| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma |
OMIM:114550 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
| Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619658 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... |
OMIM:614480 |
| Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczematoid dermatitis |
OMIM:176090 |
| Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis |
OMIM:614379 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
| Hepatitis Delta |
|
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... |
ORPHA:402823 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... |
ORPHA:2869 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... |
ORPHA:424019 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... |
OMIM:245480 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Decreased movem... |
OMIM:609115 |
| Athrombia, Essential |
|
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:209050 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level |
OMIM:619549 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Autoimmunity, Inflammatory ... |
ORPHA:611 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired neutrophil chemot... |
OMIM:618986 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Failure to thrive, Hepatos... |
OMIM:619858 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis |
OMIM:616871 |
| Immunodeficiency 32B |
|
Recurrent infections, Pneumonia, Hypoalbuminemia, BCGitis, Impaired oxidative burst, Abnormal cir... |
OMIM:226990 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Muscle fiber splitting, Distal amyotrophy, Myopathy, Weakness of facial musculat... |
OMIM:617030 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, EMG: myopathi... |
ORPHA:603 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl... |
ORPHA:251992 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... |
OMIM:619662 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Neuromuscular dysphagia, Upper l... |
ORPHA:171442 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Bethlem Myopathy 1A |
|
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... |
OMIM:158810 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Von Willebrand Disease, Platelet-Type |
|
Prolonged bleeding time |
OMIM:177820 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co... |
OMIM:613101 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... |
OMIM:613812 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Recurrent otitis media, Neutrophilia |
OMIM:266265 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss ... |
ORPHA:280356 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly |
OMIM:271500 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo... |
OMIM:231100 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Splenomegaly, Erythema nodosum, Hep... |
OMIM:300635 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Cardiomyopathy, Extremely elevated creatine kinase, Mild... |
ORPHA:171445 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Ulcerative colitis, Decr... |
OMIM:618394 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Downslanted... |
OMIM:300280 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi... |
ORPHA:60 |
| Hermansky-Pudlak Syndrome 2 |
|
Low-set ears, Enlarged platelet dense granules, Recurrent otitis media, Hepatosplenomegaly, Decre... |
OMIM:608233 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Elevated circulating cr... |
OMIM:609273 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... |
OMIM:308240 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... |
OMIM:603471 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... |
OMIM:614065 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Intrinsic hand mus... |
ORPHA:399081 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly |
OMIM:616719 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... |
OMIM:617394 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir... |
OMIM:605820 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis |
ORPHA:139436 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... |
OMIM:619510 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Skeletal muscle atrophy, Axial muscle atrophy, Bilateral ptosis, Atelectasis, Pulm... |
ORPHA:254361 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Anal fissure, Lymphopenia, Hepatosplenomeg... |
OMIM:618935 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosi... |
OMIM:613313 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
| Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co... |
OMIM:616471 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Pathologic fracture, Hemangioma, Rectal prolapse, Cerebellar medul... |
OMIM:112200 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... |
ORPHA:206546 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Interstitial Lung Disease 2 |
|
Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Pulm... |
OMIM:178500 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Elevated gamma... |
OMIM:278000 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... |
ORPHA:79124 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Recurrent infections |
OMIM:606445 |
| Immunodeficiency 56 |
|
Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati... |
OMIM:615207 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
| Isolated Glycerol Kinase Deficiency |
|
Osteoporosis, Cryptorchidism, Myopathy, Elevated circulating creatine kinase concentration |
ORPHA:408 |
| Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis |
OMIM:618955 |
| Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Neoplasm, Skin rash, Myopathy, ... |
ORPHA:206569 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Vici Syndrome |
|
Low-set ears, Recurrent viral infections, Lymphopenia, Decreased proportion of CD4-positive helpe... |
OMIM:242840 |
| Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Congenital hepatic fibrosis |
ORPHA:446 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... |
ORPHA:905 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Elevated ci... |
OMIM:500002 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Tracheal stenosis, Cachexia, Tracheoeso... |
