| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... |
OMIM:614470 |
| Cystic Echinococcosis |
|
Abnormality of the vertebral column, Abnormality of the testis size, Pulmonary cyst, Ovarian cyst... |
ORPHA:400 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis... |
OMIM:619644 |
| Aspergillosis |
|
Abnormality of the vertebral column, Hepatitis, Keratitis, Intracranial hemorrhage, Hypersensitiv... |
ORPHA:1163 |
| Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia, Recurrent otitis media, Thoracolumbar scoliosis, Bronchiectasis, Eczema, Recurrent ... |
OMIM:618523 |
| Eosinophilia, Familial |
|
Eosinophilia, Leukocytosis, Myocardial eosinophilic infiltration, Recurrent bronchitis, Anemia, T... |
OMIM:131400 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Colitis, Neutrophilia, Inflammati... |
OMIM:619281 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia |
OMIM:617638 |
| Rigid Spine Syndrome |
|
Hamstring contractures, Pneumonia, Abnormality on pulmonary function testing, Skeletal muscle atr... |
ORPHA:97244 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia, Recurrent otitis media, High palate, Recurrent skin infections, Bronchiectasis, Ecz... |
OMIM:618282 |
| Roifman Syndrome |
|
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Biconvex vertebral bodies, Splenomegal... |
OMIM:616651 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cryptorchidism, Hydronephrosis, Anemia, Mitral regurgitation, Hypoplasia of the thymus, Lymphopen... |
OMIM:612541 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... |
OMIM:607685 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia, Recurrent pneumonia, High palate, Cutaneous abscess, Scoliosis, Eczematoid dermatit... |
OMIM:147060 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia, Arthritis, Abnormal pleura morphology |
ORPHA:2582 |
| Roifman Syndrome |
|
Eosinophilia, Recurrent pneumonia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Recurrent o... |
ORPHA:353298 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Abnormal pericardium morphology, Abnormal skeletal muscle morphology, Cholangi... |
ORPHA:284 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Eosinophilia, Monocytosis, Leukemia, Recurrent skin infections, Pneumonia, Periodontitis, Acute m... |
ORPHA:486 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Asthma, Decreased proportion of CD4-po... |
OMIM:243700 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pericardium morphology, Proteinuria, Hypertension, Dysphagia, Skin rash, Congestive hear... |
ORPHA:183 |
| Caroli Syndrome |
|
Hepatic failure, Cholangitis, Polycystic kidney dysplasia, Intrahepatic cholestasis, Hematemesis,... |
ORPHA:480520 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Otitis media |
OMIM:608971 |
| Loeffler Endocarditis |
|
T-wave inversion, Abnormal cardiomyocyte morphology, Right bundle branch block, Endocardial fibro... |
ORPHA:75566 |
| Cardiogenic Shock |
|
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... |
ORPHA:97292 |
| Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... |
OMIM:613953 |
| Atrial Standstill |
|
Atrial standstill, Left ventricular noncompaction, Flexion contracture, Ventricular tachycardia, ... |
ORPHA:1344 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Eosinophilia, Hepatosplenomegaly, Pneumonia, Stomatitis, Lymphadenitis, Nephrotic syndrome, Colit... |
ORPHA:911 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... |
OMIM:180550 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel... |
ORPHA:169160 |
| Legionnaires Disease |
|
Proteinuria, Hepatitis, Pancreatitis, Lymphopenia, Arrhythmia, Infectious encephalitis, Abnormal ... |
ORPHA:549 |
| Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis, Hypoplastic left heart, Duodenal stenosis, Ventricular septal defect, Atrioventri... |
ORPHA:210122 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypereosinophi... |
ORPHA:2902 |
| Dextrocardia |
|
Abnormality of the ureter, Intestinal malrotation, Pancreatic hypoplasia, T-wave inversion, Abnor... |
ORPHA:1666 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Kyphoscoliosis, Respiratory insufficiency, Dysphagia, Pancreatitis |
OMIM:618230 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Developmental cataract, Flexion contracture, Hypertrophic cardiomyopathy,... |
OMIM:618815 |
| Systemic Capillary Leak Syndrome |
|
Oliguria, Leukocytosis, Arrhythmia, Myocarditis, Cough, Rhinorrhea, Pleural effusion, Hypotension... |
ORPHA:188 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Nephrotic syndrome, Cardiac arrest, Infectious encephalitis, Interstitial pneumonit... |
ORPHA:139402 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Dyspnea, Anemia, Abnormal bleeding, Thrombocytopenia |
ORPHA:517 |
| Scleroderma |
|
Interstitial cardiac fibrosis, Uveitis, Hypohidrosis, Abnormality of the small intestine, Episcle... |
ORPHA:801 |
| Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... |
ORPHA:3093 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Hepatosplenomegaly, Crohn's disease, Lymphadenitis, Neph... |
OMIM:618935 |
| Pgm3-Cdg |
|
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... |
ORPHA:443811 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Flexion contracture, Short neck, Kyphosis, Increased variability in muscl... |
OMIM:300718 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Conjunctivitis |
ORPHA:26137 |
| Immunodeficiency 48 |
|
Eczematoid dermatitis, Splenomegaly, Hepatomegaly, Pneumonia |
OMIM:269840 |
| Halothane Hepatitis |
|
Eosinophilia, Viral hepatitis, Hepatitis, Jaundice |
OMIM:234350 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... |
OMIM:202700 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Dysphagia, Inflammatory abnormality of t... |
ORPHA:3260 |
| Omenn Syndrome |
|
Abnormal lymphocyte morphology, Eosinophilia, Hypothyroidism, Leukocytosis, Pneumonia, Nephrotic ... |
ORPHA:39041 |
| Bronchogenic Cyst |
|
Bronchogenic cyst, Abnormal myocardium morphology, Abnormal stomach morphology, Pneumonia, Abnorm... |
ORPHA:2357 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Orbital cyst, Microcornea, Microphthalmia |
