| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... |
OMIM:613953 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation |
OMIM:613737 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Immunodeficiency 53 |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Recurrent o... |
OMIM:617585 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis |
OMIM:614844 |
| Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
| Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma |
ORPHA:64741 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... |
OMIM:615382 |
| Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
| Immunodeficiency 104 |
|
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ... |
OMIM:608971 |
| Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Myocardial infarction, Cachexia, Acute infectious pneumon... |
ORPHA:60033 |
| Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma |
OMIM:114550 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis |
ORPHA:139436 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections, Failure to thrive |
OMIM:614372 |
| Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis |
OMIM:614379 |
| Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Failure to thrive |
OMIM:227090 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Splenomegaly, Erythema nodosum, Hep... |
OMIM:300635 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
| Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
| Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
| Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Weight loss, Bronchitis |
ORPHA:930 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Recurrent lower respiratory tract infections, Erythroderma |
OMIM:136630 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... |
ORPHA:139402 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... |
ORPHA:499 |
| Hepatitis Delta |
|
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... |
ORPHA:402823 |
| Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ... |
ORPHA:79147 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections |
OMIM:618806 |
| Chronic Actinic Dermatitis |
|
Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Pruritus |
ORPHA:330064 |
| Immunodeficiency 56 |
|
Recurrent pneumonia, Hepatic failure, Failure to thrive, Recurrent otitis media, Recurrent sinusi... |
OMIM:615207 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Respiratory tract infection, Hepatitis, Splenomegaly |
ORPHA:444463 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly, Failure to thrive in infancy, Skin rash |
OMIM:619175 |
| Erythroderma Desquamativum |
|
Seborrheic dermatitis, Failure to thrive |
ORPHA:314 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Autosomal Agammaglobulinemia |
|
Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Con... |
ORPHA:33110 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Bronchitis, Hepatitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice... |
ORPHA:60 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, H... |
ORPHA:169160 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts, Mitral valve prolapse |
OMIM:173900 |
| Melioidosis |
|
Pneumonia, Unusual skin infection, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, A... |
ORPHA:31202 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... |
ORPHA:1909 |
| Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Splenomegaly, Hepatomegaly, Recurrent respir... |
OMIM:269840 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... |
ORPHA:905 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, Fa... |
OMIM:613812 |
| Pityriasis Rubra Pilaris |
|
Pustule, Pruritus, Erythroderma, Eczematoid dermatitis |
ORPHA:2897 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... |
OMIM:618061 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Situs in... |
OMIM:613095 |
| Young Syndrome |
|
Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Bronchiectasis, Rec... |
OMIM:279000 |
| Immunodeficiency 15A |
|
Acne inversa, Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent otitis media, Recur... |
OMIM:618204 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma |
ORPHA:312 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Recurrent bronchitis, Arthritis |
OMIM:216950 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
| Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Failure to thrive |
ORPHA:1954 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Splenomegaly, Synovitis, ... |
ORPHA:77297 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss, Aspiration pneumonia |
ORPHA:141152 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Failure to thrive, Osteomyelitis, Skin ... |
ORPHA:47 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Disseminated molluscum contagiosum, Colonic eosinop... |
OMIM:617638 |
| Thomas Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
| Congenital Ichthyosiform Erythroderma |
|
Pruritus, Keratitis, Erythroderma, Failure to thrive |
ORPHA:79394 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections |
ORPHA:3347 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... |
OMIM:145001 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Erythroderma, Blepharitis, Failure to thrive |
OMIM:614328 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ... |
OMIM:601457 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Recurrent upper respiratory tract infecti... |
OMIM:618131 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
OMIM:607765 |
| Adult-Onset Still Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Ski... |
ORPHA:829 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
| Epidermolytic Hyperkeratosis 1 |
|
Erythroderma |
OMIM:113800 |
| Muscular Hypertonia, Lethal |