ORPHA:93941 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Eleva... |
OMIM:609524 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Pulmonary cyst, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, High... |
OMIM:147060 |
| Aspergillosis |
|
Pneumonia, Unusual CNS infection, Increased circulating IgE level, Invasive pulmonary aspergillos... |
ORPHA:1163 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... |
ORPHA:75566 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:609500 |
| Autosomal Agammaglobulinemia |
|
Cellulitis, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Arthritis, Si... |
ORPHA:33110 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
OMIM:619802 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy, Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Elevated circulating creatine kinase concentration |
OMIM:606768 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... |
OMIM:620449 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Arthrogryposis multiplex congenita, Cryptorchidism, Myopathy, Elevated circulating creatine kinas... |
OMIM:301830 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... |
OMIM:618549 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps,... |
OMIM:174900 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Secundum atrial septal defect, Decreased proportion of CD8-posit... |
OMIM:611926 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Anti-acetylcholine recep... |
OMIM:616313 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom... |
OMIM:619902 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Splenomegaly, Synovitis, ... |
ORPHA:77297 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Pulmonary edema, Arrhythmia, Eleva... |
ORPHA:57777 |
| Merrf |
|
Multiple lipomas, Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Dysphagia, Myopathy, Elevated circulating creatine kinase c... |
OMIM:255100 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Psoriasiform dermatitis, In... |
OMIM:243150 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly |
ORPHA:33402 |
| Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Congenital hepatic fib... |
OMIM:619111 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recur... |
ORPHA:47612 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... |
OMIM:115210 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy |
OMIM:208100 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration |
OMIM:607091 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Stomach cancer, Melanoma, Neoplasm of the rectum, Hodgkin lymphoma, Acute myeloi... |
ORPHA:524 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Juvenile Polyposis Of Infancy |
|
Low-set ears, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, High, narrow palate... |
ORPHA:79076 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Reduced ... |
OMIM:232400 |
| Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Neoplasm of the pancreas, Ovar... |
OMIM:175200 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
| Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Rectal prolapse, Stercoral ulcer, Anal fissure |
ORPHA:209964 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Low-set ears, Protein-losing enteropathy, Joint contracture of the hand, Narrow palate, Conductiv... |
OMIM:235510 |
| Trimethylaminuria |
|
Anemia, Depression, Splenomegaly, Neutropenia |
OMIM:602079 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Increased circulating ferritin concentration, Hepatosplenomegaly, Ab... |
ORPHA:210136 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Telangiectasia of the skin, Granuloma |
ORPHA:542592 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Scapulohumeral muscular dystrophy, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:160570 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy, Dysphagia |
OMIM:147421 |
| Tangier Disease |
|
Distal amyotrophy, Decreased HDL cholesterol concentration, Facial diplegia, Splenomegaly, Elevat... |
OMIM:205400 |
| X-Linked Agammaglobulinemia |
|
Cellulitis, Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Recurren... |
ORPHA:47 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Joint hypermobility, Flexion contracture, Dysphagia, Generalized amyotrophy |
OMIM:618323 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Lymphopenia, Leukopenia, Myositis, Tel... |
OMIM:615934 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... |
ORPHA:169154 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... |
ORPHA:53035 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent streptococcal infectio... |
ORPHA:167 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... |
OMIM:300695 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... |
OMIM:619484 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Neuromuscular dysphagia, Arthrog... |
ORPHA:171439 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Adducted Thumbs Syndrome |
|
High, narrow palate, Arthrogryposis multiplex congenita, Velopharyngeal insufficiency, Myopathy, ... |
OMIM:201550 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami... |
OMIM:619481 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Foot dorsiflexo... |
OMIM:619216 |
| Nemaline Myopathy 7 |
|
Minicore myopathy, Nemaline bodies, Genu recurvatum, Shoulder girdle muscle weakness, Limb muscle... |
OMIM:610687 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... |
ORPHA:157798 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... |
OMIM:607616 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233710 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... |
OMIM:619040 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... |
OMIM:167320 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Eleva... |
OMIM:160565 |
| Immunodeficiency 108 With Autoinflammation |
|
Epistaxis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei, Recurrent absce... |
OMIM:260570 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Anti-acetylcholine receptor antibody positivity, Myopathy |
OMIM:616314 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Shoulder girdle muscle atrophy, Nemaline bodies, Distal lower limb amyotrophy, Facial diplegia, D... |
OMIM:609284 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... |