OMIM:251505 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Respiratory distress, Pancreatit... |
ORPHA:79312 |
| Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Limb muscle weakness, Scoliosis, Dysphagia, Arthr... |
OMIM:256030 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
| Shwachman-Diamond Syndrome |
|
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Aplastic anemia, De... |
ORPHA:811 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, T lymphocytopenia, Recurrent upper respiratory tract infections, Decreased proporti... |
ORPHA:169154 |
| Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Anemia, Hypertension, Microscopic hematuria, Pancreatitis, Stage 5 chronic kidney di... |
ORPHA:1830 |
| Immunodeficiency 88 |
|
Asthma, Eosinophilia |
OMIM:619630 |
| Omenn Syndrome |
|
Eosinophilia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Erythroder... |
OMIM:603554 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Dysuria, Anemia, Dysphagia, Pancreatitis, Abnormality of the urethra... |
ORPHA:36426 |
| Immunodeficiency 23 |
|
Eosinophilia, High palate, Vasculitis in the skin, Asthma, Abscess, Neutropenia, Eczema, Bronchie... |
OMIM:615816 |
| Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Biliary cirrhosis, Reduced forced expiratory volume in one sec... |
OMIM:219700 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Bone marrow hypocellularity, Asthma, Acute myeloid leukemia, Eczema, Ref... |
OMIM:616871 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia, Cataract, Bradycardia |
OMIM:617248 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hypothyroidism, Hepatosplenomegaly, Nephrotic syndrome, Eosinophilic liver infiltra... |
OMIM:618999 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Igg4-Related Pachymeningitis |
|
Eosinophilia, Sinusitis, Lymphadenitis, Abnormality of the cervical spine, Parotitis, Lower limb ... |
ORPHA:449427 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Leukopenia, Hepatomegaly, Anemia, Cardiomyopathy, Pancreatitis, Respiratory in... |
ORPHA:27 |
| Myosclerosis, Autosomal Recessive |
|
Achilles tendon contracture, Skeletal muscle atrophy, Reduced forced vital capacity, Thoracolumba... |
OMIM:255600 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Eosinophilia, Petechiae, Nephrotic syndrome, Gastrointestinal hemorrhage, Coombs-positive hemolyt... |
OMIM:603909 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Arrhythmia, Sick sinus syndrome |
OMIM:617182 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Atlantoaxial instability, Os odontoideum, Spondylolysis, Respiratory failure... |
OMIM:600561 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Hepatomegaly, Neutropenia, Anemia, Respiratory distress, Pancreatitis,... |
ORPHA:289916 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Ragged-red muscle fibers, Cataract, EMG: myopathic abnormalities, Ptosis, Limb muscle... |
OMIM:609286 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Hematochezia, Abnormality of the gastrointestinal tract, Leukocytosis, Asthma, Anem... |
ORPHA:2070 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, T lymphocytopenia, Recurrent otitis media, Leukopenia, Hepatosplenomegaly, Impaired... |
OMIM:618986 |
| Ichthyosis-Prematurity Syndrome |
|
Neonatal respiratory distress, Eosinophilia |
ORPHA:88621 |
| Nemaline Myopathy 3 |
|
Dilated cardiomyopathy, High palate, Nemaline bodies, Facial palsy, EMG: myopathic abnormalities,... |
OMIM:161800 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Proximal lower limb amyotrophy, Hyperlordosis, Knee flexion contracture, Scoliosis, Hip... |
OMIM:600175 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... |
OMIM:619386 |
| Nemaline Myopathy 7 |
|
High palate, Minicore myopathy, Nemaline bodies, Limb muscle weakness, Knee flexion contracture, ... |
OMIM:610687 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Cryptorchidism, Recurrent skin infections, Monocytosis, Micropenis |
OMIM:610680 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Restrictive ventilatory defect, Flexion contracture, Pneumonia, Ske... |
OMIM:253700 |
| Toxic Epidermal Necrolysis |
|
Intestinal perforation, Gastrointestinal hemorrhage, Dysuria, Anemia, Dysphagia, Pancreatitis, Ab... |
ORPHA:537 |
| Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, EMG: my... |
OMIM:601419 |
| Autoimmune Lymphoproliferative Syndrome |
|
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... |
OMIM:601859 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Arrhythmia, Sick sinus syndrome |
OMIM:617173 |
| Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Hypereosinophilia, Leukemia, Histiocytosis |
ORPHA:157991 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Eosinophilia, Recurrent pneumonia, Reduced red cell adenosine deaminase level, Pneumonia, Sinusit... |
OMIM:102700 |
| Beta-Thalassemia Intermedia |
|
Hypothyroidism, Persistence of hemoglobin F, Cholelithiasis, Decreased liver function, Jaundice, ... |
ORPHA:231222 |
| Beta-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Hypertrophic cardiomyopathy, Sp... |
ORPHA:848 |
| Propionic Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Tachypnea, Limb hypertonia, Hepatomegaly, Neutropenia, Anemi... |
OMIM:606054 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Rectal abscess, Hashimoto thyroiditis, Intestinal malrotation, Autoimmune hemolytic anemia, Jejun... |
ORPHA:436252 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminot... |
OMIM:618805 |
| Atrial Fibrillation, Familial, 18 |
|
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation |
OMIM:617280 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Hyperlordosis, Interosseus muscle atrophy, Reduced vital capacity, Distal amyotrophy, Distal lowe... |
OMIM:607088 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Upslanted palpebral fissure, Microcornea, Cataract, Microphthalmia, Epicanthus |
ORPHA:2528 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Recurr... |
ORPHA:3261 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Proteinuria, Hydronephrosis, Prostatitis, Hypertension, Otitis media... |
