| Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Macroglossia, Recurrent respiratory infections, Scoliosis, Thoracolumbar scoliosis, Eosinophilia,... |
OMIM:618523 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepato... |
OMIM:614470 |
| Aspergillosis |
|
Pleuritis, Chronic pulmonary obstruction, Intracranial hemorrhage, Dyspnea, Abnormality of the ve... |
ORPHA:1163 |
| Cystic Echinococcosis |
|
Abnormality of the diaphragm, Biliary tract obstruction, Hepatomegaly, Abnormal heart morphology,... |
ORPHA:400 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy |
OMIM:604765 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Acute hepatic failure, Maculopapular exanthema, Pleural effusion, Hemophagocy... |
OMIM:619644 |
| Eosinophilia, Familial |
|
Leukocytosis, Anemia, Myocardial eosinophilic infiltration, Eosinophilia, Thrombocytopenia, Recur... |
OMIM:131400 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent respiratory infections, High palate, Atopic dermatitis, Pulmonic stenosis, Atrial septa... |
OMIM:618282 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, Inflammation of the large intestine, Colitis, Recurrent pneumonia, B lymphocytopeni... |
OMIM:619281 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Restrictive cardiomyopathy, Endocardial ... |
OMIM:607685 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, S... |
OMIM:226990 |
| Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Scoliosis, Myopathy, Respiratory insufficiency, Hamstr... |
ORPHA:97244 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Irregular vertebral endplates, Hepatomeg... |
OMIM:616651 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Chronic cough, Recurrent o... |
OMIM:617585 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Ulcerative colitis, Eosinophilia, Bronchiectasis, Pneumonia, Colonic eosinophi... |
OMIM:617638 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent sinopulmonary infections, Scoliosis, High palate, Skin rash, Eos... |
OMIM:147060 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Abnormal pleura morphology, Lymphopenia, Arthritis, Eosinophilia |
ORPHA:2582 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Aplastic anemia, Recurrent aphthous stomatitis, Leukemia, Acu... |
ORPHA:486 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Abnormal lymphocyte ... |
OMIM:613953 |
| Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, T lymphocytopenia, Recurrent otitis media, Pneumonia, Ecze... |
OMIM:608971 |
| Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Hemophagocytosis, Granuloma, Colitis, Hepatosplenomegaly, Lym... |
OMIM:619802 |
| Roifman Syndrome |
|
Hepatosplenomegaly, Noncompaction cardiomyopathy, Eosinophilia, Recurrent otitis media, Recurrent... |
ORPHA:353298 |
| Alveolar Echinococcosis |
|
Abnormality of the diaphragm, Abnormal spleen morphology, Abnormality of mesentery morphology, Pu... |
ORPHA:284 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Subarachnoid hemorrhage, Recurrent sinopulmonary infections, Atopic dermatitis, Eczema, Cerebral ... |
OMIM:243700 |
| Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Malabsorption, Transient ischemic attack, Hypertrophic cardiomyopathy, Abnormal peri... |
ORPHA:183 |
| Caroli Syndrome |
|
Polycystic kidney dysplasia, Leukocytosis, Hepatomegaly, Abnormal bleeding, Liver abscess, Leukop... |
ORPHA:480520 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability |
OMIM:614896 |
| Loeffler Endocarditis |
|
Dyspnea, Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Aortic regurgitation, ... |
ORPHA:75566 |
| Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... |
ORPHA:97292 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Intermittent thrombocytopenia, Recurrent lower respiratory tract i... |
OMIM:612541 |
| Ring Dermoid Of Cornea |
|
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Stomatitis, Skin rash, Recurrent bacterial skin infections, Autoimmune thromb... |
ORPHA:911 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Abnormality of the gastrointestinal tract, Dyspnea, Atopic dermatitis, Leukocy... |
ORPHA:2902 |
| Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Reduced left ventricular ejection fraction, Endocarditis, Left ventricular hyper... |
ORPHA:3093 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphopenia, Chronic oral candi... |
ORPHA:169160 |
| Congenital Alveolar Capillary Dysplasia |
|
Hypoplastic left heart, Asplenia, Ventricular septal defect, Tetralogy of Fallot, Atrial septal d... |
ORPHA:210122 |
| Legionnaires Disease |
|
Myocarditis, Proteinuria, Endocarditis, Hypotension, Restrictive ventilatory defect, Lymphopenia,... |
ORPHA:549 |
| Juvenile Temporal Arteritis |
|
Vasculitis, Leukocytosis, Eosinophilia, Allergic rhinitis, Cerebral ischemia, Conjunctivitis |
ORPHA:26137 |
| Dextrocardia |
|
Pancreatic hypoplasia, Situs inversus totalis, Abnormal EKG, Dextrocardia, Abnormality of the ure... |
ORPHA:1666 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Scoliosis, Short neck, Respiratory insuf... |
OMIM:300718 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Acute hepatic failure, Cardiac arrest, Dyspnea, Tubulointerstitial nephritis, Skin r... |
ORPHA:139402 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Flexion contra... |
OMIM:618815 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Leukocytosis, Hypotension, Cough, Pancreatitis, Renal insufficiency, Arrhythmia, Car... |
ORPHA:188 |
| Acute Myelomonocytic Leukemia |
|
Dyspnea, Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Abnormal bleeding |
ORPHA:517 |
| Bronchogenic Cyst |
|
Abnormality of the peritoneum, Dyspnea, Abnormality of the diaphragm, Atelectasis, Cough, Abnorma... |
ORPHA:2357 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hepatosplenomegaly, Hemolytic anemia, Impaired oxidative burst, Abscess, Anal fissure, Granuloma,... |
OMIM:618935 |
| Scleroderma |
|
Myocarditis, Episcleritis, Transient ischemic attack, Abnormal stomach morphology, Intestinal ble... |
ORPHA:801 |
| Pgm3-Cdg |
|
Chronic otitis media, Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T... |
ORPHA:443811 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Renal insufficiency, Cardiomyopathy, Hepatomegaly, Respiratory distress, Th... |