ORPHA:2137 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Scedosporiosis |
|
Pneumonia, Unusual CNS infection, Abnormal jejunum morphology, Unusual skin infection, Invasive f... |
ORPHA:449280 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula, Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233690 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... |
ORPHA:139402 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs... |
ORPHA:1878 |
| Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Mpi-Cdg |
|
Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulating enzyme concen... |
ORPHA:79319 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Progressive sensorineural hearing impairment, Congestive heart failure, Ragged-red muscle fibers,... |
OMIM:540000 |
| Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... |
OMIM:612201 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Congestive heart failure, Decreased plasma free carnitine, Left ventricu... |
OMIM:619048 |
| Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Recurrent pneumonia, Rimmed va... |
OMIM:620249 |
| Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
| Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
| Graft Versus Host Disease |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... |
ORPHA:39812 |
| Rigid Spine Syndrome |
|
Pneumonia, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myopathy, ... |
ORPHA:97244 |
| Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
| Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Cachexia, Bronchiectasis |
ORPHA:60033 |
| Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis, Abnormality of the liver |
ORPHA:2040 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... |
OMIM:613697 |
| Thymoma |
|
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Ulcerative colitis, System... |
ORPHA:99867 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, H... |
ORPHA:169160 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Anti-acetylcholine receptor antibody positivity, Limb muscle weakness, Typ... |
OMIM:603034 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Gastroesophageal reflux, Polymicrogyria, Sensorineural hearing impairment, Left ventricular hyper... |
OMIM:616974 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... |
ORPHA:353327 |
| Weiss-Kruszka Syndrome |
|
Low-set ears, Highly arched eyebrow, Cupped ear, Hearing impairment, Horizontal crus of helix, Do... |
OMIM:618619 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Dubowitz Syndrome |
|
Anal stenosis, Abnormality of neutrophils, Hearing impairment, Sparse lateral eyebrow, Low-set, p... |
ORPHA:235 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent... |
ORPHA:270 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
| Noonan Syndrome 8 |
|
Low-set ears, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Pleural effusion, Mitr... |
OMIM:615355 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... |
OMIM:616433 |
| Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... |
OMIM:619267 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Foot dorsiflexor weak... |
ORPHA:399103 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
| Central Core Disease |
|
Nemaline bodies, Congenital hip dislocation, Abnormal circulating creatine kinase concentration, ... |
ORPHA:597 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ... |
ORPHA:79126 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Acute colitis, Elevated circulating creatinine concentration, ... |
ORPHA:90038 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Atelectasis, Recurrent Burkholde... |
OMIM:306400 |
| Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy, Elevated creatine kinase afte... |
ORPHA:352470 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis |
OMIM:619644 |
| Senior-Loken Syndrome 9 |
|
Cholestasis, Hepatic fibrosis, Obesity, Tubulointerstitial nephritis |
OMIM:616629 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Chediak-Higashi Syndrome |
|
Iris hypopigmentation, Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, ... |
OMIM:214500 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Lymphoma, Recurrent otitis media, Decreased circulating antibody level, Autoimmunity, ... |
ORPHA:397596 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... |
OMIM:608751 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... |
ORPHA:42 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Abnormal pulmonary interstitial... |
ORPHA:809 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, A... |
OMIM:614742 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level, Myopathy |
ORPHA:2571 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Myopathy, Increased muscle lipid content, Macroglossia, High palate, In... |
ORPHA:254864 |
| Melioidosis |
|
Pneumonia, Foot osteomyelitis, Hepatitis, Cutaneous abscess, Parotitis, Abnormality of the spleen... |
ORPHA:31202 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... |
OMIM:614676 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Muscular dystrophy, Left ventricular systolic dysfunction, Elevated circulating creatine kinase c... |
OMIM:613156 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
| Restrictive Dermopathy 2 |
|
Gastroesophageal reflux, Rectal prolapse |
OMIM:619793 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Hepatitis |
ORPHA:363523 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hearing impairment, Elevated circulating creatinine concentration, Left ventricular hypertrophy, ... |
OMIM:616733 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
| Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
| Agammaglobulinemia, X-Linked |
|
Hearing impairment, Enteroviral dermatomyositis syndrome, Recurrent otitis media, Neutropenia, Re... |
OMIM:300755 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... |
ORPHA:424016 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Sparse eyebrow, Skeletal muscle atrophy, Sparse eyelashes, Elevated circulating creatine kinase c... |
OMIM:615704 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss, Aspiration pneumonia |
ORPHA:141152 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu... |