ORPHA:900 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia, Neonatal death |
OMIM:257100 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Hyperlordosis, Scoliosis, Reduced vital capacity, Rimmed vacuoles, Calf ... |
OMIM:617760 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Myositis, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Prox... |
OMIM:253600 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Leukopenia, Cerebellar hemorrhage, Tubulointerstitial nephritis, Hepatome... |
OMIM:251000 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Muscular dystrophy, Proximal amyotrophy, Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Primary amenorrhea, Polycystic ovaries, Dysmenorrhea, Congestive heart failure... |
ORPHA:79083 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Eosinophilia, Hypothyroidism, Coombs-positive hemolytic anemia, Autoimmune thrombocytopeni... |
OMIM:304790 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Achilles tendon contracture, Abnormal macrophage morphology, Left ventricular systolic dysfunctio... |
ORPHA:353 |
| Myasthenic Syndrome, Congenital, 5 |
|
Type 2 muscle fiber atrophy, Hyperlordosis, Limb muscle weakness, Respiratory insufficiency due t... |
OMIM:603034 |
| Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Abnormal form of the vertebral bodies, Hyperlordosis, Abnormal a... |
ORPHA:577 |
| Myasthenic Syndrome, Congenital, 14 |
|
High palate, Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Hyperlor... |
OMIM:616228 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Jaundice, Elevated hepatic transaminase, Cholestatic liver disease, Pancreatitis,... |
ORPHA:65682 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Anal atresia, Platyspondyly, Erythroderma, Cervical instability, Kyphoscoliosis, Ly... |
OMIM:617425 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Helicobacter pylori infection, Recurrent aphthous stomatitis, Neutropenia, Monocytop... |
ORPHA:2688 |
| Immunodeficiency, Common Variable, 1 |
|
Recurrent otitis media, Recurrent pneumonia, Pneumonia, Splenomegaly, Hepatomegaly, Recurrent bro... |
OMIM:607594 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular systolic dysfunction, Flexion contracture, Congenital muscular dystrophy, Crypto... |
OMIM:613156 |
| Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Uveitis, Anemia, Arthritis, Skin rash |
OMIM:607115 |
| Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Proteinuria, Hydronephrosis, Prostatitis, Arteritis, Membr... |
ORPHA:449395 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Restrictive ventilatory defect, Abnormal eosinophil morphology, Abnormal pattern of respiration, ... |
ORPHA:724 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:600649 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphadenitis, Au... |
ORPHA:331206 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Thr... |
ORPHA:2686 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Biliary cirrhosis, Enlarged kidney, Cholestasis, Pancreatic cysts, Bile duct proliferation, Atria... |
OMIM:208540 |
| Vernal Keratoconjunctivitis |
|
Punctate keratitis, Pruritus, Abnormal cornea morphology, Abnormal conjunctiva morphology, Cornea... |
ORPHA:70476 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... |
OMIM:618806 |
| Immunodeficiency 11 |
|
Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Intestinal malrotation, Pancreatic hypoplasia, Tracheoesophageal fistula, ... |
OMIM:601346 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Autoimmunity, T lymphocytopenia, Sinusitis, Recurrent otitis media, Pulmonary insufficiency, Recu... |
ORPHA:277 |
| Sandhoff Disease |
|
Kyphosis, Congestive heart failure, Splenomegaly, Hepatomegaly, Recurrent respiratory infections |
ORPHA:796 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Rhabdomyolysis, Sinus tachycardia, Abnormal pulse pressure, Hypotension, Prolong... |
ORPHA:466650 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... |
ORPHA:69663 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Neutropenia, Monocytosis, B lymphocytopenia |
OMIM:613107 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Scapuloperoneal amyotrophy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Scol... |
OMIM:611067 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... |
OMIM:619042 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Episcleritis, Ventricular septal defect, Cardiomegaly, Decreased response to growt... |
OMIM:602782 |
| Coccidioidomycosis |
|
Abnormality of the vertebral column, Pancreatitis, Exudative pleural effusion, Skin rash, Abnorma... |
ORPHA:228123 |
| Microsporidiosis |
|
Cholangitis, Decreased proportion of CD4-positive helper T cells, Prostatitis, Hepatitis, Pancrea... |
ORPHA:2552 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Beaki... |
ORPHA:40 |
| Ciliary Dyskinesia, Primary, 9 |
|
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Situs i... |
OMIM:612444 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Paraspinal muscle hypertrophy, Knee flexion contracture, Lumbar hyperlordosis, Congenital foot co... |
OMIM:602484 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Cleft vertebral arch, Superficial dermal perivascular inflammatory infiltrate, Co... |
ORPHA:83617 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Recurrent pneumonia, Fibrocystic lung disease, Pneumonia, Hematuria, Rhinorrhea, Me... |
OMIM:158310 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Cough, Eczema, Osteomyelitis, Atelectasis, Recurrent respiratory infections, Chroni... |
ORPHA:2314 |
| Isolated Glycerol Kinase Deficiency |
|
Cryptorchidism, Scoliosis, Myopathy, Hyperlordosis |
ORPHA:408 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephrotic syndrome, Proteinuria, Cryptorchidism, Abnormal mitral valve morphology, Hyperlordosis,... |
ORPHA:1192 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Narrow palpebral fissure, Bilateral microphthalmos, Cataract, Decreased muscle mass |
OMIM:608763 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Cholestasis, Intestinal malrotation, Pancreatic hypoplasia, Jejunal atresia, ... |
