema, Confusion, Elevated circulating creatine kinase concentrat... |
ORPHA:99826 |
| Reynolds Syndrome |
|
Skin rash, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Dysphagia, Ascites, Infectious ence... |
ORPHA:779 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Decreased circulating antibody level, Iron deficiency anemia, H... |
OMIM:226300 |
| Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Abnormal bleeding, Abnormal respiratory system physiology, He... |
ORPHA:90062 |
| Wilson Disease |
|
Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Osteomalacia, Edema, Osteo... |
OMIM:277900 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... |
ORPHA:90796 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Osteoarthritis, Bronchiectasis, Joint hypermobility |
OMIM:620080 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Brucellosis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthritis, Increased c... |
ORPHA:1304 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... |
OMIM:608654 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Skeletal muscle atrophy, Retinal atrophy, Retinal dystrophy, Hepatomegaly, Spl... |
ORPHA:90324 |
| Giant Cell Arteritis |
|
Pericarditis, Ataxia, Anorexia, Joint stiffness, Depression, Arthritis, Diabetes insipidus |
ORPHA:397 |
| Majeed Syndrome |
|
Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Edema,... |
ORPHA:77297 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Heart murmur, Respiratory ... |
ORPHA:163979 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthritis, Enthesitis, Arth... |
ORPHA:85438 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist |
ORPHA:1657 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Tubul... |
ORPHA:183 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
| Plague |
|
Chapped lip, Skin rash, Anorexia, Edema, Erythema nodosum, Lymphadenitis, Unsteady gait, Abnormal... |
ORPHA:707 |
| Tarp Syndrome |
|
Atrial septal defect, Optic atrophy, Tetralogy of Fallot, Subdural hemorrhage |
OMIM:311900 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:612289 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Progressive flexion contractures, Ataxia, Gait ataxia, Bradykinesia, Depression, Rheumatoid arthr... |
ORPHA:98808 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Limitation of joint mobility, Addictive alcohol use, Difficulty walking |
ORPHA:399180 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... |
OMIM:259100 |
| Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
| Lesch-Nyhan Syndrome |
|
Gout |
ORPHA:510 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Short attention span, Fasciitis, Osteomyelitis, Neuropathic arthropathy, Nail-biting, Hyperactivi... |
ORPHA:642 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Thyroiditis, Gout, Increased susc... |
ORPHA:79259 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility |
OMIM:108300 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Ataxia, Eczema, Elevated circulating C-reactive protein concentration, Skin rash, Erythema nodosu... |
OMIM:615688 |
| Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Increased circulating IgA level, Abnormal circulating leptin concentration,... |
ORPHA:2298 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Chronic oral candidiasis, Psoriasiform dermatitis, Ataxia, Palpebral edema, Decreased... |
ORPHA:221139 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Ocular albinism, Abnormal pu... |
OMIM:617050 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
| Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Hypertension, Polysple... |
OMIM:613610 |
| Sitosterolemia 1 |
|
Arthritis, Xanthelasma, Impaired platelet aggregation, Hypercholesterolemia, Reduced haptoglobin ... |
OMIM:210250 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... |
OMIM:130000 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Edema, Pericardial effusion, Increased circ... |
OMIM:615846 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Elevated circulating C-reactive protein concentration, Rig... |
ORPHA:70591 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy |
OMIM:616897 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Elevated circulating parathyroid hormone leve... |
OMIM:307800 |
| Roifman-Chitayat Syndrome |
|
Osteopenia, Arthritis, Pneumonia |
OMIM:613328 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Increased circulat... |
OMIM:619472 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Multiple joint dislocation, Gener... |
ORPHA:93360 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocation, Knee disloca... |
OMIM:618000 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... |
ORPHA:99889 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Flexion contracture, Optic atrophy, Stroke-like episode, Int... |
ORPHA:86309 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Carotid artery occlusion, Mit... |
ORPHA:740 |
| Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Irritability, Iritis |
OMIM:109650 |
| Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Gout |
OMIM:232800 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Limb hypertonia |
OMIM:618480 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... |
OMIM:300755 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Elevated hemoglobin A1c, Flexi... |
OMIM:619127 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Enlarged joints, Polyhydramnios, Abnormal joint morphology, Osteoa... |
ORPHA:1427 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
| Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Pustule, Increased circulating antibody level, Rheumatoid arthritis, Hypothyroidism |
ORPHA:48377 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Ataxia, Gout |
ORPHA:411543 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| 46,Xx Gonadal Dysgenesis |
|
Pulmonary fibrosis |
ORPHA:243 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Pulmonary fibrosis, Thrombocytopenia |
OMIM:224230 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Arthritis, Cervical subluxation |
OMIM:184100 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid arthritis, Inflammatory abnormality of the skin, Elevated circulating C-reactive prote... |
ORPHA:79099 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Osteoarthritis, Limited elbow extension, Genu varum |
