Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Whipple Disease |
|
Myositis, Myocardial infarction, Anorexia, Uveitis, Cough, Hypothyroidism, Infectious encephaliti... |
ORPHA:3452 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Raynaud phenomenon, Myocarditis, ... |
ORPHA:206569 |
Q Fever |
|
Respiratory distress, Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cho... |
ORPHA:781 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis,... |
ORPHA:90291 |
Zygomycosis |
|
Fasciitis, Sinusitis, Abnormal cranial nerve morphology, Acute infectious pneumonia, Unusual gast... |
ORPHA:73263 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... |
ORPHA:183675 |
Brucellosis |
|
Liver abscess, Bronchitis, Anorexia, Knee osteoarthritis, Hyperhidrosis, Abnormality of the liver... |
ORPHA:1304 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglobulin deposits, Lymphocytoma... |
ORPHA:449395 |
Listeriosis |
|
Respiratory distress, Liver abscess, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephal... |
ORPHA:533 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Legionnaires Disease |
|
Anorexia, Abnormal lung morphology, Cough, Infectious encephalitis, Abdominal pain, Recurrent pha... |
ORPHA:549 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ... |
ORPHA:494424 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Recurrent skin infections, Malabsorption, Herpes simplex encephalitis, Chronic diar... |
OMIM:233600 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Abnormal renal tubule morphology, Rhinorrhea, Cough, Myocardit... |
ORPHA:188 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... |
ORPHA:774 |
Thymoma |
|
Myositis, Glomerulonephritis, Neoplasm of head and neck, Cough, Dyspnea, Ulcerative colitis, Weig... |
ORPHA:99867 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Alopecia... |
ORPHA:809 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... |
ORPHA:81 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepa... |
ORPHA:39812 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Bilateral tonic-clonic seizure, Eczema... |
ORPHA:436159 |
Polymyositis |
|
Myocardial infarction, Anorexia, Gastroesophageal reflux, Cough, Hepatomegaly, Abdominal pain, Di... |
ORPHA:732 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Odontoma, Dysphagia, Hepatic failure, Atherosclerosis |
ORPHA:2724 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomia, Tubulointerstiti... |
ORPHA:289390 |
Pauci-Immune Glomerulonephritis |
|
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Cough, Nephrotic range ... |
ORPHA:93126 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Kawasaki Disease |
|
Abnormality of nail color, Sterile pyuria, Conjunctivitis, Cholecystitis, Abdominal pain, Recurre... |
ORPHA:2331 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... |
ORPHA:563 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa... |
ORPHA:3386 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiti... |
ORPHA:37042 |
Shigellosis |
|
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C... |
ORPHA:810 |
Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, ... |
ORPHA:84064 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Hematologic... |
ORPHA:3243 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Vomiting, Infectious encephaliti... |
ORPHA:36234 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Lipodystrophy, Lipoat... |
ORPHA:2348 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Glomerulo... |
ORPHA:117 |
Simple Cryoglobulinemia |
|
Myocardial infarction, Mesangial hypercellularity, Abnormal lung morphology, Nephritis, Membranop... |
ORPHA:91139 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Anorexia, Lymphadenitis, Abnormality of the spleen,... |
ORPHA:2552 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Rheumatic Fever |
|
Nausea and vomiting, Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnorma... |
ORPHA:3099 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Abdominal pain, Recurrent pharyngitis, Va... |
ORPHA:32960 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Overweight, Intrahepa... |
ORPHA:69663 |
Relapsing Polychondritis |
|
Uveitis, Large vessel vasculitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Glom... |
ORPHA:728 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Flexion contracture, Gastroesophageal reflux, Muscle fiber atrophy, Aspiration, Hypoven... |
ORPHA:258 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... |
OMIM:618108 |
Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Focal hemiclonic sei... |
ORPHA:1830 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Lipoat... |
ORPHA:79083 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Myocardial infarction, Gastroesophageal reflux, Femoral hernia, Hiatus hern... |
ORPHA:3342 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Abdomina... |
OMIM:142680 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Werner Syndrome |
|
Skeletal muscle atrophy, Myocardial infarction, Abnormal cerebral vascular morphology, Abnormal h... |
ORPHA:902 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Vomiting, Nephritis, Alopecia, Abdominal pain, Raynaud phenomenon, Pericardial effusion... |
ORPHA:93552 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Abdominal pain, Myocarditis... |
ORPHA:829 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia, Hyperhidro... |
ORPHA:319213 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Cardiac arr... |
ORPHA:139402 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Reduced subcutaneous adipose tissue, Dilated cardiomyopathy, Gastroesophageal reflux, Decreased b... |
OMIM:618097 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Hepatomegaly, B-cell lymphoma, Vas... |
ORPHA:3261 |
Cach Syndrome |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Flexion contracture, Optic atro... |
ORPHA:135 |
Dermatomyositis |
|
Myocardial infarction, Feeding difficulties in infancy, Inflammatory myopathy, Neoplasm, Vasculit... |
ORPHA:221 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Alopecia, Recurrent skin infections, Recu... |
OMIM:616576 |
Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Cardi... |
ORPHA:292 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Juvenile Dermatomyositis |
|
Bundle branch block, Myositis, Cough, Calcinosis, Alopecia, Abdominal pain, Vasculitis, Cardiomyo... |
ORPHA:93672 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Scrub Typhus |
|
Nausea and vomiting, Anterior uveitis, Renal insufficiency, Skin rash, Abdominal pain, Myocarditi... |
ORPHA:83317 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hypertension, Coronary artery a... |
ORPHA:79084 |
Chylous Ascites |
|
Neoplasm, Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Cough, Infectious encephalitis, Abnormality of the kidney, Ch... |
ORPHA:1163 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Nausea and vomiting, Anorexia, Abdominal... |
ORPHA:79312 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Bloody diarrhea, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Chilblains,... |
OMIM:615846 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Diarrhea, Recurr... |
OMIM:616100 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Anorexia, Ele... |
OMIM:619386 |
Pyoderma Gangrenosum |
|
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Atrophic scars, Rheumatoi... |
ORPHA:48104 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Seizure, Bradyc... |
OMIM:617222 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Precocious atherosclerosis, Premature graying of hair, Increased int... |
ORPHA:280365 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Renal i... |
OMIM:203800 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chilblains, Lipod... |
OMIM:619858 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin... |
ORPHA:70475 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Celiac disease, Splenomegaly,... |
OMIM:619375 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Malabsorpti... |
ORPHA:47 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum... |
OMIM:300635 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Cle... |
ORPHA:141152 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Esophageal varix, Arterioscl... |
ORPHA:75234 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Recurrent urinary tract infections, Alopecia, Lymphoproliferative disorder, Elevate... |
OMIM:615559 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Abn... |
ORPHA:228119 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions... |
ORPHA:544482 |
Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Nep... |
ORPHA:662 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Pancreatic endocrine tumor, Hyperhidrosis, Adrenal pheochromocytoma, Abnor... |
ORPHA:892 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Feeding difficult... |
ORPHA:3260 |
Microlissencephaly |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Pneumonia, Cerebral co... |
ORPHA:1083 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Prominent superfi... |
OMIM:608600 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Gastr... |
OMIM:608971 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Conjunctivitis,... |
ORPHA:99827 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Intermittent ja... |
ORPHA:100086 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Micropenis, Hypothyroidism, Chilblains, Rayn... |
ORPHA:51 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Bronchitis, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, B-... |
OMIM:619381 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Skin rash, Acne, Abnormal cerebral ... |
ORPHA:758 |
Microscopic Polyangiitis |
|
Sinusitis, Uveitis, Gastrointestinal infarctions, Glomerulopathy, Abdominal pain, Vasculitis, Oli... |
ORPHA:727 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Small for gestational ag... |
ORPHA:69665 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Gastrointestinal ... |
ORPHA:342 |
Gaisböck Syndrome |
|
Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomegaly, Dyspnea, Peripher... |
ORPHA:90041 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... |
OMIM:608709 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... |
OMIM:617006 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Hand muscle weakness, Congesti... |
ORPHA:98908 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Respiratory tract infection, Splenomegaly, Hepatitis, Stroke, Recurrent otitis media |
ORPHA:444463 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Secretory diarrhea, Elevated gamma-glutamyltransferase level... |
OMIM:619573 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Alopecia, Glomerulonephritis, Eczema, Chronic diarrhea, Ileus, Hepatitis, Arthri... |
OMIM:304790 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Chronic diarrhea, Elevated... |
OMIM:618805 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Seizure, Ventriculomegaly |
ORPHA:2515 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur... |
ORPHA:567544 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Alopecia, Malabsorption, Asplen... |
OMIM:240300 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Optic disc pallor, Respiratory insufficiency due t... |
OMIM:615512 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Nephro... |
ORPHA:2575 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Otitis media, Cough, Chronic otitis media, Glomerulopathy, Ureteral stenosis, Abdomina... |
ORPHA:900 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Vomiting, Hepatic fibrosis, Elevated gamma-glutamy... |
OMIM:278000 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Feeding difficulties in infancy, ... |
OMIM:161800 |
Tetrasomy 9P |
|
Myositis, Biliary atresia, High palate, Micropenis, Patent foramen ovale, Bifid uvula, Dandy-Walk... |
ORPHA:3310 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... |
ORPHA:65682 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... |
OMIM:253600 |
Propionic Acidemia |
|
Hepatomegaly, Apnea, Eczema, Increased level of hippuric acid in urine, Poor appetite, Feeding di... |
OMIM:606054 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio... |
OMIM:619991 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-m... |
OMIM:607616 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... |
ORPHA:2137 |
Myopathy, Distal, 1 |
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Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... |
OMIM:160500 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, J... |
OMIM:243150 |
Cocaine Intoxication |
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Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy... |
ORPHA:90068 |
Adult-Onset Nemaline Myopathy |
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Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,... |
ORPHA:171442 |
Immunodeficiency 51 |
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Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
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Optic disc pallor, Pancreatitis, Respiratory insufficiency, Dysphagia |
OMIM:618230 |
Cataract 3, Multiple Types |