|
Pneumonia |
OMIM:254120 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
OMIM:214950 |
| Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Weight loss... |
OMIM:617321 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Eczematoid dermatitis |
OMIM:300988 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Eczematoid dermatitis, Failure to thrive |
OMIM:619693 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Crigler-Najjar Syndrome, Type Ii |
|
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... |
OMIM:606785 |
| Netherton Syndrome |
|
Allergic rhinitis, Eczematoid dermatitis, Failure to thrive, Chronic rhinitis, Erythroderma, Recu... |
OMIM:256500 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation |
OMIM:613736 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts |
ORPHA:3033 |
| Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... |
ORPHA:39812 |
| Immunodeficiency 85 And Autoimmunity |
|
Eczematoid dermatitis, Failure to thrive in infancy, Oligoarthritis, Erythroderma, Recurrent resp... |
OMIM:619510 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Pleuritis, Arthritis, Pericarditis |
OMIM:609939 |
| Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hepatitis |
ORPHA:363523 |
| Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Otitis media, Recurrent sinusitis |
OMIM:618781 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hepatomegaly, Chronic oral candidiasis |
OMIM:300400 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Pruritus, Erythroderma |
OMIM:608649 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
| Q Fever |
|
Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteom... |
ORPHA:781 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Failure to thrive, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnorma... |
ORPHA:229717 |
| Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Failure to thriv... |
OMIM:209920 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Renal cyst, Transposition of the great arteries, Double outlet right v... |
OMIM:231060 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
| Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Erythroderma |
OMIM:620150 |
| Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis, Failure to thrive |
OMIM:121270 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Ichthyosis With Confetti |
|
Pruritus, Erythroderma, Decreased body weight |
OMIM:609165 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Otitis media, Recurrent bronchitis, Sinusitis |
OMIM:312863 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia |
OMIM:615993 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas... |
ORPHA:2137 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Candidiasis, Familial, 8 |
|
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis |
OMIM:615527 |
| Caspase 8 Deficiency |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Splenomegaly, Recurrent sinopulmonary infect... |
OMIM:607271 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... |
ORPHA:37042 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Weight loss, Cachexi... |
ORPHA:2552 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
| Ciliary Dyskinesia, Primary, 46 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:619436 |
| Legionnaires Disease |
|
Hypotension, Hepatitis, Abnormal pleura morphology, Splenomegaly, Infectious encephalitis, Jaundi... |
ORPHA:549 |
| Omenn Syndrome |
|
Pneumonia, Failure to thrive, Splenomegaly, Erythroderma, Hepatomegaly, Pruritus, Thyroiditis |
ORPHA:39041 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... |
OMIM:618549 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Epidermodysplasia Verruciformis |
|
Pustule, Telangiectasia of the skin, Seborrheic dermatitis, Recurrent skin infections |
ORPHA:302 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:618254 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
| Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... |
OMIM:613490 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... |
OMIM:619902 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Arrhythmia, Cachexia, Congestive heart failure |
ORPHA:157973 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Glomerulonephritis |
OMIM:247800 |
| Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Hypers... |
ORPHA:1163 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Failure to thrive, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Arthritis,... |
ORPHA:397596 |
| Bronchiolitis Obliterans |
|
Pneumonia, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis |
ORPHA:1303 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic bronc... |
OMIM:615451 |
| Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Weight loss, Arthritis, Recurrent pharyngitis, Hepatomegaly |
ORPHA:42642 |
| Polyarteritis Nodosa |
|
Cardiomyopathy, Hypertension, Weight loss, Raynaud phenomenon, Abnormal lung morphology, Pleuriti... |
ORPHA:767 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hypotension, Splenomegaly, Infectious encephalitis, Myositis, Hepato... |
ORPHA:3452 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... |
OMIM:214900 |
| Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Pulmonary arterial hypertension, Weight loss, Bronchiectasis |
ORPHA:1164 |
| Generalized Pustular Psoriasis |
|
Elevated circulating hepatic transaminase concentration, Congestive heart failure, Obesity, Palmo... |
ORPHA:247353 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Eczematoid dermatitis, Failure to thrive, Erythroderma, Glomerulonephritis, Arthritis |
OMIM:304790 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Abnormality of exocrine pancreas physiology, Recurrent bronchiolitis, Bronchiectasis, Chronic bro... |
OMIM:613021 |