OMIM:615710 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Congestive heart failure, Hypertrophic cardi... |
ORPHA:2348 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:616276 |
| Lipoma Of The Conjunctiva |
|
Conjunctival lipoma |
OMIM:151700 |
| Isolated Agammaglobulinemia |
|
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Infl... |
ORPHA:229717 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Achilles tendon contracture, Restrictive ventilatory defect, Kyphosis, Congenital muscular dystro... |
OMIM:606612 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Microcornea, Corneal opacity |
ORPHA:2432 |
| Cach Syndrome |
|
Optic neuritis, Hepatosplenomegaly, Primary amenorrhea, Flexion contracture, Renal hypoplasia, Se... |
ORPHA:135 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Respiratory insufficiency due to muscle weakness, Foot dorsiflexor weakness, Kyphosis, Scoliosis |
OMIM:617087 |
| Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Facial palsy, Hypogonadotropic hypogonadism, Myopathy, Lumbar hyperlordosis |
OMIM:253320 |
| Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Thoracic scoliosis, Thoracic kyphosis, Absent muscle dystrophin expressio... |
ORPHA:206546 |
| Myopathy, Congenital, With Tremor |
|
High palate, Flexion contracture, EMG: myopathic abnormalities, Lumbar hyperlordosis, Scoliosis, ... |
OMIM:618524 |
| Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology |
ORPHA:482 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertension, Pancreatitis |
ORPHA:79084 |
| Sickle Cell Anemia |
|
Increased red cell sickling tendency, Cholelithiasis, Priapism, Leukocytosis, Hypoxemia, Hematuri... |
OMIM:603903 |
| Acute Lung Injury |
|
Acute pancreatitis, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory fai... |
ORPHA:178320 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... |
ORPHA:98849 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Chronic bronchitis, Abnormal axonemal organization of respiratory motile cil... |
OMIM:613807 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Flexion contracture, Abnormality of the Achilles tendon, Hand muscle weakness, Hyperlordosis, Con... |
ORPHA:363454 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Pelvic girdle amyotrophy, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Hy... |
ORPHA:267 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Hepatitis, Hematemesis, Pancreatitis, Fasciitis, Acute infectious pn... |
ORPHA:73263 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Hypoxemia, Shock, Respiratory failure, Hypotension, Dyspnea, Vasculitis, Pancreatitis,... |
ORPHA:70578 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Lacticaciduria, Hepatic periportal necrosis, Polycystic kidney dysplasia, Cardiorespiratory arres... |
ORPHA:26791 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Elevated hepati... |
OMIM:617713 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Severe platyspondyly, Lymphopenia, Recurrent... |
ORPHA:508533 |
| Caroli Disease |
|
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, L... |
ORPHA:53035 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Hyperlordosis, Proximal amyotrophy, Back pain, Myopathy, Scapular winging |
OMIM:618129 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hiatus hernia, Renal cyst, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypopla... |
OMIM:610199 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Subconjunctival hemorrhage, Hepatic failure, Proteinuria, Bundle branch block, Epid... |
ORPHA:99827 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Syncope, Ventricular tachycardia |
OMIM:611938 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, ... |
OMIM:312863 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
High palate, Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness, Scoliosis |
OMIM:611225 |
| Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Asthma, Abnormal eosinophil morphology, Cough, Bronchiectasis, Pulmonary arterial hype... |
ORPHA:1164 |
| Atelosteogenesis, Type Ii |
|
Coronal cleft vertebrae, Cervical kyphosis, Short neck, Platyspondyly, Horizontal sacrum, Lumbar ... |
OMIM:256050 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Limb-girdle muscle weakness, Hyperlordosis, Exertional dyspnea, Obst... |
ORPHA:352470 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contractur... |
ORPHA:280333 |
| Sickle Cell Anemia |
|
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Hypoxemia, Cholestasis, Thr... |
ORPHA:232 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Weakness of facial musculature, Aspiration pneumonia, Scapular winging, ... |
OMIM:619477 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Patent ductus arteriosus after birth at t... |
OMIM:618782 |
| Familial Mediterranean Fever |
|
Erysipelas, Proteinuria, Pancreatitis, Skin rash, Nephrocalcinosis, Arrhythmia, Osteoarthritis, A... |
ORPHA:342 |
| Primary Lipodystrophy |
|
Hepatic steatosis, Menometrorrhagia, Polycystic ovaries, Congestive heart failure, Splenomegaly, ... |
ORPHA:90970 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Skeletal muscle atrophy, Megaloblastic anemia, Gastroesophageal reflu... |
ORPHA:90045 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Interface hepatitis, Inf... |
ORPHA:562639 |
| Acitretin/Etretinate Embryopathy |
|
Bradycardia, Third degree atrioventricular block, Epicanthus, Antecubital pterygium, Hypoplasia o... |
ORPHA:40366 |
| Wiskott-Aldrich Syndrome |
|
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... |
OMIM:301000 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Irregular menstruation, Cholestasis, Increased circulating prolactin concentration,... |
ORPHA:562 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Coronal cleft vertebrae, Hyperlordosis, Abnormal vertebral morphology, Scoliosis, Hi... |
OMIM:618363 |
| Primary Sclerosing Cholangitis |
|
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, P... |
ORPHA:171 |
| Fucosidosis |
|
Absent/hypoplastic coccyx, Flexion contracture, Vacuolated lymphocytes, Anterior beaking of lumba... |