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Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Metachromatic Leukodystrophy |
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Urinary incontinence, Reduced leukocyte arylsulfatase A activity, Optic atrophy, Gallbladder dysf... |
OMIM:250100 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abdominal symptom, Abnormality of the testis size, Renal cyst, El... |
ORPHA:400 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
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Cerebellar atrophy, Renal tubular acidosis, Seizure, Organic aciduria, Decreased activity of NADP... |
ORPHA:431361 |
Cataract 8, Multiple Types |
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Nuclear cataract, Developmental cataract |
OMIM:115665 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
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Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Recurrent respiratory infections, Myositis, Failure to thrive, Skin rash, Skeletal muscle atrophy... |
OMIM:615934 |
Autoimmune Polyendocrinopathy Type 4 |
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Atrophic gastritis, Alopecia, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucoc... |
ORPHA:227990 |
Aicardi-Goutieres Syndrome 9 |
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Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Chilblains, Portal... |
OMIM:619487 |
Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma |
ORPHA:454 |
Cataract 41 |
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Nuclear cataract |
OMIM:116400 |
Cataract, Age-Related Nuclear |
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Nuclear cataract |
OMIM:601371 |
Cataract 18 |
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Nuclear cataract |
OMIM:610019 |
Dietary Iron Overload Disease |
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Viral hepatitis, Hepatic steatosis, Hepatomegaly, Congestive heart failure, Peritonitis, Esophage... |
ORPHA:139507 |
Galloway-Mowat Syndrome 2, X-Linked |
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Cerebellar atrophy, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:301006 |
Tangier Disease |
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Hepatomegaly, Peripheral axonal neuropathy, Myocardial infarction, Splenomegaly, Facial diplegia,... |
OMIM:205400 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
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First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Autoimmune Polyendocrinopathy Type 3 |
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Atrophic gastritis, Alopecia, Autoimmune hypoparathyroidism, Celiac disease, Iridocyclitis, Xeros... |
ORPHA:227982 |
Infantile Myofibromatosis |
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Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Intestinal obstruction, ... |
ORPHA:2591 |
Congenital Pancreatic Cyst |
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Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Eosinophilic Fasciitis |
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Fasciitis, Myositis, Weight loss, Arthritis, Cellulitis, Muscular edema |
ORPHA:3165 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Generalized amyotrophy, Neop... |
ORPHA:171 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst... |
OMIM:613470 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
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Chronic kidney disease, High palate, Glomerulonephritis, Ventriculomegaly |
ORPHA:2172 |
Cap Polyposis |
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Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Cataract 22, Multiple Types |
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Nuclear cataract, Developmental cataract |
OMIM:609741 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
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Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak... |
ORPHA:565899 |
Myasthenia Gravis |
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Myositis, Hyperthyroidism, Raynaud phenomenon, Dyspnea, Primary adrenal insufficiency, Hepatitis,... |
ORPHA:589 |
Metachromatic Leukodystrophy, Adult Form |
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Urinary incontinence, Bowel incontinence, Abdominal distention, Optic atrophy, Seizure, Cholecyst... |
ORPHA:309271 |
Congenital Disorder Of Glycosylation, Type Iih |
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Cerebellar atrophy, Failure to thrive in infancy, Elevated circulating aspartate aminotransferase... |
OMIM:611182 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Villous atrophy, Medial calcification of large arteries, Oropharyngeal squamous cell carcinoma, F... |
ORPHA:391487 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
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Cataract |
OMIM:254000 |
Postinfectious Vasculitis |
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Anorexia, Gastrointestinal inflammation, Unusual gastrointestinal infection, Bacterial endocardit... |
ORPHA:48435 |
Rhabdoid Tumor |
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Nausea and vomiting, Renal neoplasm, Poor appetite, Abdominal pain, Respiratory insufficiency, We... |
ORPHA:69077 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
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Mesangial hypercellularity, Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Cresc... |
OMIM:616414 |
Immunodeficiency 23 |
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Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec... |
OMIM:615816 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Ethylene Glycol Poisoning |
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Tachypnea, Vomiting, Nausea, Facial palsy, Episodic respiratory distress, Renal tubular dysfuncti... |
ORPHA:31826 |
Hemochromatosis, Type 2A |
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Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Arthritis, Cardiomy... |
OMIM:602390 |
Aniridia-Intellectual Disability Syndrome |
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Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Scorpion Envenomation |
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Bundle branch block, Tachypnea, Hyperhidrosis, Vomiting, Prominent U wave, Hemifacial spasm, Keto... |
ORPHA:466677 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
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Splenomegaly, Recurrent pancreatitis, Abdominal pain |
OMIM:118830 |
Lipodystrophy, Familial Partial, Type 2 |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Prominent superfi... |
OMIM:151660 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:613496 |
Kikuchi-Fujimoto Disease |
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Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Alopecia,... |
ORPHA:50918 |
Complement Component 3 Deficiency, Autosomal Recessive |
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Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... |
OMIM:613779 |
3-Methylglutaconic Aciduria, Type V |
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Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... |
OMIM:610198 |
Immunodeficiency 97 With Autoinflammation |
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Recurrent sinopulmonary infections, Recurrent urinary tract infections, Recurrent skin infections... |
OMIM:619802 |
Takayasu Arteritis |
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Myocardial infarction, Anorexia, Hyperhidrosis, Gastrointestinal infarctions, Vasculitis, Ascendi... |
ORPHA:3287 |
Pgm3-Cdg |
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High palate, Gastroesophageal reflux, Chronic otitis media, Membranoproliferative glomerulonephri... |
ORPHA:443811 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Glutaric aciduria, 3-Methylglutaric aciduria, Vomiting, Hepatomegaly, Sc... |
ORPHA:26791 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hepatomegaly, Multifocal seizures, Synophrys, Obesity, Cleft palate, Hepatosplenomegaly, Chronic ... |
OMIM:301066 |
Familial Adenomatous Polyposis |
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Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Pyruvate Kinase Deficiency Of Red Cells |
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Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Chol... |
OMIM:266200 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Bronchiectasis, Arthritis, Abnormal intestine mo... |
ORPHA:397596 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Abnormality of the kidney, Abdominal pai... |
ORPHA:767 |
Idiopathic Achalasia |
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Bronchitis, Cough, Wheezing, Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recur... |
ORPHA:930 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Respiratory distress, Skeletal mu... |
ORPHA:367 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Inguinal hernia, Brittle hair, Homocystinuria, Myocardial infarction, Methioninuria, Mitral valve... |
OMIM:236200 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
Late-Onset Junctional Epidermolysis Bullosa |
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Squamous cell carcinoma, Hyperhidrosis, Gastrointestinal inflammation, Basal cell carcinoma, Abno... |
ORPHA:79406 |
Melas |
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Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Ragg... |
ORPHA:550 |
Genetic Recurrent Myoglobinuria |
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Elevated hepatic transaminase, Dark urine, Myositis, Renal insufficiency, Proximal muscle weaknes... |
ORPHA:99845 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl... |
ORPHA:26793 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Torticollis, Brain neoplasm, Abnormal superior cer... |
ORPHA:370348 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Congestive heart failure, Limb-girdle muscle weaknes... |
OMIM:608099 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Diarrhea, Chronic diarrhe... |
OMIM:614602 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Nausea and vomiting, Hepatomegaly, Renal insufficiency, Optic atrophy, Respiratory insufficiency,... |
ORPHA:27 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Abnormal circulating enzyme concentration or activity, Bi... |
ORPHA:2590 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Vomiting, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspart... |
OMIM:614921 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... |
ORPHA:99931 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia |
OMIM:247800 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H... |
OMIM:219700 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Asthma, Atopic dermatitis, Hepatosplenomegaly, Membranous nephro... |
OMIM:618999 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splenomegaly, Jaundice, ... |
OMIM:611881 |
Junctional Epidermolysis Bullosa Inversa |
|
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Abnormality of the ... |
ORPHA:79405 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Rett Syndrome |
|
Skeletal muscle atrophy, Seizure, Cholecystitis, Failure to thrive, Abnormal pattern of respiration |
ORPHA:778 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Optic atrophy, Seizu... |
ORPHA:309256 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia, Cerebral atrophy, Seizure, Brain atrophy, Ventriculomegaly |
ORPHA:85179 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Cardiomegaly, Feeding difficulties in infancy, Increased muscle lipi... |
OMIM:608836 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car... |
OMIM:300580 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Tonic seizure, Bilateral tonic-clonic seizure, Infa... |
OMIM:619428 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, High palate, Type... |
OMIM:255160 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ... |
OMIM:255310 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Generalized-onset seizure, Cerebellar vermis hypoplasia, Feeding difficulties in... |
OMIM:212065 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Vascular granular osmiophilic material ... |
ORPHA:199354 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Complement Component 4A Deficiency |
|
Vasculitis, Glomerulonephritis |
OMIM:614380 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Eczema, Abdominal pain, Lym... |
OMIM:615895 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Pleuritis, Seizure, Malar rash, Nephritis |
OMIM:152700 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Epileptic spasm, Atrophy/Degeneration affecting the brainstem, Malnutrition, ... |
OMIM:619971 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnor... |
ORPHA:2357 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Abdominal pain, ... |
OMIM:615688 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Arterial stenosis, Cerebral ar... |
ORPHA:1192 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Dpm3-Cdg |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Stroke-like episode, Calf muscle hypertrop... |