ORPHA:424107 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat... |
OMIM:615630 |
| Laing Early-Onset Distal Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... |
ORPHA:59135 |
| Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Abnor... |
ORPHA:2032 |
| Mounier-Kühn Syndrome |
|
Pneumonia, Tracheal stenosis |
ORPHA:3347 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak... |
OMIM:619767 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Muscular dystrophy, Type II lissencephaly, Elevated circulating creatine kinase concentration, Le... |
OMIM:613153 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Elevated circulatin... |
OMIM:608840 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Small for gestational age |
OMIM:614602 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... |
OMIM:613876 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612783 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Celiac disease, Hepatosplenomegaly, Interstitial pn... |
OMIM:615952 |
| Aredyld Syndrome |
|
Type I diabetes mellitus, Abnormal dental enamel morphology, Type II diabetes mellitus, Splenomeg... |
ORPHA:1133 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Short palpebral fissure, Long eyelashes, Decreased circulating I... |
ORPHA:79330 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concent... |
OMIM:611307 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly |
OMIM:607361 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, EMG: myopathic abnorm... |
ORPHA:397744 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Skeletal muscle atrophy, Myopathy, Joint hypermobility, Elevated circulating creatine... |
ORPHA:300179 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:618940 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Gastroesophageal reflux, Camptodactyly of finger,... |
OMIM:614399 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Failure to ... |
OMIM:617093 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Xerostomia, Elevated circulating creatine kinase concentration, Myositis, K... |
ORPHA:81 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... |
OMIM:601495 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... |
ORPHA:732 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... |
ORPHA:90003 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis, Hypertension |
ORPHA:2111 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Reduced subcutaneous adipose tissue, Cachexia, Lipodystrophy, Weight lo... |
ORPHA:1979 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... |
ORPHA:64743 |
| Acetyl-Coa Carboxylase-Alpha Deficiency |
|
Myopathy |
OMIM:613933 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... |
OMIM:618823 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, Elevated circulat... |
ORPHA:254886 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial... |
OMIM:613874 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio... |
ORPHA:79230 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Low-set ears, Megarectum, Arthrogryposis multiplex congenita, Hearing impairment, Downslanted pal... |
OMIM:301056 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
| Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... |
ORPHA:97240 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Pyloric stenosis, Recurrent pneumonia, Morgagni diaphragmatic hernia, Periphera... |
OMIM:613177 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
| Congenital Fibrinogen Deficiency |
|
Volvulus, Left ventricular hypertrophy, Splenic rupture, Internal hemorrhage, Prolonged prothromb... |
ORPHA:335 |
| Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... |
OMIM:615518 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... |
ORPHA:48104 |
| Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Bron... |
ORPHA:420741 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Limb muscle weakness, High palate, Dysphagia, Mus... |
OMIM:256030 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618992 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
| Usher Syndrome, Type 1M |
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Left ventricular hypertrophy, Prelingual sensorineural hearing impairment |
OMIM:618632 |
| Isolated Biliary Atresia |
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Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
ORPHA:30391 |
| Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Lymphoma, Recurre... |
OMIM:240500 |
| Immunodeficiency 92 |
|
Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res... |
OMIM:619652 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
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Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... |
OMIM:300696 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... |
ORPHA:209902 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:613404 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Nasol... |
ORPHA:2968 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
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Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Recurrent mycobacterial infections, Decreased circulating IgG level, Inflammation of the large in... |
ORPHA:98813 |
| Fixed Subaortic Stenosis |
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Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
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Abnormality of the ankle, Genu valgum, Myopathy, Abnormality of the epiphyses of the elbow, Osteo... |
ORPHA:166002 |
| Finnish Upper Limb-Onset Distal Myopathy |
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Rimmed vacuoles, Joint contracture of the hand, EMG: myopathic abnormalities, Intrinsic hand musc... |
ORPHA:399086 |
| Macrophage Activation Syndrome |
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Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, E... |
ORPHA:158061 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple... |
OMIM:606003 |
| Nemaline Myopathy 8 |
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Nemaline bodies, Myofibrillar myopathy, Flexion contracture, Facial palsy, Dysphagia |
OMIM:615348 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