| Felty Syndrome |
|
Recurrent pneumonia, Recurrent respiratory infections, Episcleritis, Splenomegaly, Synovitis, Rec... |
ORPHA:47612 |
| Rat-Bite Fever |
|
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... |
ORPHA:31205 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Weight loss, Pancreatitis, Myocarditi... |
ORPHA:188 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
| Reticular Dysgenesis |
|
Failure to thrive, Skin rash, Weight loss, Recurrent respiratory infections, Chronic otitis media |
ORPHA:33355 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Failure to thrive, Skin rash, Perianal abscess, Gastritis, R... |
OMIM:618108 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure |
ORPHA:2724 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
OMIM:242150 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... |
OMIM:615504 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... |
OMIM:614480 |
| Hydroa Vacciniforme |
|
Papulovesicular eruption, Keratitis, Eczematoid dermatitis, Malar rash, Superficial dermal periva... |
ORPHA:330058 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Splenomegaly, Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia, Pericardial effusion |
OMIM:608776 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... |
OMIM:618282 |
| Peeling Skin Syndrome 1 |
|
Pruritus, Erythroderma |
OMIM:270300 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Arthritis, Juvenile rh... |
ORPHA:85414 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Hepatosplenomegaly, Bronchiectasis |
OMIM:619126 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal heart morphology, Polycystic kidney dysplasia |
OMIM:263210 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Recurrent sinusitis, Recurrent bacterial skin infections, Recurrent... |
ORPHA:217390 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Cachexia |
ORPHA:1389 |
| Scedosporiosis |
|
Pneumonia, Unusual skin infection, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Se... |
ORPHA:449280 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Hepato... |
ORPHA:228308 |
| Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hypotension, Hepatitis, Fasciitis, Shock, Osteomyelitis, Skin rash, Respiratory tract ... |
ORPHA:36234 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis |
OMIM:619466 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Psoriasiform dermatitis, Eosinophilic infiltration of the esophagus, Erythrode... |
OMIM:615508 |
| C1Q Deficiency 2 |
|
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Vascu... |
OMIM:620321 |
| Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... |
ORPHA:79127 |
| Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Systemic Lupus Erythematosus |
|
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pleuritis, Pericarditis |
OMIM:152700 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
| Ige Responsiveness, Atopic |
|
Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis... |
OMIM:607594 |
| Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Small for gestational age |
OMIM:614602 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections,... |
OMIM:616576 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
ORPHA:85447 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... |
OMIM:615895 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu... |
ORPHA:42 |
| Femoral-Facial Syndrome |
|
Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:1988 |
| Trisomy 17P |
|
Aortic valve stenosis, Hypoplastic left heart, Hydronephrosis, Hypoplasia of penis, Urethral valv... |
ORPHA:261290 |
| Distal Triplication 15Q |
|
Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morphology, Nephroblastoma, Hydr... |
ORPHA:314588 |
| Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614870 |
| Dermatitis, Atopic |
|
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Recurrent ... |
OMIM:603165 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Recurrent aphthous stomatitis, Crohn's disease, Weight loss,... |
OMIM:266600 |
| Sézary Syndrome |
|
Abnormal pleura morphology, Splenomegaly, Erythroderma, Hepatomegaly, Pruritus |
ORPHA:3162 |
| Rigid Spine Syndrome |
|
Pneumonia, Cardiac conduction abnormality |
ORPHA:97244 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczematoid dermatitis, Failure to thrive in infancy, Hepatosplenomegaly, Psoriasiform dermatitis,... |
OMIM:606367 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infe... |
ORPHA:277 |
| Lamellar Ichthyosis |
|
Recurrent respiratory infections, Pruritus, Erythroderma, Chronic otitis media |
ORPHA:313 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Weight loss |
OMIM:191390 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... |
OMIM:243700 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
| Immunodeficiency 116 |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Malar rash, Skin rash, Raynaud phenomen... |
ORPHA:90280 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Cutaneous abscess, Recurrent oti... |
OMIM:618944 |
| Gilbert Syndrome |
|
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration |
OMIM:143500 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal cardiovascular system physiology, Pleural effusion, Weight l... |
ORPHA:50251 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Skin rash, Myositis, Keratoconjunctivitis sicca, Pulmonary arterial hyperte... |
ORPHA:81 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal hemorrhage, Pleural effusion |
OMIM:602248 |
| Harlequin Ichthyosis |
|
Recurrent respiratory infections, Sudden cardiac death, Erythroderma |
ORPHA:457 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatitis, Failure to thrive, Enteroviral encephalitis, Sclerosing cholangitis, Splenomegaly, Cir... |