ORPHA:263494 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Inguinal hernia, Diastasis recti, Portal hypertension, Neonatal asphyxia, Fl... |
ORPHA:440713 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Abdominal distention, Optic atrophy, Seizure, Cholecystitis |
ORPHA:309263 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration,... |
OMIM:620011 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Eczema, Proteinuria, Minimal change glome... |
OMIM:618348 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Lipodystrophy, Splen... |
OMIM:617591 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Respiratory distress, Intestinal perforation, Abnormality of the urethra, ... |
ORPHA:537 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Elevated... |
OMIM:615422 |
Spondyloenchondrodysplasia |
|
Enchondroma, Abnormal lateral ventricle morphology, Skin rash, Pneumonia, Decreased response to g... |
ORPHA:1855 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Cou... |
ORPHA:228123 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Skin rash, Maculopapular exan... |
ORPHA:398124 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Diarrhea, Dilated cardiomyopathy,... |
OMIM:601419 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Alopecia, Hypoplasia of the pons, Iridocyclitis, Corpus callosum atrophy, Sei... |
ORPHA:412057 |
Progressive Osseous Heteroplasia |
|
Sarcoma, Osteoarthritis, Abnormality of the parathyroid gland |
ORPHA:2762 |
Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis, Vascular dilatation |
OMIM:137280 |
Scedosporiosis |
|
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br... |
ORPHA:449280 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Myocardial infarction, Abnormality of the urethra, Conjunctivitis, Cough, ... |
ORPHA:36426 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve... |
OMIM:619472 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Asthma, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Rec... |
OMIM:614379 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,... |
OMIM:209920 |
Farber Disease |
|
Respiratory distress, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, N... |
ORPHA:333 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Mucoid diarrhea, Inflammation of the large intestine, Crohn's d... |
OMIM:615767 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Diffuse cerebral atrophy, Decreased beta-galactosidase activity, Foam ce... |
OMIM:230650 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Chronic otitis media, Neonatal respiratory distress, Abnormal a... |
ORPHA:244 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro... |
OMIM:613913 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Abdominal pain, Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis |
OMIM:620137 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Skelet... |
OMIM:257200 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methyl... |
OMIM:251000 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Lipase Deficiency, Combined |
|
Lipodystrophy, Pancreatitis |
OMIM:246650 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Abnormal eyelash morphology, Splenomegaly, Pyloric ste... |
ORPHA:381 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Decreased mitochondrial number, Poor appetite, Respiratory insufficiency due ... |
ORPHA:352447 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, ... |
ORPHA:91138 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Abnormality of the ... |
ORPHA:79411 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... |
ORPHA:272 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly, Recurren... |
OMIM:618935 |
Cardiomyopathy, Dilated, 1B |
|
Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra... |
OMIM:600884 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent respiratory infections, Recurrent ... |
ORPHA:47612 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... |
ORPHA:2302 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Feeding difficulties, Seizure, Arrhythmia, Hype... |
OMIM:616198 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Test... |
ORPHA:83469 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased adipose tissue, Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-red m... |
ORPHA:1349 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Optic disc pallor, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lact... |
OMIM:619167 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Cachexia, Primary adrenal insufficiency, Seizure, Cerebral cor... |
ORPHA:2047 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Generalized l... |
OMIM:619183 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Astrocytoma, Proteinuria, Calf muscle pseudohypertrophy, Lympho... |
ORPHA:79086 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure |
ORPHA:60 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Failure to thrive, Esophageal stenosis, Recurrent skin infections, Anal ... |
ORPHA:89842 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Microvesicular hepatic st... |
ORPHA:275761 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Increased connective tissue, Dilated cardiomy... |
OMIM:616827 |
Temporal Arteritis |
|
Retinal arteritis |
OMIM:187360 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... |
OMIM:145001 |
Parathyroid Carcinoma |
|
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Thyroid carcinoma, Pancreatic aden... |
ORPHA:143 |
Takayasu Arteritis |
|
Arteritis |
OMIM:207600 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Nausea and vomiting, Optic atrophy, Rena... |
ORPHA:289916 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Micropenis, Seizure, Br... |
OMIM:618815 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Porphyria Cutanea Tarda |
|
Elevated hepatic iron concentration, Hepatic steatosis, Scarring, Corneal scarring, Chronic hepat... |
ORPHA:101330 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Optic atrophy, Seizure, Le... |
OMIM:252011 |
Acatalasemia |
|
Arteriosclerosis, Reduced catalase level, Severe periodontitis, Neoplasm of the larynx |
ORPHA:926 |
Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Coarse hair, High palate, Gastroesophageal reflux, Thoracic hypertrichosis, Hypothyroi... |
OMIM:618268 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hepatitis, Hypohidrosis, Enamel hypoplasia, Sparse lateral eyebrow |
ORPHA:363523 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Small for gestati... |
OMIM:208085 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,... |
ORPHA:329918 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Giant Cell Arteritis |
|
Anorexia, Hyperhidrosis, Gastrointestinal infarctions, Cough, Abdominal aortic aneurysm, Alopecia... |
ORPHA:397 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Pneumonia, Cardiac conduction abnormality, Abnormality ... |
ORPHA:97244 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebellar atrophy, Dilated cardiomyopathy, Optic atrophy, Re... |
ORPHA:254913 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Flexion contracture, In... |
OMIM:300718 |
Myositis |
|
Myositis |
OMIM:160750 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Thyroid carcinoma, Pancreatic aden... |
ORPHA:99880 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Bicuspid aortic valve, Cerebral arteriovenous malformation, Myocardial infarct... |
OMIM:150230 |
Yao Syndrome |
|
Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal... |
OMIM:617321 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... |
OMIM:619477 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Inguinal hernia, Thenar muscle atrophy, Dilated cardiomyopathy, Premature graying of hair, Distal... |
OMIM:619903 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Cough, Splenomegaly, Panacinar emphysema, Dysp... |
OMIM:613490 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
Lichen Planopilaris |
|
Neoplasm of the oral cavity, Alopecia, Abnormal intestine morphology, Hepatitis |
ORPHA:525 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Elevated gamma-glutamyltransferase level, Atrial septal defe... |
OMIM:614576 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia, Hydrocephalus, Optic atrophy, Arteriosclerosis, Melanoma, Basal cell carcino... |
ORPHA:220295 |
Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Splenomegaly, Diarr... |
OMIM:269840 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Dark urine,... |
ORPHA:79303 |
Idiopathic Camptocormia |
|
Myositis, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Osteoarthritis, Ab... |
ORPHA:1320 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Mitral valve pr... |
ORPHA:230839 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m... |
ORPHA:231160 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Optic atrophy, Respiratory... |
OMIM:614299 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Low choleste... |
OMIM:607625 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... |
ORPHA:565612 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Intrahepati... |
OMIM:607765 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive in infancy, Pn... |
ORPHA:1572 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells |
OMIM:604809 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Urethral stricture, Renal cyst, Gastrointestinal inflammation, Squamous cel... |
ORPHA:79404 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Conjunctivitis, Vomiting, Cough, Infectious... |
ORPHA:454836 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Bilateral t... |
ORPHA:91131 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... |
ORPHA:470 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Failure to thrive, Cholangitis, Recurrent pneumonia, Chronic di... |
OMIM:615207 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Angina pectoris, Type IV atheroscl... |
ORPHA:412 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Nasogastric tube feeding in infancy,... |
ORPHA:90117 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abnormal peri... |
ORPHA:67 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Ventricular septal defect, Small for gestational age, Bilateral to... |
ORPHA:79243 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Melioidosis |
|
Shock, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, A... |
ORPHA:31202 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79321 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Pulmonary embolism, Respiratory tract infe... |
ORPHA:567548 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Toe extensor amyotrophy, Decreased number of peripheral myelinated nerve fib... |
ORPHA:98856 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
Colchicine Poisoning |
|
Respiratory distress, Renal insufficiency, Alopecia, Myocarditis, Diarrhea, Congestive heart fail... |
ORPHA:31824 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... |
ORPHA:340 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Renal hypop... |
OMIM:614376 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Protract... |
ORPHA:169160 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest |
ORPHA:34587 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair pattern, ... |
ORPHA:261250 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Asplenia, Abnormal lung lobation, High palate, Endocardial fibroelastosis, A... |
ORPHA:99776 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Diarrhea, Primary hyperparathyroidism, Abnormal liver parenchyma... |
ORPHA:1332 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Loss of gluteal subcut... |
ORPHA:435651 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Myocardial infarction, Gout, Hypertension, Premature coronary artery athero... |
OMIM:610947 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro... |
OMIM:613404 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma, Anorexia, Weight loss |
ORPHA:2023 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Skin rash, Abdominal pain, Perianal abscess,... |
OMIM:301074 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr... |
OMIM:600649 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
Bronchial Neuroendocrine Tumor |
|
Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Nonproductive cough, Hepatomeg... |
ORPHA:97287 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Recurrent respiratory infections, Failure to thrive in infancy, Portal hypertension... |
OMIM:613385 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Feeding difficulties in infancy, Abnormality of the spleen, Renal cyst, Abno... |
ORPHA:1606 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammation,... |
ORPHA:79409 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Cough, Nephropathy, Achalasia, Tracheobr... |
ORPHA:1018 |
African Trypanosomiasis |
|
Urinary incontinence, Conjunctivitis, Vomiting, Iritis, Nausea, Hepatomegaly, Abnormal EKG, Alope... |
ORPHA:3385 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Urinary incontinence, Camptodactyly of... |
OMIM:604320 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Cough... |
OMIM:612444 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath... |