ORPHA:79312 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Leukocytosis, Chronic hepatitis, Malabsorption, Intracrania... |
ORPHA:3260 |
| Omenn Syndrome |
|
Leukocytosis, Anemia, Hepatomegaly, Abnormal lymphocyte morphology, Nephrotic syndrome, Splenomeg... |
ORPHA:39041 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Respiratory insufficiency, Pancreatitis, Kyphoscoliosis, Dysphagia |
OMIM:618230 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Orbital cyst, Microphthalmia |
OMIM:251505 |
| Nemaline Myopathy 2 |
|
Scoliosis, Respiratory insufficiency due to muscle weakness, Type 1 muscle fiber predominance, Sp... |
OMIM:256030 |
| Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Pulmonary arterial hypertension, Proteinuria, Abnormal intestine morph... |
ORPHA:1830 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, High palate, Scoliosis, Hemolytic anemia, Abscess, Neutropenia,... |
OMIM:615816 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... |
ORPHA:169154 |
| Shwachman-Diamond Syndrome |
|
Hypopituitarism, Hepatomegaly, Macrocytic anemia, Abnormal heart morphology, Acute myeloid leukem... |
ORPHA:811 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Epicanthus, Patent ductus arteriosus, Hypertrophic cardiomyopathy |
OMIM:616276 |
| Cystic Fibrosis |
|
Chronic sinusitis, Meconium ileus, Hepatomegaly, Reduced forced vital capacity, Male infertility,... |
OMIM:219700 |
| Stevens-Johnson Syndrome |
|
Abnormal myocardium morphology, Myocardial infarction, Acute hepatic failure, Recurrent respirato... |
ORPHA:36426 |
| Immunodeficiency 88 |
|
Asthma, Eosinophilia |
OMIM:619630 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Bone marrow hypocellularity, Refractory anemia, Monocytosis, Eczema, Asthma, Acute my... |
OMIM:616871 |
| Immunodeficiency 7 |
|
Recurrent respiratory infections, Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, C... |
OMIM:615387 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Eosin... |
OMIM:618999 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Pancreatitis, Renal insufficiency, Hepatomegaly, Renal tubular dysfunction, Respiratory d... |
ORPHA:289916 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Distal lower limb amyotrophy, Nonprogressive muscular atrophy, Scoliosis, Spinal muscular atrophy... |
OMIM:600175 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Atopic dermatitis, Leukocytosis, Hematochezia, Anemia,... |
ORPHA:2070 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Ma... |
OMIM:603909 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Respiratory insufficiency, Pancreatitis, Renal insufficiency, Cardiomyopathy,... |
ORPHA:27 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
| Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Neck joint contracture, Thoracolumbar scoliosis, Skeletal muscle atrophy, S... |
OMIM:255600 |
| Ichthyosis-Prematurity Syndrome |
|
Neonatal respiratory distress, Eosinophilia |
ORPHA:88621 |
| Myopathy, Distal, 1 |
|
High palate, Tibialis anterior muscle atrophy, Scoliosis, Lumbar hyperlordosis, Left atrial enlar... |
OMIM:160500 |
| Propionic Acidemia |
|
Increased level of hippuric acid in urine, Limb hypertonia, Anemia, Pancreatitis, Cardiomyopathy,... |
OMIM:606054 |
| Igg4-Related Pachymeningitis |
|
Dyspnea, Low back pain, Lower limb muscle weakness, Pancreatitis, Lymphadenitis, Parotitis, Eosin... |
ORPHA:449427 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Recurrent respiratory infections, Leukopenia, Chronic pulmonary obstruction, ... |
OMIM:618986 |
| Beta-Thalassemia Intermedia |
|
Leukocytosis, Hypoparathyroidism, Hepatomegaly, Proximal tubulopathy, Decreased liver function, H... |
ORPHA:231222 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Spondylolysis, Spondylolisthesis at L5-S1, Lumbar hyperlordosis, Atlantoaxial instability, Respir... |
OMIM:600561 |
| Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy, Restrictive cardiomyopathy, Dilated cardiomyopathy, H... |
OMIM:601419 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
High palate, Scoliosis, Respiratory insufficiency, Respiratory insufficiency due to muscle weakne... |
OMIM:161800 |
| Toxic Epidermal Necrolysis |
|
Malabsorption, Abnormal myocardium morphology, Intestinal perforation, Acute hepatic failure, Rec... |
ORPHA:537 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Arrhythmia, Cardiomyopathy, EMG: myopathic abnormalities, Ragged-red muscle fibers, Bra... |
OMIM:609286 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... |
OMIM:212050 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Pancreatitis, Renal insufficiency,... |
OMIM:619386 |
| Immunodeficiency 48 |
|
Eczematoid dermatitis, Recurrent respiratory infections, Absence of CD8-positive T cells, Hepatom... |
OMIM:269840 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Scoliosis, Muscle fiber splitting, Restrictive ventilatory defect, Type 1 muscle fiber predominan... |
OMIM:253700 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Lower limb amyotrophy, Proximal muscle weakness in lower limbs, Scoliosis, Spinal muscular atroph... |
OMIM:615290 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Helicobacter pylori infection, Lymphopenia, Monocytopenia, Abnorma... |
ORPHA:2688 |
| Nemaline Myopathy 7 |
|
High palate, Minicore myopathy, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Respirator... |
OMIM:610687 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Diffuse mesangial sclerosis, Skin rash, Reduced red cell ad... |
OMIM:102700 |
| Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Hepatomegaly, Gastritis, Neoplasm of the tongue, Abnormal bleeding, Decreased proportion... |
ORPHA:3261 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Va... |
OMIM:601859 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Leukopenia, Pancreatitis, Cardiomyo... |
OMIM:251000 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Atri... |
OMIM:208540 |
| Beta-Thalassemia |
|
Anemia, Respiratory insufficiency, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatiti... |
ORPHA:848 |
| Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Leukemia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Intestinal malrotation, Congenital pulmonary airway malformation, Hashi... |
ORPHA:436252 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Microcyt... |
OMIM:618805 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Proximal amyotrophy, Muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle... |
OMIM:614302 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Spinal muscular atrophy, Distal lower limb muscle weakness, Distal amyotrophy, Reduced vital capa... |
OMIM:607088 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Hypereosinophilia, Villous atrophy, Chronic rhinitis, Recurrent... |
OMIM:256500 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia, Neonatal death |
OMIM:257100 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Anal atresia, Cervical instability, Thoracolumbar kyphosis, Lymphopenia, Eosinophilia, Platyspond... |
OMIM:617425 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Epicanthus, Upslanted palpebral fissure, Microphthalmia, Microcornea |
ORPHA:2528 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Ileus, Anemia, Autoimmune thrombocytopenia, Neutropenia, Villous atrophy, Art... |
OMIM:304790 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Proximal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Scapula... |
OMIM:253600 |
| Granulomatosis With Polyangiitis |
|
Chronic otitis media, Pleuritis, Chronic pulmonary obstruction, Angina pectoris, Epistaxis, Recur... |
ORPHA:900 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Scoliosis, Lumbar hyperlordosis, Respiratory insufficiency, Type 1 muscle fiber predominance, Dis... |
OMIM:619042 |
| Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Cleft palate, Acne, Abnormal aortic valve morphology, Hyperlordo... |
ORPHA:577 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Dysmenorrhea, Primary amenorrhea, Myopathy, Pancreatitis, Polycystic ovaries, Hyp... |
ORPHA:79083 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Recurrent respiratory infections, Neonatal respiratory distress, Dextroca... |
OMIM:615482 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Restrictive ventilatory defect, Cough, Abnormal pleura morphology, Respiratory insufficiency, Abn... |
ORPHA:724 |
| Cln3 Disease |
|
Vacuolated lymphocytes, Cataract, Left ventricular hypertrophy, Acne, Bradycardia, T-wave inversion |
ORPHA:228346 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Elev... |
OMIM:613490 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count, Chronic oral candidiasis |
OMIM:615592 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia |
OMIM:611938 |
| Cach Syndrome |
|
Hepatosplenomegaly, Premature ovarian insufficiency, Optic neuritis, Arthrogryposis multiplex con... |
ORPHA:135 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Abnormal macrophage morphology, Scoliosis, Lumbar hyperlordosis, Left ventricular s... |
ORPHA:353 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hyperammonemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase... |
OMIM:600649 |
| Sandhoff Disease |
|
Recurrent respiratory infections, Hepatomegaly, Kyphosis, Congestive heart failure, Splenomegaly |
ORPHA:796 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Abnormal B cell count, Skin rash, Decreased proportion of CD3-positive T cell... |
ORPHA:331206 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Lymphopenia, Eosinophilia, B lymphocytopenia, Pneumonia, Rec... |
OMIM:602450 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Elevated hepatic tra... |
ORPHA:65682 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Skin rash, Anemia, Uveitis, Arthritis, Eosinophilia |
OMIM:607115 |
| Cyclic Neutropenia |
|
Peritonitis, Lymphopenia, Respiratory tract infection, Decreased eosinophil count, Tooth abscess,... |
ORPHA:2686 |
| Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
| Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Myopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,... |
OMIM:603034 |
| Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Intestinal hypoplasia, Duodenal atresia... |
OMIM:601346 |
| Exercise-Induced Malignant Hyperthermia |
|
Rhabdomyolysis, Abnormal T-wave, Hypotension, Sinus tachycardia, Abnormal pulse pressure, ST segm... |
ORPHA:466650 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections, Abnormally low T cell... |
OMIM:618806 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Scoliosis, Proximal amyotrophy, Respiratory insufficiency, Kyphosis, Spinal rigidity, Hyperlordosis |
OMIM:617404 |
| Coccidioidomycosis |
|
Peritonitis, Granuloma, Vasospasm, Abnormality of the spleen, Erythema nodosum, Vasculitis, Abnor... |
ORPHA:228123 |
| Vernal Keratoconjunctivitis |
|
Punctate keratitis, Abnormal conjunctiva morphology, Pruritus, Abnormal cornea morphology, Cornea... |
ORPHA:70476 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Scoliosis, Spinal muscular atrophy, Distal amyotrophy, Respiratory insufficiency due to muscle we... |
OMIM:611067 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Scoliosis, Proximal amyotrophy, Shoulder girdle muscle weakness, Vertebral fusion, ... |
OMIM:606612 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Cryptorchidism, Scoliosis, Micropenis, Left ventricular systolic dysfunction, Left ... |
OMIM:613156 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Chronic otitis media, Recurrent respiratory infections, Scoliosis, Atelectasis, Skin rash, Cough,... |
ORPHA:2314 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Spider hemangioma, C... |
ORPHA:171 |
| Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Bradyc... |
ORPHA:95717 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Facial telangiectasia, ... |
OMIM:602782 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Ovoid vertebral bodies, Vertebral wedging, Kyphosis, Beaking of vertebral bodies, Hype... |
ORPHA:40 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Liver abscess, Intrahepatic cholestasis, Neoplasm of the l... |
ORPHA:69663 |
| Microsporidiosis |
|
Peritonitis, Myocarditis, Urethritis, Bronchiolitis, Abnormality of the spleen, Decreased proport... |