OMIM:602111 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout |
OMIM:617056 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Arthritis |
OMIM:619825 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Waddling gait, Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossifi... |
ORPHA:93314 |
| Hemophilia A |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306700 |
| Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... |
ORPHA:228119 |
| Hemophilia B |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
| Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Tachypnea, Aortic valve atresia, Coarctation of aorta, Hyp... |
OMIM:220111 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
| Mucopolysaccharidosis Type 2 |
|
Short attention span, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, I... |
ORPHA:580 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... |
ORPHA:228116 |
| Spondyloenchondrodysplasia |
|
Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Hypothyroidism, Hepa... |
ORPHA:1855 |
| Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Thyroid carcino... |
ORPHA:331235 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension, Decreased circulating renin level |
ORPHA:90795 |
| Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Keratoconjunctivitis sicca, Arthritis |
ORPHA:91138 |
| Dowling-Degos Disease |
|
Arthritis, Acne inversa |
ORPHA:79145 |
| Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cholelithiasis, Priapism |
OMIM:603903 |
| Localized Scleroderma |
|
Fasciitis, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finger phalanx, Has... |
ORPHA:90289 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... |
OMIM:606367 |
| Familial Mediterranean Fever |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Arthr... |
OMIM:249100 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Nelson Syndrome |
|
Quadriceps muscle atrophy, Intracranial hemorrhage, Hypertension, Optic nerve compression, Lower ... |
ORPHA:199244 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:565 |
| Aicardi-Goutières Syndrome |
|
Myositis, Diabetes mellitus, Multiple joint contractures, Chilblains, Increased circulating inter... |
ORPHA:51 |
| Dysbetalipoproteinemia |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Gout, Xanthelasma, Hypercholesterole... |
ORPHA:412 |
| Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
| Shigellosis |
|
Pneumonia, Anorexia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Dehydration, Arthriti... |
ORPHA:810 |
| Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Persistent bleeding after trauma, Anisocoria, Abnorma... |
ORPHA:247245 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly |
OMIM:268800 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Waddling gait, Dislocation of the femoral head, Joint stiffness, Flexion contracture, Delayed fem... |
ORPHA:93307 |
| Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Septic arthritis |
OMIM:612260 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... |
OMIM:203500 |
| Listeriosis |
|
Pericarditis, Stiff neck, Ataxia, Pneumonia, Osteomyelitis, Pustule, Myocarditis, Peritonitis, En... |
ORPHA:533 |
| Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,... |
ORPHA:2331 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
| Medulloblastoma |
|
Neoplasm of the lung, Cerebellar hemorrhage |
ORPHA:616 |
| Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... |
OMIM:610984 |
| Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Anorexia, Edema, Orchitis, Pustule, Angioedema, Arthritis, Infectious en... |
ORPHA:761 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Cardiomegaly |
OMIM:105210 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... |
OMIM:301074 |
| Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, I... |
OMIM:260920 |
| Melioidosis |
|
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth... |
ORPHA:31202 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... |
OMIM:130650 |
| African Trypanosomiasis |
|
Pericarditis, Akinesia, Aggressive behavior, Abnormality of the endocrine system, Keratitis, Myoc... |
ORPHA:3385 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Diabetes mellitus, Generalized edema, Pneumoni... |
ORPHA:544482 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Distal Deletion 12Q |
|
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Pa... |
ORPHA:96149 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Stomatocytosis... |
OMIM:185000 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Myocarditis, Thrombocytopeni... |
ORPHA:50918 |
| Fucosidosis |
|
Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal in... |
ORPHA:227990 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Ir... |
ORPHA:227982 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
| Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
| Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Pedal edema, Arthritis, Ascites, ... |
ORPHA:342 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... |
ORPHA:728 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Short attention span, Camptodactyly of finger, Limitation of joint mobility, Flexion contracture,... |
ORPHA:217093 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Gout |
OMIM:618061 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Optic nerve compression |
ORPHA:91350 |
| Arachnoid Cyst |
|
Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage, Mydriasis |
ORPHA:2356 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Acne, Polyhydramnios, Seborrheic dermatitis, Multiple suture... |
ORPHA:567 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Cardiomegaly |
OMIM:618143 |
| Glycogen Storage Disease Ia |
|
Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Delayed puberty, Pancreatitis |
OMIM:232200 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Optic atrophy, Anemia, Leukopenia, Restrictive ventilatory ... |
OMIM:305000 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Premature osteoarthritis, Enlarged joints, Flexion contracture, Recurrent pneumonia |
OMIM:215150 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Limitation of joint mobility, Flexion contracture, Arthritis, Cognitive ... |
ORPHA:217085 |
| Myasthenia Gravis |
|
Myositis, Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Abnormal thymus morphology, ... |