OMIM:308230 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Decreased liv... |
ORPHA:540 |
| Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
| Immunodeficiency 27A |
|
Pneumonia, Hepatosplenomegaly, Splenomegaly, Increased inflammatory response, Salmonella osteomye... |
OMIM:209950 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Abnormality of the splee... |
ORPHA:79456 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma, Pruritus |
ORPHA:79481 |
| Netherton Syndrome |
|
Eczematoid dermatitis, Emphysema, Skin rash, Erythroderma, Recurrent respiratory infections |
ORPHA:634 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... |
ORPHA:209902 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Situ... |
OMIM:208540 |
| Congenital Enterovirus Infection |
|
Hepatic failure, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Pleural effusion, Skin rash... |
ORPHA:292 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619658 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Hepatomegaly, Myoglobinuria, Ren... |
ORPHA:157 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Erythroderma |
OMIM:602540 |
| Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly |
ORPHA:52416 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss, Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Ne... |
ORPHA:83469 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... |
ORPHA:75566 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:613404 |
| Bullous Impetigo |
|
Pustule, Septic arthritis, Recurrent bacterial skin infections |
ORPHA:36237 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... |
OMIM:231680 |
| Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczematoid dermatitis |
OMIM:176090 |
| Macrophage Activation Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, E... |
ORPHA:158061 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Telangiectases of the cheeks, Recurrent lower respiratory tract infections, Recurrent upper respi... |
OMIM:615139 |
| Mhc Class I Deficiency 1 |
|
Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis media, Bronchie... |
OMIM:604571 |
| Omenn Syndrome |
|
Pneumonia, Failure to thrive, Splenomegaly, Erythroderma, Hepatomegaly |
OMIM:603554 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Failure to thrive, Recurrent bronchiolitis, Pustule, Hypertension |
OMIM:616069 |
| Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Pulmo... |
ORPHA:133 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Immune-Mediated Necrotizing Myopathy |
|
Congestive heart failure, Palpitations, Skin rash, Myositis, Raynaud phenomenon, Myocarditis, Abn... |
ORPHA:206569 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Erythroderma |
OMIM:610163 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Recurrent ... |
ORPHA:436159 |
| Complement Factor B Deficiency |
|
Pneumonia, Peritonitis |
OMIM:615561 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-... |
OMIM:608836 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Pyoderma, Emphysema, Hepatosplenom... |
OMIM:242700 |
| Lichen Planopilaris |
|
Pruritus, Hepatitis |
ORPHA:525 |
| Joubert Syndrome 39 |
|
Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... |
OMIM:615505 |
| Ichthyosis With Erythrokeratoderma |
|
Pruritus, Erythroderma |
OMIM:620507 |
| Avian Influenza |
|
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati... |
ORPHA:454836 |
| Ciliary Dyskinesia, Primary, 45 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
| Crigler-Najjar Syndrome, Type I |
|
Jaundice, Elevated circulating hepatic transaminase concentration |
OMIM:218800 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Small for gestational age, Aspiration pneumonia |
OMIM:619057 |
| Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Pulmonary arterial hypertension, Erythem... |
OMIM:612387 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Cardiomyopathy, Abnormal heart morphology, Lacticac... |
ORPHA:26791 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... |
ORPHA:732 |
| Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Renal tubular acidosis, Proteinuria, ... |
OMIM:610205 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly |
ORPHA:848 |
| Bullous Pemphigoid |
|
Pruritus, Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis |
ORPHA:703 |
| Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Hypotension, Hepatitis |
ORPHA:199296 |
| Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum, Hepatosplenomegaly, B... |
OMIM:618982 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Jaundice |
ORPHA:464370 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... |
ORPHA:131 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pleura morphology, Tr... |
ORPHA:183 |
| Immunodeficiency 32B |
|
Pneumonia, Failure to thrive, Splenomegaly, Sinusitis, Hepatomegaly, Recurrent respiratory infect... |
OMIM:226990 |
| Alexander Disease Type I |
|
Cachexia, Failure to thrive |
ORPHA:363717 |
| Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Splenomeg... |
ORPHA:294 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase... |
OMIM:614921 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Failure to thrive, Skin rash... |
ORPHA:572 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Hepatomegaly, Failure to thrive, Decreased liver function |
OMIM:238970 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent upper respiratory tract infections, Failure to thrive, Hepatosplenomegaly, Erythroderma... |
ORPHA:169154 |
| Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis, Chronic otiti... |
OMIM:617092 |
| American Trypanosomiasis |
|
Cardiomyopathy, Congestive heart failure, Skin rash, Splenomegaly, Infectious encephalitis, Hepat... |