OMIM:230000 |
| Eosinophilic Fasciitis |
|
Eosinophilia, Myositis, Abnormal eosinophil morphology, Muscular edema, Fasciitis, Arthritis |
ORPHA:3165 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... |
OMIM:616201 |
| Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Cardiomegaly, Osteoporosis, Pleural effusion, Splen... |
OMIM:235200 |
| Matthew-Wood Syndrome |
|
Horseshoe kidney, Cryptorchidism, Renal hypoplasia, Abnormal spleen morphology, Congenital diaphr... |
ORPHA:2470 |
| Hereditary Hemorrhagic Telangiectasia |
|
Microcytic anemia, Hepatic failure, Gastrointestinal hemorrhage, Abnormal cardiovascular system p... |
ORPHA:774 |
| Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia, Pulmonary artery stenosis, Inflammatory abnormality of the skin |
OMIM:617237 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Hepatic steatosis, Homocystinuria, Myocardial infarction, Methioninuria, Scoliosis, ... |
OMIM:236200 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Exocrine pancreatic insufficiency, Congenital hypothyroidism, Hypoplasia of right ventricle, Vent... |
ORPHA:2255 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Achilles tendon contracture, Dilated cardiomyopathy, Pelvic girdle muscle weakness, Restrictive v... |
OMIM:607155 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Chronic oral candidiasis, Hypereosinophilia |
OMIM:212050 |
| Immunodeficiency 92 |
|
Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Thrombocytosis, Hepatomegaly, Osteo... |
OMIM:619652 |
| Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic ane... |
OMIM:232800 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... |
ORPHA:86812 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Respiratory insufficiency, Scoliosis, Hyperlordosis, Spinal rigidity |
OMIM:617404 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Pneumonia, Asthma, Recurrent respiratory infections, Recurrent sinusitis, Atop... |
ORPHA:217390 |
| Idiopathic Achalasia |
|
Gastroesophageal reflux, Cough, Dysphagia, Recurrent aspiration pneumonia, Wheezing, Bronchitis |
ORPHA:930 |
| Mirizzi Syndrome |
|
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... |
ORPHA:521219 |
| Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Autoimmune hemolytic anemia, Erythroderma |
OMIM:610163 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Microglossia, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Clef... |
ORPHA:141152 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Glycosuria, Ventricular septal defect, Patent foramen ovale, Intestinal malrotation, Truncus arte... |
OMIM:600001 |
| Pentalogy Of Cantrell |
|
Absent gallbladder, Tetralogy of Fallot, Abnormal pericardium morphology, Atrial septal defect, H... |
ORPHA:1335 |
| Behçet Disease |
|
Optic neuritis, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Pancreatitis, Mitral ... |
ORPHA:117 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Epistaxis, Fat malabsorption, Intrahepatic cholestasis with episodic jaundice, Sp... |
OMIM:211600 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Sinusitis, Abnormality of the anterior pituitary, Abnormality of the extraocular mu... |
ORPHA:449563 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Hepatic failure, Hemophagocytosis, Infectious encephalitis, Splenomegaly, Hepatomeg... |
OMIM:308240 |
| Alpha-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... |
ORPHA:846 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Left ventricular hypertrophy, Congestive heart failure |
OMIM:619048 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Nephrocalcinosis, Female hypogonadism, Pri... |
OMIM:240300 |
| Trimethylaminuria |
|
Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia |
OMIM:602079 |
| Immunodeficiency 7 |
|
Hypereosinophilia |
OMIM:615387 |
| Netherton Syndrome |
|
Hypereosinophilia, Asthma, Erythroderma, Allergic rhinitis, Intestinal atresia, Villous atrophy, ... |
OMIM:256500 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Intestinal perforation, Hypertension, Pancreatitis, Thrombocytopenia, Acute kidney injury, Myocar... |
ORPHA:544482 |
| Microscopic Polyangiitis |
|
Oliguria, Sinusitis, Uveitis, Gastrointestinal hemorrhage, Hematuria, Arthritis, Arrhythmia, Peri... |
ORPHA:727 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Asthma, Eosinophilia |
OMIM:618092 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatic steatosis, Limb-girdle muscular dystrophy, Muscular dystrophy, Hyperlordosis, Hepatomegal... |
ORPHA:369840 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Hypertension, Scapular winging, Centrally nucleat... |
ORPHA:437572 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Irregular menstruation, Proteinuria, Chronic neutropenia, Anemia, Pulmonary venou... |
ORPHA:79259 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Asthma, Hydronephrosis, Increased inflammatory response, Low back pain, Intest... |
ORPHA:449400 |
| Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Kyphosis, Normocytic anemia, Skeletal muscle atrophy, Congestive heart failure, C... |
OMIM:615512 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Increased inflammator... |
OMIM:209950 |
| Hardikar Syndrome |
|
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hydronephrosis, Hematemesis, ... |
OMIM:301068 |
| Glycogen Storage Disease Xii |
|
Cholelithiasis, Short neck, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocy... |
OMIM:611881 |
| Esophagitis, Eosinophilic, 2 |
|
Esophagitis, Eosinophilia, Dysphagia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Esophagitis, Eosinophilia, Dysphagia |
OMIM:610247 |
| Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Double outlet right ventricle, Productive cough, Male infertility, Recurr... |
ORPHA:244 |
| King-Denborough Syndrome |
|
High palate, Minicore myopathy, Thoracic kyphosis, Short neck, Cryptorchidism, Type 1 muscle fibe... |
OMIM:619542 |
| Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
| Immunodeficiency 32B |
|
Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections |
OMIM:226990 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Iron deficiency anemia, Elevated hepatic transaminase |