ORPHA:2552 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Cryptorchidism, Anemia, Abnormal mitral valve morphology, Nephropathy, Hypertension,... |
ORPHA:1192 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, C... |
OMIM:612444 |
| Zygomycosis |
|
Peritonitis, Myocarditis, Atelectasis, Colitis, Gastritis, Pneumothorax, Splenic abscess, Epistax... |
ORPHA:73263 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Cryptorchidism, Hyperlordosis, Myopathy |
ORPHA:408 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Dysmenorrhea, Myopathy, Pancreatitis, Polycystic ovaries, Skeletal muscle hypertrophy, Hepatomega... |
ORPHA:2348 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
High palate, Scoliosis, Lower limb muscle weakness, Skeletal muscle atrophy, Kyphosis, Joint cont... |
OMIM:611225 |
| Congenital Pancreatic Cyst |
|
Pancreatitis, Jaundice |
ORPHA:313906 |
| Lipoma Of The Conjunctiva |
|
Conjunctival lipoma |
OMIM:151700 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Hydronephrosis, Superficial dermal perivascular inflammatory infiltrate, C... |
ORPHA:83617 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Cardiomyopathy, Hepatomegaly, Abnormal heart morphology, Acute pancr... |
ORPHA:26791 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Scoliosis, Lumbar hyperlordosis, Congenital foot contractures, Paraspinal muscle hypertrophy, Kne... |
OMIM:602484 |
| Omenn Syndrome |
|
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Splenomegaly, Eosinophi... |
OMIM:603554 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Microphthalmia |
ORPHA:2432 |
| Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
| Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Skin rash, Anemia, Abnor... |
ORPHA:229717 |
| Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Recurrent respiratory infections, Neonatal respiratory distress, Chronic ... |
OMIM:613807 |
| Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Fibrocystic lung disease, Eosinophilia, Recurrent pneumonia, Melena, Cor pu... |
OMIM:158310 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Distal lower limb muscle weakness, Horseshoe kidney, Hepatomegaly, Decreased proportion of CD4-po... |
ORPHA:508533 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... |
OMIM:616201 |
| Chylous Ascites |
|
Pancreatitis, Abnormal intestine morphology |
ORPHA:1160 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Distal lower limb amyotrophy, Shoulder girdle muscle weakness, Hand muscle weakness, Abnormality ... |
ORPHA:363454 |
| Sickle Cell Disease |
|
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Renal insufficiency, ... |
OMIM:603903 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Polycystic ovaries, Pancreatitis, Hypertension, Hepatomegaly, Hepatic steatosis |
ORPHA:79084 |
| Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology |
ORPHA:482 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Anteriorly placed anus, Duodenal atresia, Cholestasis, Malabsorption, Jeju... |
OMIM:615710 |
| Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Dyspnea, Hypotension, Pancreatitis, Hypoxemia, Abnormal blood gas level, Pulmonary ed... |
ORPHA:70578 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
| Acute Lung Injury |
|
Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory distress, Acute pancreati... |
ORPHA:178320 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Cardiomyopathy, Microphthalmia, Facial... |
OMIM:613155 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chr... |
ORPHA:98849 |
| Congenital Myopathy 16 |
|
High palate, Scoliosis, Lumbar hyperlordosis, EMG: myopathic abnormalities, Scapular winging, Spi... |
OMIM:618524 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Autoimmunity, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia,... |
ORPHA:277 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Asthma, Eosinophilia |
OMIM:618092 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Patent ductus art... |
OMIM:618782 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Lumbar hyperlordosis, Thoracic kyphosis, Left ventricular hypertrophy, Abnormality of the shoulde... |
ORPHA:206546 |
| Sickle Cell Anemia |
|
Leukocytosis, Reticulocytosis, Hemolytic anemia, Pigment gallstones, Cholestasis, Hypochromic ane... |
ORPHA:232 |
| Primary Lipodystrophy |
|
Myopathy, Polycystic ovaries, Pancreatitis, Cardiomyopathy, Skeletal muscle hypertrophy, Hyperten... |
ORPHA:90970 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, ... |
OMIM:312863 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Gingival bleeding, Leukocytosis, Hepatomegaly, Acute pancreatitis, Bundle branch blo... |
ORPHA:99827 |
| Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Ast... |
ORPHA:1164 |
| Caroli Disease |
|
Cholangitis, Polycystic kidney dysplasia, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cho... |
ORPHA:53035 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Lumbar hyperlordosis, Limb-girdle muscular dystrophy, Ca... |
ORPHA:280333 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption, Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrh... |
OMIM:211600 |
| Igg4-Related Kidney Disease |
|
Pleuritis, Chronic sinusitis, Inflammatory abnormality of the skin, Enlarged kidney, Urethritis, ... |
ORPHA:449395 |
| Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Glossitis, Gastroesophageal reflux, Megaloblastic anemia, Cheil... |
ORPHA:90045 |
| Hereditary Hemorrhagic Telangiectasia |
|
Transient ischemic attack, Cholelithiasis, Epistaxis, Conjunctival telangiectasia, Subarachnoid h... |
ORPHA:774 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Cholestasis, Thoracolumbar scolio... |
OMIM:610199 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Interface hepatitis, Cholestatic liver disease, Inflammation of the large intestine, Granulomatou... |
ORPHA:562639 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus, Epicanthus, Aplasia/Hypoplasia of the optic nerve, Bradycardia, Third d... |
ORPHA:40366 |
| Familial Mediterranean Fever |
|
Peritonitis, Pleuritis, Nephrocalcinosis, Erysipelas, Malabsorption, Osteoarthritis, Myocardial i... |
ORPHA:342 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Lower limb muscle weakness, Pelvic girdle amyotrophy, Hamstring contractures, Muscular dystrophy,... |