ORPHA:280679 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Esophageal stricture, Dilated cardiomyopathy, Chronic diarrhea, Premature gra... |
OMIM:613989 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Ventricular septal defect, Intestinal malro... |
ORPHA:436252 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Cerebrotendinous Xanthomatosis |
|
Precocious atherosclerosis, Abnormal lung morphology, Axonal degeneration, Hypothyroidism, Abnorm... |
ORPHA:909 |
De Sanctis-Cacchione Syndrome |
|
Bilateral tonic-clonic seizure, Keratitis, Bilateral cryptorchidism, Axonal degeneration, Optic a... |
OMIM:278800 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Cerebellar atrophy, Peripheral axonal degeneration, Decreased numbe... |
OMIM:302800 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:604091 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Obesity, Oligozoospermia, Hypertension, Azoosper... |
OMIM:615703 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Generalized-onset seizure, Skin rash, Pneumonia, Proteinuria, Nodula... |
ORPHA:247691 |
Selective Igm Deficiency |
|
Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Recurrent cutaneous fungal infections, Thyroid ca... |
ORPHA:331235 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Gastroesophageal ... |
ORPHA:254892 |
Hypocomplementemic Urticarial Vasculitis |
|
Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Abdominal pain, Pericard... |
ORPHA:36412 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... |
ORPHA:656 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Abnormality... |
ORPHA:480520 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Abnormal hair whorl, Premature gr... |
ORPHA:79474 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Cardiac shunt |
OMIM:305800 |
Gaucher Disease |
|
Feeding difficulties in infancy, Osteoarthritis, Cherry red spot of the macula, Hepatomegaly, Abn... |
ORPHA:355 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Elevated hepatic transaminase, Seizure, Peripheral axonal neuropathy, Dilated cardiomyopathy |
OMIM:619688 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Feeding difficulties in infancy, Congeni... |
ORPHA:191 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Bone-marrow foam cells, Low cholest... |
OMIM:257220 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Aortic ath... |
ORPHA:209902 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia |
OMIM:254120 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ... |
OMIM:615959 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy, Lipoatrophy |
ORPHA:154 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevated circulating ... |
OMIM:300845 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Transient ischemic attack, Small for gestational age, Proteinuria, Bilateral... |
OMIM:242900 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Bone-marrow foam cells, Abnormal lung morphology, Abnormality of the l... |
ORPHA:646 |
Acute Lung Injury |
|
Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,... |
ORPHA:178320 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Abnormal hair morpholo... |
ORPHA:1979 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Tachycardia, Optic dis... |
ORPHA:79264 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Familial Chylomicronemia Syndrome |
|
Nausea and vomiting, Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal... |
ORPHA:444490 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutane... |
OMIM:269200 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Elevated ci... |
OMIM:214950 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Stroke, Constrictive pericarditis, Ple... |
OMIM:602248 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal endocardium morphology, Recurrent respiratory infections, Recurrent urinary tract infect... |
ORPHA:1334 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... |
ORPHA:228426 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Renal agenesis, Anomalous origin of left coronary artery from the pulmonary... |
ORPHA:2326 |
Aapoaiv Amyloidosis |
|
Abnormal lung morphology, Left bundle branch block, Sinus bradycardia, Chronic pulmonary obstruct... |
ORPHA:439232 |
Carvajal Syndrome |
|
Woolly hair, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Intracranial hemorrhage, Papillary renal cell carcino... |
ORPHA:363618 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... |
ORPHA:79230 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Facial palsy, Dyspnea, Dilated cardiomyopathy, Chronic diarrhea, Ragged-red m... |
OMIM:615084 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... |
ORPHA:34515 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colon... |
OMIM:617638 |
Bloom Syndrome |
|
Bronchitis, Poor appetite, Adipose tissue loss, Uveitis, Neoplasm, Gastroesophageal reflux, Neopl... |
ORPHA:125 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorption, Primary hype... |
OMIM:145981 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Squamous cell carcinoma, ... |
ORPHA:79408 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Protein avoidance, Cerebral cortical atrophy, Decreased liver function, Generalized... |
OMIM:238970 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Respiratory insufficiency, Cholelithiasis, Hypertrophic ca... |
ORPHA:848 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Glomerulopathy, Ketonuria, Hemolytic-uremic syndrome, D... |
ORPHA:79282 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Diarrhea, Enuresis, Seizu... |
ORPHA:247585 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Lymphade... |
ORPHA:911 |
Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Hepatitis, Renal ... |
ORPHA:562 |
Malonyl-Coa Decarboxylase Deficiency |
|
Neonatal respiratory distress, Left ventricular noncompaction cardiomyopathy, Abdominal pain, Dia... |
OMIM:248360 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Precocious atherosclerosis |
OMIM:145750 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Abdominal pain, Intestinal perforation, Peritonitis, Rectal prolap... |
ORPHA:90038 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neph... |
OMIM:232220 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Skin rash, Infantile spasms, Diarrhea, Dilated cardiomyopathy, Cerebral atrophy, Sei... |
OMIM:618321 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hypopituitarism, Failure to thrive in infancy, Hypoplasia of the musculature,... |
ORPHA:231226 |
Sotos Syndrome |
|
Ureteral duplication, Astrocytoma, Cerebellar vermis hypoplasia, Flexion contracture, Neoplasm, G... |
ORPHA:821 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Cerebellar atrophy, Renal insufficiency, Abnormality o... |
ORPHA:79327 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Foam cells, Proteinuria, Decreased lecithin cholesterol acyl transferase level |
OMIM:245900 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm o... |
ORPHA:163634 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Generalized-onset seizure, Elevated circulating aspartate amin... |
OMIM:300842 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis, Pre... |
OMIM:615947 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Bowel incontinence, Gastrointestinal dysmotility, Axonal degeneration, Seizure, Ca... |
ORPHA:88628 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Tongue atrophy, Greater auricular nerve thickening, Facial palsy,... |
OMIM:601596 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Nausea and vomiting, Orthostatic hypotension, Decreased circulating cortisol ... |
ORPHA:199299 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hypo... |
ORPHA:79259 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... |
OMIM:619424 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Apnea, Hypospadias, Optic atrophy, Bronchiectasis, Respiratory insuffi... |
OMIM:618253 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Inguinal hernia, Cerebral degeneration, Abnormal heart valve morphology, Splenomega... |
OMIM:230500 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... |
OMIM:612877 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Squamous cell carcinoma, Gastrointestinal inflammation, Atypical scarring of skin, Basal cell car... |
ORPHA:79410 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis |
ORPHA:111 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Abnormal fifth cranial nerve morphology, Cholangitis, Abnormality of the kidney, Abnor... |
ORPHA:449563 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Nephrocalcinosis, Elevated circulating alkaline phosphatase concentration, Left v... |
OMIM:616833 |
Mahvash Disease |
|
Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia, Abdominal pain |
OMIM:619290 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Dilated cardiomyopathy, Vomiting, Pulmonic stenosis |
ORPHA:79159 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Recurrent urinary tract infection... |
ORPHA:83471 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ... |
OMIM:137940 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Bilateral cryptorchidi... |
ORPHA:66634 |
Dextrocardia |
|
Meckel diverticulum, Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, ... |
ORPHA:1666 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative co... |
OMIM:618394 |
Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98853 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... |
ORPHA:319218 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Cellulitis, Recurrent otitis media, Febril... |
OMIM:266265 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Optic atrophy, Cerebral atrophy, Respir... |
OMIM:619057 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... |
ORPHA:95430 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... |
ORPHA:2869 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death, Weigh... |
ORPHA:764 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Ragged-red muscle fibers, Hyperventilation, Hepatomegaly, Dilated cardiomyopathy, Episodic... |
ORPHA:255210 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lower limb muscle weakness, Lymphadenitis, Abnormal lung morphology, Dyspnea, Seizure,... |
ORPHA:449427 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Brain neoplasm, Intestinal pseudo-obstruction, Prolonged QRS complex, De... |
ORPHA:273 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anorexia, Large vessel vasculitis, Hashimoto thyroiditis, Psoriasiform dermatitis, Abdominal pain... |
ORPHA:49041 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Foot joint contracture, Facial palsy, Achilles tendon contracture, Aplasia/Hypoplas... |
ORPHA:456312 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Nephrolithiasis,... |
OMIM:232200 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Chilblains, Cerebellar calcifications, Feeding diffi... |
OMIM:225750 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Celiac disease, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract ... |
OMIM:615952 |
Hypercholesterolemia, Familial, 4 |
|
Tendon xanthomatosis, Atherosclerosis |
OMIM:603813 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Myoca... |
ORPHA:56 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased number of large peripheral ... |
ORPHA:90103 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... |
OMIM:615482 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Paten... |
ORPHA:33001 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Panniculitis, Cystic acne, Small vessel vasculitis, Acne inversa |
OMIM:608068 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98855 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Heart block, Abnormal lung morphology, Ventricular tachycardia,... |
ORPHA:797 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Ragged-red muscle fibers, Atrophy/Degener... |
OMIM:607459 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the... |
OMIM:243700 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Bronchiectasis, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Recurr... |
OMIM:618254 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Apnea, Cardiac arrest... |
ORPHA:20 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Tendon xanthomatosis, Precocious atherosclerosis |
ORPHA:79506 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Asthma, Recurrent pneumonia, Hepatosplenomegaly, Mitral regurgitation, High palate, Fibroma, Hypo... |
OMIM:619750 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Abnormal cerebral vascular morphology, Sparse eyebrow, Early balding,... |
ORPHA:2067 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Obesity, Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:608320 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Abnormality of the kidney, Arthritis, Pleuritis, Malar rash, Abnormal renal physiology |
OMIM:609939 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Celiac disease, Abdominal distention, Jaundice, Hep... |
ORPHA:186 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Axonal degeneration, Upper limb muscle weakness, Lower limb muscle weakness, Foot... |