ORPHA:589 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Gout, Hyperproteinemia, Increased circulating renin leve... |
ORPHA:90041 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Abnormality of endocrine pancreas physiology, Arthritis, Joint hyperflexibilit... |
ORPHA:93111 |
| Glycogen Storage Disease Ib |
|
Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Inflammation of the large intestine, Delayed pub... |
OMIM:232220 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... |
OMIM:614921 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand |
OMIM:190350 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Self-mutilation, Gout |
ORPHA:79233 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... |
ORPHA:89936 |
| Knobloch Syndrome 2 |
|
Retinal detachment, Recurrent respiratory infections, Vitreous floaters, Patent ductus arteriosus... |
OMIM:618458 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Gitelman Syndrome |
|
Salt craving, Maternal diabetes, Pericardial effusion, Gout, Diabetic ketoacidosis, Tubulointerst... |
ORPHA:358 |
| Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Decreased circulating antibody level, Rheumatoi... |
ORPHA:99867 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Hereditary Spherocytosis |
|
Ataxia, Gout, Maculopapular exanthema |
ORPHA:822 |
| Systemic Lupus Erythematosus |
|
Lupus nephritis, Discoid lupus rash, Cheilitis, Depression, Arthritis, Malar rash, Serositis |
ORPHA:536 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Subdural hemorrhage |
OMIM:619714 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility |
OMIM:313400 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:270150 |
| Marshall Syndrome |
|
Osteoarthritis, Genu valgum |
ORPHA:560 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Generalized bone deminer... |
ORPHA:93352 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormal hea... |
ORPHA:77293 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:603860 |
| Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Gout, Xanthelasma, Inflammation of the large intestine, Del... |
OMIM:232240 |
| Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Abscess, Subarachnoid hemorrhage, Upper limb muscle weakness, Hypertensi... |
ORPHA:139417 |
| Loeys-Dietz Syndrome 5 |
|
Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger flexion contracture... |
OMIM:615582 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respira... |
OMIM:613658 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Elevated circulating C... |
ORPHA:49041 |
| Gamma-Heavy Chain Disease |
|
Skin rash, Osteolysis, Rheumatoid arthritis, Dysphagia |
ORPHA:100026 |
| Multiple Osteochondromas |
|
Abnormality of the knee, Limitation of joint mobility, Abnormal carpal morphology, Femoroacetabul... |
ORPHA:321 |
| Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced b... |
ORPHA:353281 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Myocarditis, Adrenal pheochromocytoma,... |
ORPHA:892 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone ... |
ORPHA:3455 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, Cardiomegaly, Secundum atrial ... |
OMIM:300855 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Ataxia, Gout |
OMIM:300661 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Urinary bladder inflammation, Flexion contracture, Xerostomia, Bronchiectasi... |
ORPHA:99921 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... |
ORPHA:285 |
| X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries |
ORPHA:137675 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:174000 |
| Congenital Tricuspid Stenosis |
|
Carcinoid tumor, Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
| Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Multiple joint contractures, Angina pectoris, Pericardial eff... |
ORPHA:79318 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Cryptorchidism, Adrenocortical carcinoma, ... |
ORPHA:116 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint of the 4th finge... |
OMIM:613406 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Protrusio acetabuli, Limited elbow movement, Osteoporosis, Atte... |
ORPHA:558 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Polyhydramnios, Abnorma... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Polyhydramnios, Abnorma... |
ORPHA:353277 |
| Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
| Tetrasomy 9P |
|
Joint dislocation, Myositis, Pericarditis, Hyperactivity, Arthritis, Inappropriate behavior |
ORPHA:3310 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Hypospadias, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Bili... |
OMIM:619991 |
| Hunter-Macdonald Syndrome |
|
Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the hand, Delayed c... |
OMIM:611962 |
| Stickler Syndrome |
|
Joint dislocation, Protrusio acetabuli, Osteoarthritis, Hip dislocation, Uveitis, Reduced bone mi... |
ORPHA:828 |
| Abetalipoproteinemia |
|
Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:14 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis |
OMIM:161700 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Gout, Maturity-onset diabetes of the young |
OMIM:137920 |
| Primary Fanconi Renotubular Syndrome |
|
Pulmonary fibrosis |
ORPHA:3337 |
| Lacrimoauriculodentodigital Syndrome |
|
Xerostomia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Dysphagia |
ORPHA:2363 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Atrial septal defect, Hypoplasia of penis, Overriding aorta, Hyp... |
ORPHA:904 |
| Marfan Syndrome |
|
Genu recurvatum, Protrusio acetabuli, Flexion contracture, Premature osteoarthritis, Camptodactyl... |
OMIM:154700 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Epididymitis, Elevated circulating thyroid-stimulating ... |
OMIM:256040 |
| Noonan Syndrome 1 |
|
Lymphedema, Synovitis, Hypogonadism, Chylothorax, Cubitus valgus |
OMIM:163950 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Respirator... |
OMIM:614748 |
| Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility... |
ORPHA:286 |
| Aspartylglucosaminuria |
|
Chronic otitis media, Arthritis, Joint stiffness |
ORPHA:93 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Myocardial ca... |
ORPHA:51608 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