ORPHA:267 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Keratoconjunctivitis, Premature ovarian insufficiency, Nephrocalcinosis, Chronic active hepatitis... |
OMIM:240300 |
| Gallbladder Disease 1 |
|
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Elev... |
OMIM:600803 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Myopathy, Multiple joint contractures, Obstructive sleep apnea, Limb-girdle muscle weakness, Hype... |
ORPHA:352470 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Scoliosis, Lumbar hyperlordosis, Left ventricular hypertrophy, Cough, Type 1 muscle fibe... |
ORPHA:86812 |
| Eosinophilic Fasciitis |
|
Muscular edema, Arthritis, Fasciitis, Eosinophilia, Myositis, Abnormal eosinophil morphology |
ORPHA:3165 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... |
OMIM:617237 |
| Mccune-Albright Syndrome |
|
Scoliosis, Renal phosphate wasting, Cholestasis, Increased circulating cortisol level, Renal tubu... |
ORPHA:562 |
| Pauci-Immune Glomerulonephritis |
|
Decreased glomerular filtration rate, Proteinuria, Dyspnea, Granulomatosis, Glomerular sclerosis,... |
ORPHA:93126 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Pneumonia |
OMIM:247800 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Minicore myopathy, Myopathy, Calf muscle hypertrophy, Arrhythmia, Severely reduced left ventricul... |
OMIM:611705 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, Erythroderma, T lymphocytopenia |
OMIM:610163 |
| Atelosteogenesis, Type Ii |
|
Scoliosis, Lumbar hyperlordosis, Short neck, Respiratory insufficiency, Coronal cleft vertebrae, ... |
OMIM:256050 |
| Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
| Heme Oxygenase 1 Deficiency |
|
Chemosis, Diffuse alveolar hemorrhage, Asplenia, Hemolytic anemia, Increased circulating interleu... |
OMIM:614034 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia, Shoulder girdle muscle weakness, Weakness of facial musculature, Scapular w... |
OMIM:619477 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Patent foramen ovale, Conge... |
ORPHA:2255 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Scoliosis, Pancreatitis, Homocystinuria, Hepatic steatosis, Myocardial infarction, M... |
OMIM:236200 |
| Mirizzi Syndrome |
|
Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Elevated ... |
ORPHA:521219 |
| Idiopathic Achalasia |
|
Bronchitis, Gastroesophageal reflux, Cough, Dysphagia, Recurrent aspiration pneumonia, Wheezing |
ORPHA:930 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal spleen morphology, Horseshoe kidney, Pulmonary hypoplasia, Congenital di... |
ORPHA:2470 |
| Glycogen Storage Disease Vii |
|
Jaundice, Reticulocytosis, Gout, Hemolytic anemia, Exercise-induced myoglobinuria, Reduced erythr... |
OMIM:232800 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis, Recurrent upper respiratory tract infections |
OMIM:620137 |
| Igg4-Related Aortitis |
|
Hydronephrosis, Hypereosinophilia, Low back pain, Intestinal obstruction, Asthma, Increased infla... |
ORPHA:449400 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Macroglossia, Scoliosis, Vertebral fusion, Shoulder girdle muscle weakness, Exercise-induced myog... |
OMIM:607155 |
| Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
| Mucopolysaccharidosis, Type Iva |
|
Scoliosis, Short neck, Restrictive ventilatory defect, Cervical subluxation, Ovoid vertebral bodi... |
OMIM:253000 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal thoracic spine morphology, Jaundice, Torticollis, Anemia, Lower limb muscle weakness, Pa... |
ORPHA:370348 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Aspiration pneumonia, Cleft palate, Respiratory distress, Upper airway obstruction, Micr... |
ORPHA:141152 |
| Behçet Disease |
|
Pleuritis, Malabsorption, Keratoconjunctivitis sicca, Abnormal myocardium morphology, Myocardial ... |
ORPHA:117 |
| Hemochromatosis, Type 1 |
|
Hepatocellular carcinoma, Osteoporosis, Cardiomyopathy, Hepatomegaly, Elevated hepatic transamina... |
OMIM:235200 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Perimembranous ventricular ... |
OMIM:600001 |
| Microscopic Polyangiitis |
|
Peritonitis, Vasculitis, Skin rash, Pancreatitis, Uveitis, Renal insufficiency, Gastrointestinal ... |
ORPHA:727 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Chronic otitis media, Recurrent respiratory infections, Atopic dermatitis, Recurrent bacterial sk... |
ORPHA:217390 |
| Pentalogy Of Cantrell |
|
Scoliosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pulmonary hypopl... |
ORPHA:1335 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure, Left ventricular hypertrophy |
OMIM:619048 |
| Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
| Igg4-Related Ophthalmic Disease |
|
Cholangitis, Orchitis, Abnormality of the anterior pituitary, Colon cancer, Pancreatitis, Neoplas... |
ORPHA:449563 |
| King-Denborough Syndrome |
|
High palate, Cryptorchidism, Minicore myopathy, Scoliosis, Lumbar hyperlordosis, Ventricular sept... |
OMIM:619542 |
| Trimethylaminuria |
|
Anemia, Hypertension, Recurrent pneumonia, Tachycardia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Liver Disease, Severe Congenital |
|
Peritonitis, Status asthmaticus, Ventricular septal defect, Atrial septal defect, Hepatomegaly, S... |
OMIM:619991 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Pulmonary hypoplasia, Abnormal biliary tract morphology, Ab... |
ORPHA:3032 |
| Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Esophagitis, Eosinophilia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Esophagitis, Eosinophilia |
OMIM:610247 |
| Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Chronic pulmonary obstruction, Distal lower limb muscle weakness, Hand muscle weakness, Increased... |
ORPHA:437572 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Gingival bleeding, Recurrent lower re... |
OMIM:301000 |
| Triosephosphate Isomerase Deficiency |
|
Jaundice, Normocytic anemia, Hemolytic anemia, Myopathy, Respiratory insufficiency, Respiratory i... |
OMIM:615512 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Enlarged kidney, Pulmonary venous hypert... |
ORPHA:79259 |
| Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pleuritis, Leukocytosis, Hemolytic anemia, Intestinal perforation, Dyspnea, Hyperten... |
ORPHA:544482 |
| Immunodeficiency 92 |
|
Cholangitis, Decreased proportion of class-switched memory B cells, Leukocytosis, Hepatomegaly, E... |
OMIM:619652 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Scoliosis, Ileus, Pyloric stenosis, Tachycardia, Muscular dystrophy, Atrial fibrillation, Skeleta... |
OMIM:613327 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Muscle fiber splitting, Calf muscle hypertrophy, Type 1 muscle fiber predominance, Ske... |
OMIM:617760 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Cholelithiasis, Elevated hepatic transaminase |
OMIM:300752 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia |
ORPHA:464370 |
| Sarcoidosis |
|
Maculopapular exanthema, Nephrocalcinosis, Hemolytic anemia, Keratoconjunctivitis sicca, Hepatome... |
ORPHA:797 |
| Hardikar Syndrome |
|
Ventricular septal defect, Cholestasis, Hydroureter, Atrial septal defect, Hepatomegaly, Prolonge... |
OMIM:301068 |
| Ebola Hemorrhagic Fever |
|
Dyspnea, Maculopapular exanthema, Leukopenia, Cough, Lymphopenia, Hepatitis, Acute pancreatitis, ... |
ORPHA:319218 |
| Cataract 9, Multiple Types |
|
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea |
OMIM:604219 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Keratoconus, Bradycardia, Ventricular esc... |
ORPHA:542306 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Abnormal bronchus physiology, Leukocytosis, Anemia, Histiocytosis, Pneumonia,... |
OMIM:209950 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Chronic otitis media, Recurrent sinopulmonary infections, Chronic sinusit... |
ORPHA:244 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal mitral valve morphology, Kyphosis, Abno... |
ORPHA:1354 |
| Myasthenic Syndrome, Congenital, 14 |
|
High palate, Scoliosis, Type 1 muscle fiber predominance, Weakness of facial musculature, Knee fl... |
OMIM:616228 |
| Aicardi-Goutieres Syndrome 9 |
|
Scoliosis, Hemolytic anemia, Hepatomegaly, Chilblains, Acute pancreatitis, Lower limb hypertonia,... |
OMIM:619487 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Camptodactyly of finger, Downslanted palpebral fissures, Microphthalmia, Abnormality ir... |
ORPHA:1617 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormality of the calf musculature, Vacuolated lymphocytes, Dyspnea, Inflammatory abnormality of... |
ORPHA:565612 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Hypogonadism, Facial diplegia, First degree atrioventricular block, Respirato... |
OMIM:160900 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, ... |
OMIM:300400 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
High palate, Scoliosis, Lumbar hyperlordosis, Respiratory insufficiency, Respiratory insufficienc... |
OMIM:255310 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Abnormal intestine morp... |
OMIM:615952 |
| Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia, Cirrhosis, Decreased liver function, Cholelithiasis, Eczema |
ORPHA:79278 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Abnormality of the gastrointestinal tract, Nasal polyposis, Anemia, Abnor... |
ORPHA:2869 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
| Sialuria |
|
Hepatosplenomegaly, Prolonged prothrombin time, Hepatomegaly, Elevated hepatic transaminase, High... |
ORPHA:3166 |
| Tularemia |
|
Leukocytosis, Increased circulating antibody level, Anemia, Skin rash, Conjunctivitis, Conjunctiv... |
ORPHA:3392 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block, Joint contracture of the 5th finger, Long eyebrows |
OMIM:614407 |
| Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Chronic lu... |
OMIM:617514 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Recurrent lower respiratory tract infections, Perimembranous ventricular septal ... |
OMIM:619170 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Dyspnea, Shoulder girdle muscle weakness, Myopathy, Obstructive sleep apnea, Pelvic girdle muscle... |
OMIM:615156 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Scoliosis, Bacterial endocarditis, Spontaneous, recurrent epistaxis, Abnormality of the spleen, C... |
ORPHA:2072 |
| Sudden Cardiac Failure, Infantile |
|
Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... |
OMIM:617222 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Anal atresia, Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Proteinuria, Inflammation of the large intestine, Gout, Enlarged kidney... |
OMIM:232220 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Congenital Analbuminemia |
|
Low pulse pressure, Increased circulating antibody level |
ORPHA:86816 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Muscular dystrophy, Cardiomyopathy, Hypoglycosylation of alpha-dystroglycan... |
OMIM:609308 |
| Gaucher Disease Type 1 |
|
Proteinuria, Pulmonary arterial hypertension, Gingival bleeding, Leukopenia, Biliary tract obstru... |
ORPHA:77259 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... |
OMIM:613470 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Maculopapular exanthema, Internal hemorrhage, Abnormal ble... |
ORPHA:99826 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Muscular dystrophy, Skeletal muscle ... |
OMIM:616812 |
| Myopathy, Centronuclear, 2 |
|
High palate, Scoliosis, Respiratory insufficiency due to muscle weakness, EMG: myopathic abnormal... |
OMIM:255200 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Myopathy, Respiratory insufficiency, Arrhythmia, Skeletal muscle atrophy, Spinal rigidity, Conges... |
ORPHA:157973 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Vasculitis, Hemophagocytosis, Aplastic anemia, Fulminant hepati... |
OMIM:308240 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Recurrent respiratory infections, Decreased testicular size, High palate, Lumbar hyperlordosis, M... |
ORPHA:3041 |
| Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Pneumonia, Hypo... |
OMIM:601005 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Colitis, B lymphocytopenia, Hypothyroidism, Erythema nodosum, Recurrent respiratory infections, R... |
OMIM:614700 |
| Myopathic Ehlers-Danlos Syndrome |