OMIM:616155 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp... |
ORPHA:873 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Prominent superficial veins, Alopecia, Sparse eyelashes, Left atrial enlargeme... |
OMIM:614008 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Nail dystrophy, Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections |
OMIM:618806 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Hydrocephalus, Dilated cardiomyopathy, Flexion contracture, Myocardial f... |
OMIM:253800 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... |
OMIM:619705 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Intestinal pseudo-obstruction, Gastroparesis, Ragged-red muscle fibers, Dilated cardiomyopathy, A... |
ORPHA:70595 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Exercise-induced myoglobinuria, Reduced forced vital capacity, Achilles tendon contracture, Dilat... |
OMIM:607155 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... |
ORPHA:91387 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hypoparathyroi... |
OMIM:277900 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Feeding difficulties in infancy, Seizure, Vomiting, Pa... |
OMIM:248600 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Cachexia, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Crack... |
ORPHA:60033 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death... |
ORPHA:99901 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Angina pectoris, Atherosclerosis |
ORPHA:79292 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Spider hemangioma, Chronic pancre... |
OMIM:232240 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Pleur... |
ORPHA:314478 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Neurofibr... |
ORPHA:137605 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Enlarged lacrimal glands, Weight los... |
ORPHA:79078 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Sinusitis, Skin rash, Diarrhea, Acute otitis media, Chronic muc... |
ORPHA:572 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, High p... |
ORPHA:98905 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Bilateral tonic-clonic seizure, Generalized m... |
ORPHA:435638 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Cerebel... |
ORPHA:93317 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Feeding difficul... |
ORPHA:365 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocyt... |
ORPHA:805 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Tachycardia, Abdominal colic, Nausea, Abdominal pain, ... |
ORPHA:521219 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroi... |
OMIM:601005 |
Gm1 Gangliosidosis |
|
Decreased beta-galactosidase activity, Gastroesophageal reflux, Aspiration pneumonia, Cherry red ... |
ORPHA:354 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Central retinal vessel vascular tortuosity, Chronic kidney disease, Calcif... |
OMIM:208060 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Optic neuropathy, Feeding difficulties in infancy, ... |
OMIM:610505 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Splenomegaly, Hepa... |
ORPHA:584 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Axonal dege... |
OMIM:618138 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Myoglobinuria,... |
OMIM:231530 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:619343 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Gastroesophageal reflux, Vomiting, Elevated gamma-glutamyltransferase level, Hepatic steatosis, H... |
OMIM:619525 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Skin rash, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Hypoplasia of the thym... |
OMIM:300400 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Lymphoma, Arthritis |
ORPHA:37748 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Skeletal muscle atrophy, Nausea, Protein avoidance, Splenomegaly, Diarrhea, Orotica... |
OMIM:222700 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea, Hepatitis, Chronic hepatitis, Hypoxemia,... |
OMIM:308230 |
Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Abnormal hair morphology, Atypical scarring of skin, Inflammation of the large in... |
ORPHA:46487 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Fulminant hepatitis, Vasculitis, Ly... |
OMIM:308240 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Hypopituitarism, Failure to thrive in infancy, Hypoplasia of th... |
ORPHA:231214 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... |
OMIM:619445 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Type IV atherosclerotic lesion |
OMIM:144300 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Conjunctivitis... |
ORPHA:31204 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Bilateral tonic-clonic seizure, Ankle flexion contracture, Rhabdomyolysis, Dilated cardiomyopathy... |
OMIM:618120 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Myelodysplasia, Cryptorchidism, Hydrocephalus, C... |
OMIM:617053 |
Esophageal Atresia |
|
Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ... |
ORPHA:1199 |
Marburg Hemorrhagic Fever |
|
Anorexia, Nonproductive cough, Odynophagia, Uveitis, Bloody diarrhea, Vomiting, Nausea, Internal ... |
ORPHA:99826 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Abdominal pain, Orchitis, Splenomegaly, Peritonitis, Diarrhea, Stage ... |
OMIM:249100 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... |
OMIM:618131 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Alopecia, Sparse eyelashes, Sparse eyebrow, Diarrhea, Dilat... |
OMIM:610768 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchio... |
OMIM:619164 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Congestiv... |
OMIM:611126 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy, Lymphoma, Optic atrophy, Bronchiectasis, Seizure, Decreased body weight |
ORPHA:477814 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc... |
OMIM:617253 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... |
OMIM:610199 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, High palate, Dystrophic fingernai... |
ORPHA:740 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Abdominal pain, Splenomegaly, Vas... |
ORPHA:575 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphol... |
ORPHA:251004 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media |
OMIM:312863 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Situ... |
OMIM:244400 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Increased circulating cortisol level, Ovarian cyst, Truncal obesity, Primary hyperc... |
OMIM:610475 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Perianal abscess, Respi... |
ORPHA:2968 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni... |
OMIM:613807 |
Monosomy 22 |
|
Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Synophrys, Hepatosplenomegaly, Hyperhid... |
ORPHA:96123 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Fair hair, Congestive h... |
OMIM:302060 |
Pancreatitis, Hereditary |
|
Abdominal pain, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, P... |
OMIM:167800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Facial palsy, Hydrocephalus, Flexion contracture, Abnormal left ven... |
OMIM:613155 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity |
OMIM:615981 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy, Myoclonus, Facial myokymia, Limb hypertonia |
ORPHA:324588 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... |
OMIM:616433 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Pleural ef... |
ORPHA:85414 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Urinary urgency, Crohn's di... |
OMIM:619621 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Milroy Disease |
|
Erysipelas, Hydrocele testis, Varicose veins, Angiosarcoma, Neoplasm of the skin, Cellulitis, Abn... |
ORPHA:79452 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Pneumonia, Eczema, Splenomegaly, Asthma, Chronic diarrhea, Fa... |
OMIM:607271 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Bilateral tonic-clonic seizure, Elevated circulating aspartate aminotran... |
OMIM:620300 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopath... |
OMIM:616541 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal p... |
ORPHA:29207 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss, Sarcoma |
ORPHA:66661 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Dicarboxylic aciduri... |
ORPHA:71212 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Lymphoma, Bronchiectasis, Hepatosplenomegaly |
OMIM:619126 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Reduced forced vital capacity, Axonal degeneration, Lacticaciduria, Distal a... |
OMIM:618811 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Abnormal lun... |
ORPHA:2035 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p... |
OMIM:300755 |
Familial Hypocalciuric Hypercalcemia |
|
Nausea and vomiting, Hypomagnesiuria, Peptic ulcer, Parathormone-independent increased renal tubu... |
ORPHA:405 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Cleft palate |
OMIM:162100 |
Vici Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Hypopigmentation of hair, Cerebellar vermis ... |
OMIM:242840 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Epileptic spasm, Apnea, Bilateral tonic-clonic seizure wit... |
ORPHA:314655 |
Diaphanospondylodysostosis |
|
Respiratory distress, Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Cleft palate, Respi... |
OMIM:608022 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Mitr... |
ORPHA:2848 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Atherosclerosis |
OMIM:610842 |
Orofaciodigital Syndrome Viii |
|
High palate, Hamartoma, Recurrent aspiration pneumonia, Cleft palate |
OMIM:300484 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Abdominal symptom, Autoimmune hypoparathyroidism,... |
ORPHA:36913 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to mu... |
OMIM:310200 |
Gardner Syndrome |
|
Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Splenomegaly, Hydrocephalus, Congestive heart failure |
ORPHA:163596 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Tendon xanthomatosis, Premature coronary artery atherosclerosis |
OMIM:618463 |
Liposarcoma |
|
Nausea and vomiting, Abnormality of the kidney, Abdominal pain, Weight loss, Varicose veins, Sarcoma |
ORPHA:69078 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivi... |
OMIM:607594 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Acute rhabdomyolysis, Axonal degeneration, Cerebral atrophy, Peri... |
OMIM:604168 |
Occipital Horn Syndrome |
|
Venous insufficiency, High, narrow palate, Coarse hair, Gastroesophageal reflux, Femoral hernia, ... |
ORPHA:198 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:608594 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Weight loss, Chronic... |
ORPHA:103918 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Myoclonus, Facial myokymia, Limb hypertonia |
OMIM:606703 |
Blau Syndrome |
|
Xerostomia, Large vessel vasculitis, Abnormal cranial nerve morphology, Abnormality of the liver,... |
ORPHA:90340 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly,... |
OMIM:209950 |
Lcat Deficiency |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Premature coronary artery ather... |
ORPHA:650 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Pulmonary fibrosis, Gly... |
OMIM:618913 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Neoplasm, Gastroesophageal reflux, Otitis media, Atrial septal defect, Ves... |
ORPHA:353281 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormal heart valve morphology... |
ORPHA:77293 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Resp... |
ORPHA:26790 |
Aicardi Syndrome |
|
Epileptic spasm, Cerebellar vermis hypoplasia, Infantile spasms, Hiatus hernia, Recurrent pneumon... |
OMIM:304050 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Co... |
OMIM:240500 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media, Failure to thriv... |
OMIM:601457 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesoph... |
ORPHA:2032 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:269700 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart fa... |
OMIM:176670 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Neoplasm of the gastrointestinal tract... |
ORPHA:636 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Vasculitis in the skin, R... |
OMIM:620321 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, D... |
ORPHA:343 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Synophrys, Flexion contracture, Atrioventricular block, Coarse hair, Otitis media, ... |
ORPHA:581 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... |
ORPHA:562639 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Foot dorsiflexor weakness, Axonal degeneration, Distal amyotrophy... |
OMIM:614436 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia, C... |
OMIM:242860 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:300991 |
Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Vomiting, Sparse hair, Lower limb muscle weakness, Decreased adi... |
OMIM:606721 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence... |
ORPHA:64 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Alopecia, Malabsorption, Abdominal pain, Splen... |