OMIM:300752 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Purulent rhinitis, Pneumonia, Arthritis, Panhypogammaglobulinemia, B lymphocyt... |
OMIM:601457 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Atrial flutter, First degree atrioventricular block, Testicular atrophy, Atrial f... |
OMIM:160900 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Achilles tendon contracture, Hyperlordosis, Knee flexion contracture, Hip contracture, Scapular w... |
OMIM:615290 |
| Myopathy, Centronuclear, 2 |
|
High palate, Flexion contracture, Kyphosis, Generalized amyotrophy, EMG: myopathic abnormalities,... |
OMIM:255200 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Proteinuria, Anemia, Scoliosis, Hypertension, Stage 5 chronic kidney disease, Lef... |
OMIM:619487 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
High palate, Thoracic kyphosis, Micropenis, Thoracolumbar scoliosis, Kyphoscoliosis, Recurrent re... |
ORPHA:3041 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis, Anal atresia |
ORPHA:2310 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Hypothyroidism, Recurrent upper respiratory tract infections, ... |
OMIM:615952 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Leukopenia, Gastrointestinal hemorrhage, Maculopapular exanthema, Thrombocyto... |
ORPHA:319218 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... |
OMIM:255120 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal tricuspid valve morphology, Abnormal form of the vertebral bodies, Atrial sept... |
ORPHA:1354 |
| Sarcoidosis |
|
Hypothyroidism, Hepatic failure, Uveitis, Increased T cell count, Maculopapular exanthema, Anemia... |
ORPHA:797 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma |
OMIM:604219 |
| Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Pleural thickening, Decreased eosinophil count, Asthma, Bronchiectasis, Pulmonar... |
OMIM:619632 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Hepatic steatosis, Congestive heart failure, Generalized amy... |
ORPHA:52430 |
| Schimke Immunoosseous Dysplasia |
|
Thoracic kyphosis, Nephrotic syndrome, Short neck, Ovoid vertebral bodies, Proteinuria, Thrombocy... |
OMIM:242900 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Arrhythmia, Skeletal muscle atrophy, Congestive heart failure, Hyperlordosis... |
ORPHA:157973 |
| Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
| Tako-Tsubo Cardiomyopathy |
|
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... |
ORPHA:66529 |
| Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia, Cholelithiasis, Decreased liver function, Eczema, Cirrhosis |
ORPHA:79278 |
| Myopathic Ehlers-Danlos Syndrome |
|
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... |
ORPHA:536516 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Hyperlordosis, High palate |
OMIM:614198 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Shoulder muscle hypoplasia, Eosinophilia, Tetralogy of Fallot, Hepatosplenomegaly, Leukocytosis, ... |
OMIM:274000 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Recurrent otitis media, Hypothyroidism, Uveitis, Chronic neutropenia, Autoimmune he... |
OMIM:614700 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Flexion contracture, Limb-girdle muscle weakness, Muscular dystrophy, Lumbar hyperlordosis, Cardi... |
OMIM:609308 |
| Microgastria-Limb Reduction Defects Association |
|
Unilateral renal agenesis, Absent gallbladder, Cystic renal dysplasia, Splenogonadal fusion, Hors... |
OMIM:156810 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Left ventricular hypertrophy |
OMIM:614654 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Pneumonia, Chronic bronchitis |
OMIM:614069 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly, Scoliosis, Myopath... |
OMIM:618234 |
| Marburg Hemorrhagic Fever |
|
Subconjunctival hemorrhage, Uveitis, Maculopapular exanthema, Pancreatitis, Prolonged prothrombin... |
ORPHA:99826 |
| Gm1 Gangliosidosis |
|
Hepatosplenomegaly, Abnormal form of the vertebral bodies, Kyphosis, Congestive heart failure, In... |
ORPHA:354 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal thoracic spine morphology, Lower limb muscle weakness, Jaundice, Ovarian neoplasm, Back ... |
ORPHA:370348 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... |
OMIM:617514 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Decreased circulating T4 level, Macroglossia |
ORPHA:95717 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Multicyst... |
ORPHA:3032 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Anemia, Scoliosis, Aortic valve calcification, Thrombocytopenia, Abnormal pulmonary... |
ORPHA:2072 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Dilated cardiomyopathy, High palate, Reduced forced vital capacity, Facial palsy, Limb joint cont... |
OMIM:255310 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Flexion contracture, Corneal scarring, Bradycardia, Tachycardia, Hyperhidrosis |
OMIM:614653 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Downslanted palpebral fissures, Microphthalmia, Camptodactyly of finger, Abnormality ir... |
ORPHA:1617 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... |
ORPHA:98863 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... |
OMIM:613470 |
| Peutz-Jeghers Syndrome |
|
Esophageal neoplasm, Abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastr... |
ORPHA:2869 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Keratoconus, Ventricular esc... |
ORPHA:542306 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Skeletal myopathy, Coronary artery stenosis, Vacuolated lymphocytes, Arrhythmia, Abnormality of t... |
ORPHA:565612 |
| Staphylococcal Necrotizing Pneumonia |
|
Nonproductive cough, Pulmonary pneumatocele, Leukocytosis, Leukopenia, Hypoxemia, Pneumonia, Neut... |
ORPHA:36238 |
| Gaucher Disease Type 1 |
|
Pancytopenia, Abnormal myocardium morphology, Bruising susceptibility, Leukopenia, Kyphosis, Bili... |
ORPHA:77259 |
| Severe Combined Immunodeficiency, X-Linked |
|
T lymphocytopenia, Recurrent pneumonia, Pneumonia, Hepatomegaly, Impaired lymphocyte transformati... |