|
Scoliosis, Decreased muscle mass, Weakness of facial musculature, Knee flexion contracture, Kypho... |
ORPHA:536516 |
| Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Hepatosplenomegaly, Scoliosis, Lower limb muscle weakness, Respiratory insufficiency due to muscl... |
ORPHA:2590 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616277 |
| Wiskott-Aldrich Syndrome |
|
Chronic otitis media, Gingival bleeding, Chronic pulmonary obstruction, Hemolytic anemia, Intracr... |
ORPHA:906 |
| Gm1 Gangliosidosis |
|
Macroglossia, Recurrent respiratory infections, Camptodactyly of finger, Aplasia/Hypoplasia of th... |
ORPHA:354 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulati... |
OMIM:255120 |
| Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Tricuspid regurgitation, Atrial flu... |
OMIM:614022 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Microphthalmia, Posterior embryotoxon, Axenfeld anomaly |
OMIM:609218 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Weakness of muscles of respiration, Abnormality of the vertebral column, Cardiomyopathy, Urinary ... |
ORPHA:52430 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Spinal r... |
ORPHA:98863 |
| Fucosidosis |
|
Macroglossia, Recurrent respiratory infections, Vacuolated lymphocytes, Scoliosis, Lumbar hyperlo... |
OMIM:230000 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Staphylococcal Necrotizing Pneumonia |
|
Dyspnea, Tachypnea, Leukocytosis, Leukopenia, Hypotension, Cough, Hypoxemia, Nonproductive cough,... |
ORPHA:36238 |
| Malignant Atrophic Papulosis |
|
Abnormal conjunctiva morphology, Gastrointestinal hemorrhage, Constrictive pericarditis |
OMIM:602248 |
| Emery-Dreifuss Muscular Dystrophy |
|
Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Spinal r... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Spinal r... |
ORPHA:98853 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Rat-Bite Fever |
|
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Skin rash,... |
ORPHA:31205 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Oligomenorrhea, Hypogonadism, Distal amyotrophy, Pancreatitis, Infertility, Delayed menarche, Dys... |
ORPHA:412057 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Uveitis, Keratoconjunctivitis sicca, Hepatomegaly, Autoimmune hemolytic anemia... |
OMIM:617388 |
| Dietary Iron Overload Disease |
|
Peritonitis, Hepatocellular carcinoma, Esophageal carcinoma, Hepatic bridging fibrosis, Increased... |
ORPHA:139507 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Protein-losing enteropathy, Hypoventil... |
ORPHA:731 |
| Late-Onset Isolated Acth Deficiency |
|
Graves disease, Premature ovarian insufficiency, Normocytic anemia, Adrenocorticotropin deficient... |
ORPHA:199299 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Scoliosis, Type 1 muscle fiber predominance, Respiratory failure, Recurrent respiratory infection... |
ORPHA:98905 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Iris coloboma, Microphthalmia, Ptosis |
OMIM:300915 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:610623 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature v... |
OMIM:212138 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Atrial septal defect, Heavy proteinuria, Abnormal heart morphology, Tricuspid re... |
ORPHA:505248 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Aspiration pneumonia, Central sleep apnea, Pancreatitis, Renal tubular acidosis, Organic aciduria |
ORPHA:431361 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatocellular carcinoma, Pancreatitis, Elevated circulating alanine aminotransferase concentrati... |
OMIM:603471 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Iris coloboma, Microphthalmia, Corneal opacity, Posterior embryotoxon, Ptosis |
ORPHA:1473 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs, Scoliosis, Kyphosis, Abnormal ... |
ORPHA:1548 |
| Myasthenic Syndrome, Congenital, 16 |
|
High palate, Hyperlordosis, Apnea |
OMIM:614198 |
| Carnitine Deficiency, Systemic Primary |
|
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Decreased carnitin... |
OMIM:212140 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Scoliosis, Hypothyroidism, Kyphoscoliosis, Recurrent respiratory infections, Restrictive ventilat... |
OMIM:607944 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypopituitarism, High palate, Restrictive ventilatory defect, Hypochromic anemia, Pappenheimer bo... |
OMIM:600462 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Eczema, Hepatic failure, Hemolytic anemia |
OMIM:177000 |
| Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Transient ischemic attack, Bilate... |
OMIM:242900 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Recurrent otitis media, Bronchiolitis, Periodontitis, Pneumonia... |
OMIM:266265 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Scoliosis, Absent muscle fiber emerin, Spinal rigidity, Achilles tendon contracture, Supraventric... |
ORPHA:98855 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Decreased CD4:CD8 ratio, Pneumonia, Eczema, Asthma, Splenomegaly |
OMIM:607271 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Arthritis, Purulent rhinitis, B lymphocytopenia, Pneumonia, Panhypogammaglobulinemia, Conjunctivi... |
OMIM:601457 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Recurrent lower respiratory tract infections, Decreased eosinophil count, Pleura... |
OMIM:619632 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
| Familial Anetoderma |
|
Lumbar hyperlordosis, High, narrow palate |
ORPHA:228277 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
| Slc35A1-Cdg |
|
Hypoxemia, Abnormal platelet granules, Respiratory distress, Giant platelets, Thrombocytopenia, P... |
ORPHA:238459 |
| Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Positive perchlorate discharge test, Decreased circulating T4 concentration, Increa... |
ORPHA:95716 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Acute kidney injury, Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemi... |
ORPHA:90038 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Kyphosis, Hypergonadotropic hypogo... |