ORPHA:100025 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Chronic diarrhea, Lymphoma, Thyroiditis, Nephrot... |
ORPHA:39041 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin... |
ORPHA:881 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Epistaxis, Anorexia, Malabsorptio... |
ORPHA:33226 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs... |
OMIM:616037 |
Congenital Gerbode Defect |
|
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... |
ORPHA:99095 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Heart murmur, Abnormal hea... |
ORPHA:1867 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm |
ORPHA:46488 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Proteinuria, Bilateral cryptorchidism, Asthma, Obesit... |
OMIM:619471 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Polycystic ovaries |
ORPHA:2229 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Feeding difficulties in infancy, Synophrys, Abnormal lung ... |
OMIM:607872 |
Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97283 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Intestinal perforation, Abnormal lung morphology, Bloody diarrhea, Intracranial hemorrhage, Abnor... |
ORPHA:464321 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Dry hair, Flexion contracture, Premature graying of hair, Gastroesophage... |
ORPHA:90324 |
Leptospirosis |
|
Respiratory distress, First degree atrioventricular block, Anorexia, Uveitis, Cough, Hepatomegaly... |
ORPHA:509 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Respiratory failure requiring assisted ventilation, Abnormal brainstem MRI signa... |
ORPHA:83597 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Fasciitis, Abnormality of the kidney, Raynaud phenomenon, Vasculitis, Ab... |
ORPHA:90289 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Crohn's disease, Recurrent lower res... |
OMIM:619632 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Pneumonia |
ORPHA:464370 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:612650 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections,... |
OMIM:618282 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Sinusitis... |
ORPHA:811 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Seizure, Muscular dyst... |
OMIM:602541 |
Sitosterolemia 2 |
|
Tendon xanthomatosis, Premature coronary artery atherosclerosis |
OMIM:618666 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthritis, Congenital finger flexion contractures, Constrictive pericarditis, Wrist flexion contr... |
OMIM:208250 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Cerebellar atrophy, Optic disc pallor, Pneumonia, Hepatosplenomegaly, Oligo... |
ORPHA:309288 |
Al Amyloidosis |
|
Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, He... |
ORPHA:85443 |
Lissencephaly Due To Lis1 Mutation |
|
Dilation of Virchow-Robin spaces, Cerebellar vermis hypoplasia, Infantile spasms, Focal motor sei... |
ORPHA:95232 |
Coffin-Siris Syndrome |
|
Low anterior hairline, Papillary thyroid carcinoma, Aspiration pneumonia, Hernia, Atrial septal d... |
ORPHA:1465 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Respiratory tract infection, Minimal change glomerulonephritis, Dyspnea, Chro... |
ORPHA:567546 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Astrocytoma, Angiofibromas, Subependymal giant-cell astrocytoma, ... |
OMIM:613254 |
Visceral Myopathy 2 |
|
Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, High palate, Chronic bronchitis |
OMIM:614069 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu... |
OMIM:615451 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Tularemia |
|
Respiratory distress, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis... |
ORPHA:3392 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Gastroesophageal reflux, Vomiting, Cough, Hepatomegaly, Tricuspid regurgitation, Atelec... |
OMIM:620233 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala... |
ORPHA:793 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy... |
ORPHA:747 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Aymé-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Inguinal hernia, Proteinuria, Congenital diaphragmatic hernia, P... |
ORPHA:1272 |
Netherton Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Malabso... |
ORPHA:634 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Myelodysplasia, Recurrent upper respiratory tract infections, Bronchiectasis, Recu... |
OMIM:608184 |
Chops Syndrome |
|
High, narrow palate, Synophrys, Coarse hair, Gastroesophageal reflux, Aspiration pneumonia, Vesic... |
OMIM:616368 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Calf muscle pseudohypertrophy, Abnormal brai... |
ORPHA:370959 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Absent o... |
OMIM:615500 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Pneumonia, Splenomegaly, Lymp... |
OMIM:613179 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Diaphragmatic eventration, Peripheral axonal neuropathy, Spinal mu... |
OMIM:616866 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Vasculitis, Weight loss, ... |
ORPHA:324964 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Werner Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:277700 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cerebellar vermis hypoplasia, Apnea, Tachypnea, Abnormal optic disc morphology, Gastroesophageal ... |
ORPHA:397715 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Nausea, Poor appetite, Fulminant hepatitis, Jaundice... |
OMIM:618549 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Skeletal muscle atrophy, Abnormal circulating enzyme concentration or activit... |
ORPHA:845 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Dyspnea, Prolonged QTc interval, Hematuria, Malar rash, Seros... |
ORPHA:231111 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Nephropathy, ... |
ORPHA:324 |
Roifman-Chitayat Syndrome |
|
Pneumonia, Ectopic kidney, Optic atrophy, Arthritis, Generalized myoclonic seizure, Umbilical her... |
OMIM:613328 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Chia... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Chia... |
ORPHA:353277 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Lipodystrophy, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgi... |
OMIM:212112 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Failure to thrive, Portal hypertension, Esophageal varix, Hepatosplenome... |
OMIM:232500 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Congenital diaphragmatic hernia, Epispadias, Abnormality of the anus, Abnor... |
ORPHA:2556 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... |
ORPHA:70 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Parathyroid adenoma, Pancrea... |
OMIM:145980 |
Primary Erythromelalgia |
|
Recurrent respiratory infections, Leukemia, Vasculitis |
ORPHA:90026 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice... |
ORPHA:779 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Hydrocephalus, Seizure, Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Gen... |
ORPHA:626 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Diarrhea, Patent ductus arteriosus, Abdominal distention, Cholestas... |
OMIM:608104 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Protein avoidance, Oroticaciduria... |
ORPHA:415 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndr... |
ORPHA:276152 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st... |
OMIM:307200 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... |
OMIM:164310 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... |
OMIM:618063 |
Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Hepatomegaly, Tricuspid regurgitation, Cardiomyopathy, Restrictive ventilato... |
OMIM:253200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cerebellar vermis hypoplasia, Cardiomegaly, Heart block, High, narrow palate, Red-brown urine, Tu... |
ORPHA:228308 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Abdominal pain, Adrenocortical carcinoma, Adrenocorticotropic h... |
ORPHA:1501 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr... |
OMIM:212140 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased muscle mass, Peripheral axonal ... |
OMIM:615490 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Feeding difficulties in infancy, High palate, Atrial septal defe... |
ORPHA:2745 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Abdominal situs ambiguus, Nasal polyposis, Productive cough, Situs... |
OMIM:617092 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormality of the spleen, Abnormal lung lobation, Gastroesophag... |
ORPHA:2538 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Situs inversus ... |
OMIM:613808 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Abdominal pain, Optic atrophy, Re... |
ORPHA:2135 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Es... |
OMIM:619652 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Vasculitis, Skin rash |
ORPHA:889 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Hepatomegaly, Skin rash, Pneumonia, Lymphoproliferative diso... |
ORPHA:276 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Respiratory failure, ... |
OMIM:607598 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Angiosarcoma, Varicose veins, Aty... |
ORPHA:90186 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hepatitis, Hypoglycemic seizures, Adrenocorticotropin defic... |
ORPHA:199296 |
Wild Type Attr Amyloidosis |
|
Myocardial infarction, Gastrointestinal dysmotility, Nephropathy, Orthostatic hypotension due to ... |
ORPHA:330001 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of large peripheral myelinat... |
OMIM:208920 |
Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chro... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dextrocardia, Dynein arm defect of respiratory motile cilia, Si... |
OMIM:614679 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Synophrys, Renal cyst, High... |
OMIM:122470 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly,... |
OMIM:235255 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Respiratory insufficiency, Hematuri... |
ORPHA:375 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphrag... |
ORPHA:2847 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Prematur... |
OMIM:619488 |
H Syndrome |
|
Hernia, Micropenis, Alopecia, Psoriasiform dermatitis, Abnormality of the kidney, Recurrent phary... |
ORPHA:168569 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... |
ORPHA:300751 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Facial palsy, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis... |
OMIM:612387 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Immot... |
OMIM:613193 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Abdominal pain, Splenomegaly... |
OMIM:235200 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Immunodeficiency 22 |
|
Pericarditis, Diarrhea, Recurrent upper respiratory tract infections, Protracted diarrhea, Capill... |
OMIM:615758 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Dextrocardia, S... |
OMIM:615444 |
Alport Syndrome |
|
Mesangial hypercellularity, Vomiting, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C... |
ORPHA:63 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Subcutaneous lipoma, Dysplastic gangliocytoma of the cerebe... |
OMIM:158350 |
Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Nail-Patella Syndrome |
|
Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Absence of pectoralis minor... |
OMIM:161200 |
Yellow Fever |
|
Anuria, Vomiting, Internal hemorrhage, Nausea, Elevated circulating aspartate aminotransferase co... |
ORPHA:99829 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis... |
OMIM:175100 |
Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Hepatosplenomegaly, Feeding difficulties, Macroglossia, Cardiomyopathy,... |
ORPHA:79255 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615504 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Neoplasm, Conjunctivitis... |
ORPHA:906 |
Johanson-Blizzard Syndrome |
|
Fair hair, Anteriorly placed anus, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, At... |
OMIM:243800 |
Choreoacanthocytosis |
|
Caudate atrophy, Peroneal muscle atrophy, Muscle fiber atrophy, Hepatomegaly, Elevated circulatin... |
ORPHA:2388 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Rhinorrhea, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Ch... |
OMIM:617577 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Naxos Disease |
|
Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Dilated cardiomyopathy... |
OMIM:601214 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Cerebellar atrophy, Chronic axonal neurop... |
ORPHA:95428 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Amelogenesis imperfecta, Myopathy, Neoplasm, C... |
ORPHA:169090 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Lymphoproliferative disorder, Secundum atrial septal defect, Recurrent... |
OMIM:614868 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:608644 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Mucoepithelial Dysplasia, Hereditary |
|
Fibrocystic lung disease, Alopecia, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Cor pulmona... |