OMIM:300400 |
| Rat-Bite Fever |
|
Lymphadenitis, Erythema nodosum, Parotitis, Arthritis, Maculopapular exanthema, Endocarditis, Myo... |
ORPHA:31205 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... |
ORPHA:98853 |
| Tularemia |
|
Leukocytosis, Erythema nodosum, Pneumonia, Cutaneous abscess, Inflammatory abnormality of the eye... |
ORPHA:3392 |
| Malignant Atrophic Papulosis |
|
Abnormal conjunctiva morphology, Constrictive pericarditis, Gastrointestinal hemorrhage |
OMIM:602248 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Abnormal skeletal muscle morphology, Cryptorchidism, Incr... |
ORPHA:98905 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Polycystic kidney dysplasi... |
ORPHA:731 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Mucopolysaccharidosis, Type Iva |
|
Keratan sulfate excretion in urine, Recurrent upper respiratory tract infections, Abnormal heart ... |
OMIM:253000 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Urinary glycosaminoglycan excretion, Macroglossia, Anemia, Mitral regurgitation, Thr... |
ORPHA:505248 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent otitis media, Hypothyroidism, Rheumatoid arthritis, Scoliosis, Lymphopenia, Juvenile rh... |
OMIM:607944 |
| Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
| Congenital Analbuminemia |
|
Low pulse pressure, Increased circulating antibody level |
ORPHA:86816 |
| Familial Anetoderma |
|
Lumbar hyperlordosis, High, narrow palate |
ORPHA:228277 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Long eyebrows, Atrioventricular block, Joint contracture of the 5th finger |
OMIM:614407 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Ptosis, Microphthalmia, Iris coloboma |
ORPHA:1473 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Fat malabsorption, Megaloblastic anemia, Steat... |
ORPHA:309108 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Punctate keratitis, Hypereosinophilia, Uveitis, Autoimmune hemolytic anemia, Splenomegaly, Hepato... |
OMIM:617388 |
| Timothy Syndrome |
|
Hypothyroidism, Pneumonia, Patent ductus arteriosus, Prolonged QT interval, Bradycardia |
OMIM:601005 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Thoracic kyphosis, Intervertebral space narrowing, Platyspondyly, Lumbar hyperlordosis, Scoliosis... |
OMIM:609223 |
| Wiskott-Aldrich Syndrome |
|
Microcytic anemia, Blepharitis, Anemia, Hematemesis, Otitis media, Abnormal platelet morphology, ... |
ORPHA:906 |
| Gallbladder Disease 1 |
|
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... |
OMIM:600803 |
| Slc35A1-Cdg |
|
Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Giant platelets, Pulmonary hemorrhage, Abnormal pl... |
ORPHA:238459 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... |
ORPHA:98855 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Foveal Hypoplasia 2 |
|
Posterior embryotoxon, Microphthalmia, Axenfeld anomaly, Hypoplasia of the fovea |
OMIM:609218 |
| Sialuria |
|
Cholelithiasis, Hepatosplenomegaly, Sleep apnea, Hepatomegaly, High, narrow palate, Upper airway ... |
ORPHA:3166 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Scoliosis, Abnormal ... |
ORPHA:1548 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal sacrum morphology, Short neck, Hyperlordosis, Recurrent respiratory infections, Scoliosi... |
ORPHA:1797 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Infertility, Hypothyroidism, Oligomenorrhea, Distal amyotrophy, Iridocyclitis, Dysphagia, Pancrea... |
ORPHA:412057 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Central sleep apnea, Organic aciduria, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Congenital hypothyroidism... |
ORPHA:95716 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Achilles tendon contracture, Thoracic scoliosis, Muscular dystrophy, Hyperlordosis, Calf muscle p... |
ORPHA:62 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Eczema, Hepatic failure, Hemolytic anemia |
OMIM:177000 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Schistocytosis, Leukocytosis, Colonic stenosis, Acute kidney injury, Anur... |
ORPHA:90038 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatic steatosis, Endocardial fibroelastosis, Decreased plasma carnitine, Hypertrophic cardiomyo... |
OMIM:212140 |
| Common Variable Immunodeficiency |
|
Emphysema, Gastrointestinal stroma tumor, Abnormality of the liver, Pneumonia, Restrictive ventil... |
ORPHA:1572 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Flexion contracture |
OMIM:614498 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Polycystic ovaries, Cryptorchidism, Hyperlordosis, Secondary amenorrhea, Hypergonadotro... |
ORPHA:3085 |
| Late-Onset Isolated Acth Deficiency |
|
Eosinophilia, Orthostatic hypotension, Normocytic anemia, Hashimoto thyroiditis, Graves disease, ... |
ORPHA:199299 |
| Sudden Cardiac Failure, Infantile |
|
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure |
OMIM:617222 |
| Mucopolysaccharidosis, Type Ivb |
|
Keratan sulfate excretion in urine, Recurrent upper respiratory tract infections, Restrictive ven... |
OMIM:253010 |
| Heme Oxygenase 1 Deficiency |
|
Diffuse alveolar hemorrhage, Thrombocytosis, Coombs-positive hemolytic anemia, Hemolytic anemia, ... |
OMIM:614034 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Hyperprolinemia, Recurrent lower respiratory tract infe... |
OMIM:619170 |
| Achondroplasia |
|
Recurrent otitis media, Spinal stenosis with reduced interpedicular distance, Lumbar hyperlordosi... |
OMIM:100800 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Pneumonia, Hypotension, Bradycardia, Tachycardia |
ORPHA:70587 |
| African Iron Overload |
|
Viral hepatitis, Hepatic steatosis, Increased circulating cortisol level, Congestive heart failur... |
ORPHA:139507 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Proteinuria, Myopathy, Microscopic hematuria, Lymphocytosis |
ORPHA:79087 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Maculopapular exanthema, Increased mean corpuscular hemoglobin concentration, Spl... |
ORPHA:822 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... |
OMIM:603471 |