ORPHA:3085 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Recurrent respiratory infections, Bronchiectasis, Decreased proportion of cla... |
OMIM:619126 |
| Hereditary Spherocytosis |
|
Jaundice, Maculopapular exanthema, Gout, Reticulocytosis, Increased mean corpuscular hemoglobin c... |
ORPHA:822 |
| Braddock-Carey Syndrome 1 |
|
Camptodactyly, Anteriorly placed anus, Ventricular septal defect, Cleft palate, Thrombocytopenia,... |
OMIM:619980 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Irregular vertebral endplates, Platyspondyly,... |
OMIM:609223 |
| Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hydronephrosis, Pulmonary arterial hypertension, Scoliosis, Furrowed tongue, Ventricular septal d... |
ORPHA:464738 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Lumbar hyperlordosis, Shoulder girdle muscle weakness, Myopathy, Distal amyotrophy, Pelvic girdle... |
OMIM:167320 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Abnormal sacrum morphology, Scoliosis, Short neck, Cleft palate... |
ORPHA:1797 |
| Diastrophic Dysplasia |
|
Scoliosis, Lumbar hyperlordosis, Cleft palate, Cervical kyphosis, Hip contracture, Hypoplastic ce... |
OMIM:222600 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Thoracolumbar scoliosis, Weakness of facial musculature, High palate, Lumbar hyperlordosis |
OMIM:610313 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Hyperventilation, Thrombocytopenia, Normochromic anemia, Pericardial e... |
OMIM:618775 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Recurren... |
OMIM:615513 |
| Lymphatic Filariasis |
|
Knee osteoarthritis, Proteinuria, Glomerulonephritis, Orchitis, Hypereosinophilia, Restrictive ve... |
ORPHA:2035 |
| Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Intermittent jaundice, Polycythemia, Hemolytic anemia, Reticu... |
ORPHA:3202 |
| Trisomy 8P |
|
Hydronephrosis, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Nephrocalcinosis, Micropen... |
ORPHA:264450 |
| Common Variable Immunodeficiency |
|
Chronic otitis media, Recurrent respiratory infections, Anal atresia, Vasculitis, Hemolytic anemi... |
ORPHA:1572 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Rhabdomyolysis, Cholestatic liver disease, Hematochezia, Hypogonadism, Elevated hepatic transamin... |
ORPHA:79095 |
| Striatonigral Degeneration, Childhood-Onset |
|
Dysphagia, Lumbar hyperlordosis |
OMIM:617054 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Hypotension, Pneumonia, Bradycardia, Tachycardia |
ORPHA:70587 |
| Monosomy 18P |
|
Epicanthus, Autoimmunity, Hypertension, Microphthalmia, Hypothyroidism, Webbed neck, Ptosis |
ORPHA:1598 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Scoliosis, Cryptorchidism, Hyperlordosis, Furrowed tongue, Hypogonadotropic hypogona... |
ORPHA:1387 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy |
OMIM:614654 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Abnormal spleen morphology, Multiple renal cysts, Abnormal bleeding, Epistaxis, ... |
ORPHA:464329 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Muscular dystrophy, Scapular winging, Achilles tendon contracture, Calf muscle pseudohypertrophy,... |
ORPHA:62 |
| Lipoyltransferase 1 Deficiency |
|
Bradycardia, Pulmonary arterial hypertension |
OMIM:616299 |
| Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Camptodactyly, Gastroesophageal reflux, Lumbar hyperlordosis, H... |
OMIM:613385 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... |
OMIM:266200 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Asplenia, Ventricular septal defect, Atrial septal defect, Hydroureter, T... |
OMIM:265380 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Ductal bile plugs, Jaundice, Hematochezia, Prolonged prothrombin time, Elevated circulating aspar... |
OMIM:613812 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myopathy, Restrictive ventilatory defect, Muscular dystrophy, Muscle fiber atrophy, Hepatomegaly,... |
ORPHA:369840 |
| Acquired Partial Lipodystrophy |
|
Microscopic hematuria, Proteinuria, Myopathy, Lymphocytosis, Hepatic steatosis |
ORPHA:79087 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Nasal polyposis, Bronchiolitis obliterans organizing pneumonia, Lymphope... |
OMIM:615518 |
| Dermatopathia Pigmentosa Reticularis |
|
Abnormal conjunctiva morphology, Hypohidrosis |
OMIM:125595 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Recurrent... |
OMIM:300853 |
| Lysinuric Protein Intolerance |
|
Oroticaciduria, Stage 5 chronic kidney disease, Hemophagocytosis, Hyperlysinuria, Respiratory ins... |
OMIM:222700 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly, Lymphocytosis |
OMIM:606445 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Camptodactyly, Astigmatism, Knee flexion contracture, Upslanted palpebral fissure, Micr... |
OMIM:619694 |
| Avian Influenza |
|
Productive cough, Hypoxemia, Respiratory failure, Pneumothorax, Myelitis, Dyspnea, Leukopenia, Ly... |
ORPHA:454836 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Recurrent respiratory infections, Myeloproliferative disorder, Leukocytosis... |
ORPHA:3226 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Atopic dermatitis, Cough, Arrhythmia, Glucocortocoid-insensitive primary hyper... |
ORPHA:171876 |
| Peeling Skin Syndrome 1 |
|
Asthma, Erythroderma, Palmoplantar hyperhidrosis, Eosinophilia |
OMIM:270300 |
| Autosomal Dominant Keratitis |
|
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... |
ORPHA:2334 |
| Immunodeficiency 40 |
|
Rectal fistula, Elevated circulating aspartate aminotransferase concentration, Eosinophilic granu... |
OMIM:616433 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Autoimmunity, Reduced left ventricular ejection fraction, Increased circulating inte... |
ORPHA:563 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Muscle fiber splitting, Myopathy, Fatty replacement of skeletal muscle, Scap... |
OMIM:618129 |
| Atelis Syndrome 1 |
|
High palate, Leukopenia, Anemia, Ventricular septal defect, Atrial septal defect, Thrombocytopeni... |
OMIM:620184 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Horseshoe kidney, Ventricular septal defect, Atrial sep... |
OMIM:274000 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Ankyloblepharon, Anophthalmia, Microphthalmia |
ORPHA:85275 |