OMIM:158310 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
Acute Liver Failure |
|
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Hyperventil... |
ORPHA:90062 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus a... |
OMIM:603467 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Vomiting, Prolonged QTc interval, Mildly reduced left ventri... |
ORPHA:66529 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Jaundice, Hepatitis, Uveitis, Re... |
ORPHA:319251 |
Tangier Disease |
|
Accelerated atherosclerosis, Peripheral axonal neuropathy, Carotid artery stenosis, Abdominal pai... |
ORPHA:31150 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ... |
OMIM:620032 |
Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Fetal pyelectasis, Abnormal lu... |
ORPHA:264450 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Testicular neoplasm, Hema... |
ORPHA:71505 |
Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Torticollis, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, ... |
OMIM:614816 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Cerebellar atrophy, Hypoplasia of the pons, Intraventricular hemorrhage, Cerebral atrophy, Feedin... |
OMIM:616430 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Optic neuropathy, Gastrointestinal dysmotility, Axonal degenerati... |
ORPHA:478029 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasi... |
OMIM:226990 |
Marshall-Smith Syndrome |
|
Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossoptosis, H... |
OMIM:602535 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Coronary artery calcification, Myocardial infarction, Cardiomegaly... |
OMIM:208000 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... |
OMIM:612649 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Feeding difficulties in infancy, Synophrys, Hypertrophy of the urinary bladder, High palate, Gast... |
ORPHA:280633 |
Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Hypothyroidis... |
OMIM:301082 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Cough, Splenomegaly, Cerebral atrophy, Feeding difficulties, Stridor, Seizur... |
OMIM:230900 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Dextrocardia,... |
OMIM:606763 |
Lathosterolosis |
|
Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I... |
OMIM:607330 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... |
OMIM:615481 |
Estrogen Resistance Syndrome |
|
Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Elevated tissue non-specific al... |
ORPHA:785 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Thick hair, Highly arched eyebrow, Overweight, Dilat... |
ORPHA:401923 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Abnormality of hair texture, Hypoplasia of the pons, Cardiomyopath... |
ORPHA:88618 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Seiz... |
OMIM:300952 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Seborrheic der... |
OMIM:301072 |
Lymphoid Interstitial Pneumonia |
|
Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmona... |
ORPHA:79128 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Villous atrophy, Elevated al... |
ORPHA:398063 |
Gastrocutaneous Syndrome |
|
Synophrys, Coronary artery atherosclerosis, Peptic ulcer, Hiatus hernia |
ORPHA:2069 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectas... |
ORPHA:1655 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Ac... |
ORPHA:36238 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... |
OMIM:175050 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Dysphagia, Weight loss, Seizure, Aspiration pneumonia, Cough |
ORPHA:216866 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:608647 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... |
ORPHA:652 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorr... |
OMIM:617718 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Hypoplasia of the pons, Interstitial emphysema, Bronchiectasis, Dilatation of... |
OMIM:619708 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Cerebellar gliosis, Flexion contracture, Optic ... |
ORPHA:35069 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... |
OMIM:614878 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Osteomyelitis leading to amputation due to ... |
OMIM:112250 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Urinary incontinence, Bowel incontinence, Frontal balding, Atroph... |
ORPHA:139399 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... |
ORPHA:99104 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino... |
OMIM:620152 |
Juvenile Temporal Arteritis |
|
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia |
ORPHA:26137 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Neonatal respiratory distress, Cerebellar vermis hypoplasia, Hydrocephalus, Myoglob... |
ORPHA:157 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Failure to thrive, Diarrhea, Renal cyst, Proximal tubulopathy, Vom... |
OMIM:602579 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent... |
OMIM:614935 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Cough, Emphysema, Ungual fibroma, Renal neoplasm, Abdominal pain, Atelect... |
ORPHA:538 |
Pmm2-Cdg |
|
Respiratory distress, Multiple joint contractures, Cerebellar vermis hypoplasia, Intracranial hem... |
ORPHA:79318 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Gastroesophageal reflux, Hepa... |
ORPHA:73230 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Myoglobinuria, Rhabdomyolys... |
ORPHA:228305 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Coarse hair, Reduced leukocyte beta-glucuronidase activity, Hepatomegaly, Ca... |
OMIM:253220 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Recurrent urinary tr... |
ORPHA:90349 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Skin rash, Pneumonia, Abnormality of body weight, Proteinuria, Enlarg... |
ORPHA:2298 |
Orofaciodigital Syndrome Ix |
|
Cleft palate, High palate, Brain atrophy, Camptodactyly, Hamartoma, Recurrent aspiration pneumonia |
OMIM:258865 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Cat Eye Syndrome |
|
Biliary atresia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total ano... |
OMIM:115470 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Failure to thrive ... |
ORPHA:79124 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Premature coronary artery atherosclerosis |
OMIM:620058 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Hyp... |
ORPHA:98813 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga... |
ORPHA:95455 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar... |
ORPHA:2070 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin ... |
OMIM:102700 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Camptodactyly of finger, Cleft palate, Camptodactyly of toe, Fibroma |
OMIM:300244 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Myocardial infarction, Obesity, Hypertension, Coronary artery athero... |
OMIM:618620 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia |
ORPHA:319552 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Peptic ulcer, Elevated circulating growth hor... |
OMIM:131100 |
Hurler Syndrome |
|
Flexion contracture, Hernia, Endocardial fibroelastosis, Hepatomegaly, Hepatosplenomegaly, Cardio... |
OMIM:607014 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Inguinal hernia, Epileptic spasm, Bilateral tonic-clonic seizure, Abnormality of hair texture, Ge... |
ORPHA:79351 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Inguinal hernia, Epileptic spasm, Infantile spasms, Cryptorchidism, Cleft palate, Ab... |
OMIM:247200 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Abdominal... |
ORPHA:83313 |
Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Nasogastric tube feeding in infancy, Flexion contracture, Knee flexion contracture... |
ORPHA:2020 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Increased body weight, Vomiting, Hepati... |
ORPHA:264580 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis |
OMIM:194380 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Myelodysplasia, Dyspnea, Hepatic necrosis, Premature graying of hair, Interstitial pneu... |
OMIM:127550 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Portal hypertension, Seizure, Cirrhosis, Emphysema, Hepatic failure, Cerebral berry aneurysm |
OMIM:210050 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Bilateral tonic-clonic seizure, Sudden cardiac death, Pericardial effusion, Congestive heart fail... |
ORPHA:73224 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaun... |
ORPHA:90790 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Apolipoprotein A-I Deficiency |
|
Atherosclerosis, Angina pectoris, Premature coronary artery atherosclerosis |
ORPHA:425 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl... |
ORPHA:220386 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Protein-losing enteropathy, Vesicoureteral reflux, Atrial septal... |
OMIM:235510 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate... |
ORPHA:70588 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Abdominal pain, Jaundice, Recurrent pancre... |
ORPHA:676 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... |
ORPHA:99772 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Decrea... |
OMIM:620197 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Syncope, Nail dystrophy, Woolly hair |
OMIM:615821 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... |
OMIM:619281 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Morgagni diaphragmatic hernia, Rectal prolapse, Gastroesophageal reflux, Hypoplasia of the thymus... |
OMIM:613177 |
Immunodeficiency 31C |
|
Hepatomegaly, Villous atrophy, Osteomyelitis, Recurrent respiratory infections, Eczema, Skeletal ... |
OMIM:614162 |
Systemic Lupus Erythematosus |
|
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phenomenon, Cheilitis... |
ORPHA:536 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Cleft pala... |
ORPHA:790 |
Cystic Fibrosis |
|
Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormality of the li... |
ORPHA:586 |
Cholera |
|
Tachycardia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, S... |
ORPHA:173 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Pneumothorax, Chronic pu... |
ORPHA:411703 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Aortic regurgitation, Recurrent urinary tract infections, Cerebellar... |
ORPHA:309282 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Cellulitis, Pulmonary hemorrhage |
ORPHA:238459 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Skin rash, Protei... |
ORPHA:761 |
Bazex Syndrome |
|
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Vomiting, Pancreatitis |
OMIM:238600 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Cardiomegaly, Abdom... |
ORPHA:465508 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Cerebral atrophy, Myoclonus, Neuronal loss in... |
ORPHA:204 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... |
ORPHA:980 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Cerebellar atrophy, Renal insufficiency, Hypothyroidism, Pneumotho... |
ORPHA:445038 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Abdominal pain, Intraventricular hemorrhage, ... |
ORPHA:420741 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusiti... |
OMIM:604571 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Jaundice, Esophageal varix, Biliary cirrhosis, Microno... |
OMIM:215600 |
Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Intestinal edema, Abdominal pain, Diarrhea, Axonal degeneration, Vo... |
OMIM:106100 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, Generalized-onset... |
ORPHA:33364 |
Hereditary Hyperekplexia |
|
Hiatus hernia, Seizure, Gastroesophageal reflux, Myoclonus, Hernia, Esophagitis, Umbilical hernia |
ORPHA:3197 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Nephrotic syndrome, Malar ra... |
OMIM:603909 |
Ohdo Syndrome, Sbbys Variant |
|
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Cleft palate, Feeding difficulties, Hypothyr... |
OMIM:603736 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... |
ORPHA:79126 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Optic... |
ORPHA:221139 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Intramuscular hematoma, Myel... |
ORPHA:331 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Abdominal pain, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Hurler Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Angina pectoris, Abnormal heart valve morphology,... |
ORPHA:93473 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... |
OMIM:617091 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Sinusitis, Abnormal medulla oblongata morphology, Pneumonia, Facial palsy, A... |
ORPHA:68 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Hypopigmentation of hair, Epistaxis, Albinism, Abdominal pain, Hematochezia,... |
OMIM:203300 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Abnormal left ventricular function, Right ventricular dilatati... |
ORPHA:70591 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Generalized-onset seizure, Bicuspid aortic valve, Decreased response to grow... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Generalized-onset seizure, Bicuspid aortic valve, Decreased response to grow... |