| Monosomy 18P |
|
Webbed neck, Hypothyroidism, Autoimmunity, Ptosis, Microphthalmia, Hypertension, Epicanthus |
ORPHA:1598 |
| Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... |
OMIM:266265 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypot... |
OMIM:212138 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Hypogonadotropic hypogonadism, Cryptorchidism, Hyperlordosis, Furrowed tongue, Scoli... |
ORPHA:1387 |
| Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Recurrent respiratory ... |
OMIM:619126 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... |
OMIM:616117 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Pancytopenia, Thoracic kyphoscoliosis, Hypothyroidism, Portal hypertension, Reduced forced expira... |
OMIM:613385 |
| Kaposiform Lymphangiomatosis |
|
Subconjunctival hemorrhage, Anemia, Thrombocytopenia, Bruising susceptibility, Ecchymosis, Cough,... |
ORPHA:464329 |
| Immunodeficiency 13 |
|
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... |
OMIM:615518 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Recurrent pneumonia, Kyphosis, Atrial septal defect, Hydronephrosis, Hypospadias,... |
ORPHA:464738 |
| Lymphatic Filariasis |
|
Restrictive ventilatory defect, Hypereosinophilia, Lymphadenitis, Nephrotic syndrome, Orchitis, K... |
ORPHA:2035 |
| Immunodeficiency 14A, Autosomal Dominant |
|
T lymphocytopenia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections, Recurrent sino... |
OMIM:615513 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Microphthalmia, Cataract, Ptosis |
OMIM:120433 |
| Trisomy 8P |
|
Malrotation of small bowel, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Ab... |
ORPHA:264450 |
| Familial Short Qt Syndrome |
|
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... |
ORPHA:51083 |
| Caspase 8 Deficiency |
|
Pneumonia, Asthma, Decreased CD4:CD8 ratio, Splenomegaly, Eczema, Recurrent sinopulmonary infections |
OMIM:607271 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
High palate, Recurrent pneumonia, Pulmonary pneumatocele, Recurrent upper respiratory tract infec... |
OMIM:619752 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportio... |
OMIM:300853 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypo... |
ORPHA:2334 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, Respiratory failu... |
ORPHA:90117 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Microcornea, Cataract |
OMIM:616171 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Hyperventilation, Ventricular septal defect, Bradyca... |
OMIM:618775 |
| Dermatopathia Pigmentosa Reticularis |
|
Abnormal conjunctiva morphology, Hypohidrosis |
OMIM:125595 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bruising susceptibility, Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, My... |
ORPHA:3226 |
| Long Qt Syndrome 15 |
|
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval |
OMIM:616249 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Diastasis recti, Dysplastic tricuspid valve, Hydronephrosis, Hypoplastic left heart, Ventricular ... |
OMIM:265380 |
| Dubin-Johnson Syndrome |
|
Abnormality of the liver, Abnormal urinary color, Hepatomegaly, Jaundice, Abnormal gastric mucosa... |
ORPHA:234 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Flexion contracture, Kyphosis, Generalized amyotrophy, Scoliosis, Myopathy, Dysphagia, Spinal rig... |
OMIM:618323 |
| Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:222800 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Hematochezia, Rhabdomyolysis, Giant cell hepatitis, Elevated hepatic transaminase... |
ORPHA:79095 |
| Typical Nemaline Myopathy |
|
High palate, Nemaline bodies, Flexion contracture, Nocturnal hypoventilation, Foot dorsiflexor we... |
ORPHA:171436 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... |
ORPHA:3202 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcornea, Ptosis |
OMIM:300915 |
| Peripartum Cardiomyopathy |
|
Left ventricular systolic dysfunction, Autoimmunity, Sinus tachycardia, Left bundle branch block,... |
ORPHA:563 |
| Lysinuric Protein Intolerance |
|
Oroticaciduria, Leukopenia, Hemophagocytosis, Skeletal muscle atrophy, Intraalveolar phospholipid... |
OMIM:222700 |
| Masa Syndrome |
|
Hyperlordosis, Kyphosis |
OMIM:303350 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Hepatic steatosis, Flexion contracture, Bradycardia, Muscular dystrophy, Splenomegaly, Hep... |
OMIM:613327 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
| Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Amenorrhea, Purpura, Neutropenia, Anemia, Impotence, Cardiomyopath... |
OMIM:604250 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Scoliosis, Kyphosis |
OMIM:616756 |
| Avian Influenza |
|
Hypoxemia, Tachypnea, Productive cough, Hepatitis, Thrombocytopenia, Lymphopenia, Conjunctivitis,... |
ORPHA:454836 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Interface hepatitis, Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal atresia, ... |
OMIM:243150 |
| Ck Syndrome |
|
High palate, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:300831 |
| Pancreatic And Cerebellar Agenesis |
|
Apnea, Anemia, Pancreatic hypoplasia, Secundum atrial septal defect |
OMIM:609069 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Upslanted palpebral fissure, Sparse lateral eyebrow, Cataract, Astigmatism, Knee flexion contract... |
OMIM:619694 |
| Pauci-Immune Glomerulonephritis |
|
Proteinuria, Scleritis, Macroscopic hematuria, Arteritis, Microscopic hematuria, Pancreatitis, Ab... |
ORPHA:93126 |
| Autosomal Recessive Centronuclear Myopathy |
|
High palate, Bifid uvula, Abnormal heart valve morphology, Scapular winging, Generalized amyotrop... |
ORPHA:169186 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:235700 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Hypovolemic shock, Arrhythmia, Cough, Recurrent upper and lower respiratory tract... |
ORPHA:171876 |
| Cataract 11, Multiple Types |
|
Microphthalmia, Cataract |
OMIM:610623 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Sinus bradycardia, Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb... |
OMIM:616812 |