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Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulat... |
OMIM:615418 |
| Donohue Syndrome |
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Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyperinsulinemia, Pancr... |
OMIM:246200 |
| Limited Cutaneous Systemic Sclerosis |
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Joint contracture of the hand, Gastroesophageal reflux, Foot joint contracture, Telangiectasia of... |
ORPHA:220402 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Pneumonia, Type I diabetes mellitus, Inflammatory abnormality of the skin, Elevated circulating h... |
ORPHA:37042 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
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Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Decreased cervical ... |
OMIM:310300 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis |
OMIM:178550 |
| Bleeding Disorder, Platelet-Type, 18 |
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Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... |
OMIM:615888 |
| Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
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Myopathy |
OMIM:613076 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the skin, Thyroid adenoma, Uterine leiomyoma, Stomach cancer, Juvenile gastrointestin... |
ORPHA:480536 |
| Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly |
ORPHA:52416 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Weight loss, Splenomegaly |
ORPHA:79238 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukemia, Leukopenia, Pulmonary fibrosis |
OMIM:620400 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
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Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Myeloid leukemia, Leukemia, Pulmonary... |
OMIM:614743 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Cachexia |
ORPHA:157973 |
| Congenital Disorder Of Glycosylation, Type Ib |
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Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemic hypoglycemia, H... |
OMIM:602579 |
| Congenital Myopathy 1B, Autosomal Recessive |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... |
ORPHA:294 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... |
OMIM:612098 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Weight loss, Cachexi... |
ORPHA:2552 |
| Myotubular Myopathy With Abnormal Genital Development |
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Centrally nucleated skeletal muscle fibers, Bifid scrotum, Bilateral cryptorchidism, Glandular hy... |
OMIM:300219 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
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Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Cutaneous mastocytosis, Upslanted palpebral fissure, Joint contrac... |
OMIM:248910 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... |
ORPHA:562639 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... |
OMIM:606612 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... |
OMIM:615422 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Ventricular hypertrophy, Recurrent respiratory infections, Atele... |
OMIM:618278 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Gastroesophageal reflux, Abnormal cortical gyration, Elbow dislocation, Intestinal ... |
ORPHA:2538 |
| Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis |
ORPHA:2377 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Severe varicella zoster infection, Recurren... |
OMIM:606367 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Low-set ears, Conductive hearing impairment, Giant platelets, Downslanted palpebral fissures, Ups... |
OMIM:611209 |
| Adult-Onset Still Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Spl... |
ORPHA:829 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... |
OMIM:617241 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Macrov... |
ORPHA:298 |
| Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Hepatitis |
ORPHA:199296 |
| Wolman Disease |
|
Hepatomegaly, Hepatic failure, Cachexia, Splenomegaly |
ORPHA:75233 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Skeletal mus... |
OMIM:160150 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, EMG: myopathic abno... |
ORPHA:370980 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy |
OMIM:618228 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Acute hepatitis, Failure to thrive, Decreased liver function |
OMIM:238970 |
| Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Weight loss, Arthritis, Hepatomegaly |
ORPHA:42642 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Leukocytosis, ST segment... |
ORPHA:90065 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:194380 |
| Al Amyloidosis |
|
Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog... |
ORPHA:85443 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca... |
ORPHA:3208 |
| Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, Pneumothorax, Pulmona... |
OMIM:612387 |
| Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Dysphagia, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy |
OMIM:605809 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Multiple joint contractures, Abnormal muscle fiber myotilin, Elevated circulat... |
ORPHA:98911 |
| Asbestos Intoxication |
|
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... |
ORPHA:2302 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:264580 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... |
OMIM:208085 |
| Radiation Proctitis |
|
Hematochezia, Arteritis, Abnormal rectum morphology, Intestinal obstruction, Rectal fistula, Abno... |
ORPHA:70475 |
| Idiopathic Pulmonary Hemosiderosis |
|
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... |
ORPHA:99931 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hyperalaninemia... |
OMIM:614654 |
| Myopathy And Diabetes Mellitus |
|
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... |
ORPHA:2596 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatos... |
ORPHA:228426 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Failure to thrive, Infectious encephalitis, Biliary tract abno... |
OMIM:209920 |