ORPHA:363958 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Gastroesophageal reflux, High palate, Vomiting, Cough, Emphysema, Hepatic steatosis, P... |
OMIM:613658 |
Mohr-Tranebjaerg Syndrome |
|
Caudate atrophy, Optic atrophy, Aspiration pneumonia, Dysphagia, Global brain atrophy |
ORPHA:52368 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Pneumonia, Splenomegaly, Chronic diarrhea, Recurrent upper r... |
OMIM:602450 |
Kabuki Syndrome 1 |
|
Feeding difficulties in infancy, High palate, Atrial septal defect, Micropenis, Recurrent aspirat... |
OMIM:147920 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, High palate, Atrial septal defect, Subcutaneous neurofibroma, Patent foramen ovale, Sp... |
ORPHA:363700 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Aganglionic megacolon, Sparse eyebrow, Cryptorchidism, Patent duct... |
ORPHA:3338 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven... |
OMIM:605676 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchie... |
OMIM:301220 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Fee... |
ORPHA:541423 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Renal cyst, Gastroesophageal reflux, Vomiting, Micropenis, Pelvic kidney, Hypospadias, Cryptorchi... |
ORPHA:464311 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... |
ORPHA:1876 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland... |
OMIM:181000 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Xerostomia, Hypohidrosis, Keratoconjunctivitis sicca, Constipation, Or... |
ORPHA:43393 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Patent ductu... |
OMIM:612562 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Seizure, Pneumonia |
OMIM:608033 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumoni... |
OMIM:300472 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Central apnea, Recurrent urinary tract infections, Dysuria, Malabsor... |
ORPHA:3463 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... |
ORPHA:60025 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Immunodeficiency 12 |
|
Skin rash, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis, Decrea... |
OMIM:615468 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles... |
OMIM:233450 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Myop... |
OMIM:307030 |
Buerger Disease |
|
Vasculitis, Hyperhidrosis |
ORPHA:36258 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Abnormal tricuspid valve morphology, Hepatomegaly, Papilledema, Chro... |
ORPHA:580 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Anal stenosis, Sinusitis, Glioma, Recurrent bronchitis, Rhabdomyosar... |
OMIM:251260 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... |
ORPHA:79076 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Abnormal cerebral vascular mor... |
ORPHA:904 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, High, narrow palate, Synophrys, Hypoplasia o... |
OMIM:612289 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Apnea, Gastroesophageal reflux, Aspiration pneumonia, Atrial septal defect... |
ORPHA:438213 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Feeding difficulties, S... |
OMIM:616811 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal urinary color, Abdominal pain, Abnormal gastric mucosa morphology, Jaundic... |
ORPHA:234 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Diarrhea, Vasculitis, Skin rash |
OMIM:601979 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, No... |
OMIM:618699 |
Plague |
|
Respiratory distress, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pne... |
ORPHA:707 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Hypopigmentation of hair, Epistaxis, Abnormal d... |
ORPHA:79430 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Chronic diarrhea... |
OMIM:242700 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Abnormal cerebellar pedu... |
ORPHA:99027 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Pneumonia, Chronic diarrhea, Recurrent upper respiratory tract infections... |
OMIM:600802 |
Dyskeratosis Congenita, X-Linked |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Hyperhidrosis, Premature graying ... |
OMIM:305000 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Diarrhea, Hypoplasia of the thymus, Erythroderma... |
OMIM:603554 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Failure to thrive in infancy, Lipodystrophy, Abdominal pain, Diarrhea, Chronic diarrhe... |
OMIM:617099 |
9Q33.3Q34.11 Microdeletion Syndrome |
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Epistaxis, Abnormality of the kidney, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidis... |
ORPHA:495818 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Decreased muscle mass, Small for gestational age, Decreased response to growth hormone stimulatio... |
ORPHA:96182 |
Bloom Syndrome |
|
Small for gestational age, Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections... |
OMIM:210900 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Glossoptosis, High palate, Gast... |
ORPHA:444077 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Knee flexion contracture, Otitis media, Patent foramen ovale, Telangiectase... |
ORPHA:576 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... |
OMIM:186580 |
Good Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i... |
ORPHA:169105 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Episodic abdominal pain, Hypertension, Inte... |
ORPHA:330021 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst... |
OMIM:312870 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio... |
ORPHA:141127 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Lymphadenitis, Recurrent pneumonia, Chronic pulmonary obstructi... |
OMIM:618986 |
Sitosterolemia 1 |
|
Carotid artery stenosis, Abdominal pain, Splenomegaly, Arthritis, Increased circulating lactate d... |
OMIM:210250 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Papilledema, Chronic diarrhea, Peripher... |
ORPHA:217085 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypospadias, Bilateral tonic-clonic seizure, Feeding difficulties, Gastroesophageal reflux, Esoph... |
ORPHA:79350 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, ... |
ORPHA:373 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Myoclonus, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hepatomegaly, Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegal... |
OMIM:135500 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Papilledema, Chronic diarrhea, Peripher... |
ORPHA:217093 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia,... |
OMIM:130650 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Inguinal hernia, Unilateral renal agenesis, Congestive heart failure, Dilat... |
ORPHA:90348 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly o... |
ORPHA:2908 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Neoplasm, High p... |
ORPHA:480880 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Abnormal hair morphology, Chronic diarrhea, Lymphoma, Bro... |
OMIM:208900 |
Wiskott-Aldrich Syndrome |
|
Lymphoproliferative disorder, Eczema, Epistaxis, Hematemesis, Diarrhea, Recurrent pneumonia, Chro... |
OMIM:301000 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Generalized-onset seizure, Feeding difficulties in infancy, Gastrointes... |
ORPHA:500150 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Generalized-onset seizure, Abnormal medul... |
ORPHA:297 |
Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial... |
OMIM:609192 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abdominal pain, Abnormal gastr... |
ORPHA:263665 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Atrial septal defect, Tricuspid regurgitation, Scarring, Hiatus hernia, Cryptorchidi... |
OMIM:601776 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Hodgkin lymphoma, Fee... |
ORPHA:2896 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Pulmonary embolism, Hyperhidrosis, Vomiting, Aspiration pneumonia, Nausea, ... |
ORPHA:94093 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Myelodysplasia, Portal hypertension, Cryptorchidism, Premature graying of hair, Squamous cell car... |
OMIM:620365 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Cerebral atrophy, Feeding diffic... |
OMIM:615356 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Alo... |
ORPHA:99921 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Bilateral cryptorchidism, Secundum atrial septal defect, Conjunctivitis, Ga... |
OMIM:616268 |
Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... |
ORPHA:71272 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Vasculitis, Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Proteinuria, Abnormal cerebellum morphology, Cerebral artery atherosclerosis, Renal artery stenos... |
OMIM:209010 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Small intestinal dysmotility, Apnea, Urinary incontinence, Sinus bradycardia, Hy... |
OMIM:619482 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Hiatus hernia,... |
ORPHA:1901 |
Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Low anterior hairline, Nephrocalcinosis, High palate, ... |
ORPHA:79500 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira... |
ORPHA:79138 |
Wiedemann-Rautenstrauch Syndrome |
|
Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Generalized amyotro... |
OMIM:264090 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Atonic seizure, ... |
ORPHA:501 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Hepatomegaly, Vasculitis |
OMIM:601859 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Seizure, Interstitial pneumonitis... |
ORPHA:454831 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Ayme-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Cerebral atrophy, Chiari type I malformation, Seizure, Nail dyst... |
OMIM:601088 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure |
OMIM:617809 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia, Transient ischemic attack, Urinary incontinence, Bowel incontinence, Carotid artery ste... |
OMIM:600142 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Macular scar, Vasculitis, Tubulointerstitial nephritis... |
ORPHA:279914 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Raynaud phenomenon, Hypothyroidism, Restrictive vent... |
OMIM:607944 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Cerebellar atrophy, Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the larg... |
OMIM:620133 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Tricuspid regurgitation, Small for gestational age, Lipoatrophy, H... |
ORPHA:284979 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function |
OMIM:619492 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Conjunct... |
OMIM:601495 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Psoriasiform dermatitis, Alopecia, Decreased response to gr... |
ORPHA:293978 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arthritis, Spontaneous pneumothor... |
ORPHA:558 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala... |
OMIM:613795 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Peripheral axonal neuropathy, Increased urinary O-linked sialo... |
OMIM:609242 |
Multiple Osteochondromas |
|
Osteochondroma, Chondrosarcoma, Intestinal obstruction, Pseudoaneurysm, Peripheral nerve compress... |
ORPHA:321 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... |
OMIM:115250 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Hydrocephalus, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Congestive heart failure, Dyspn... |
OMIM:123700 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris, Premature coronary artery atherosclerosis |
ORPHA:140905 |
Wells Syndrome |
|
Vasculitis, Cellulitis |
ORPHA:901 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Interstitial pneumonitis |
ORPHA:231154 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Periodontitis, Emphysema, Repeated pneumothoraces, Cryptorchid... |
OMIM:130050 |
Cogan Syndrome |
|
Episcleritis, Aortic regurgitation, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle... |
ORPHA:1467 |
Retinoblastoma |
|
Lymphoma, Cleft palate, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, ... |
OMIM:180200 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis |
ORPHA:209959 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Recurrent bronchitis, Hypertension, Pulmonary artery hypopl... |
OMIM:245150 |
Hughes-Stovin Syndrome |
|
Nausea and vomiting, Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespirator... |
ORPHA:228116 |
Hypercholesterolemia, Familial, 1 |
|
Tendon xanthomatosis, Coronary artery atherosclerosis |
OMIM:143890 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anhidrosis, Fasciitis, Osteomyelitis, Chronic kidney disease, Corneal scarring, Hyperhidrosis, At... |
ORPHA:642 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Absent eyebrow, Hypospadias, Renal hypoplasia/aplasia, Absen... |
OMIM:219000 |
Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, High palate, Aspiration pneumonia, Micropenis, Patent foramen ovale... |
OMIM:216340 |
Hypercholesterolemia, Familial, 2 |
|
Coronary artery atherosclerosis |
OMIM:144010 |