ORPHA:3386 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate |
ORPHA:87503 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Weight loss, Splenomegaly |
ORPHA:79238 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Recurrent otitis media, Pneumonia, Periodontitis, Bronchiolitis |
OMIM:266265 |
| Tularemia |
|
Pneumonia, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Erythema nodosum, Inflam... |
ORPHA:3392 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Cholelithiasis, Hypovolemic shock, Failure to thrive in infancy, Osteomyelitis... |
ORPHA:171876 |
| Ciliary Dyskinesia, Primary, 16 |
|
Chronic sinusitis, Chronic rhinitis, Pulmonary insufficiency, Chronic otitis media, Bronchiectasis |
OMIM:614017 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:603860 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... |
OMIM:617068 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Pruritus, Weight loss, Splenomegaly |
ORPHA:86893 |
| Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he... |
OMIM:307200 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... |
OMIM:614868 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Atypical or prolonged hepatitis, Sinusitis, ... |
ORPHA:83471 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... |
OMIM:616433 |
| Insulin Autoimmune Syndrome |
|
Weight loss, Arthralgia/arthritis |
ORPHA:411593 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Hepatomegaly, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:214110 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect |
OMIM:613730 |
| Pneumocystosis |
|
Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Pleural effu... |
ORPHA:723 |
| Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Subpleural interstitial thickenin... |
ORPHA:79128 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... |
ORPHA:562639 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... |
ORPHA:324964 |
| Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, ... |
OMIM:615482 |
| Phoar2-Enteropathy Syndrome |
|
Seborrheic dermatitis, Acne |
OMIM:614441 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Vasculitis in the skin |
ORPHA:90159 |
| Wolman Disease |
|
Hepatomegaly, Hepatic failure, Cachexia, Splenomegaly |
ORPHA:75233 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
ORPHA:79301 |
| Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Hepatitis, Skin rash, Recurrent respiratory infections, Pruritus |
ORPHA:1334 |
| Cortisone Reductase Deficiency 1 |
|
Obesity, Acne |
OMIM:604931 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... |
OMIM:614679 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Hypertension |
ORPHA:97229 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Macrov... |
ORPHA:298 |
| Elastoderma |
|
Eczematoid dermatitis, Erysipelas |
ORPHA:228240 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... |
OMIM:113650 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Abnormal heart morphology |
OMIM:613390 |
| Classic Hodgkin Lymphoma |
|
Splenomegaly, Skin rash, Weight loss, Hepatomegaly, Pruritus |
ORPHA:391 |
| Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni... |
OMIM:618699 |
| Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Recurrent sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... |
OMIM:612649 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Abnormal heart morphology, Vesicoureteral reflux, Renal insufficiency,... |
ORPHA:2237 |
| Zygomycosis |
|
Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage, Unusual skin infe... |
ORPHA:73263 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Arrhythmia, Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... |
ORPHA:922 |
| Interstitial Lung Disease 1 |
|
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... |
OMIM:619611 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... |
ORPHA:70587 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis |
OMIM:612567 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Immunodeficiency 77 |
|
Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
| Ciliary Dyskinesia, Primary, 24 |
|
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:615481 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Hepatosplenomegaly, Erythroderma, Pruritus, Portal fibrosis... |
ORPHA:3260 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma |
OMIM:615023 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... |
OMIM:208085 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated circulating hepatic transaminase concentration, Congestive heart failure, Pleural effusi... |
ORPHA:67 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma |
OMIM:604777 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash,... |
OMIM:612714 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts |
ORPHA:2924 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
| Microscopic Polyangiitis |
|
Vasculitis, Uveitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Episclerit... |
ORPHA:727 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
| Rheumatic Fever |
|
Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Arrhythmia, Arthritis, Sinusitis, M... |
ORPHA:3099 |
| Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma, Failure to thrive |
OMIM:609180 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... |
ORPHA:90003 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Splenomegaly, Keratoconjunctiv... |
ORPHA:91138 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Recurrent respiratory infections, Bronc... |
OMIM:618523 |
| Scrub Typhus |
|
Hypotension, Splenomegaly, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis |
ORPHA:83317 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... |
OMIM:602347 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Hepatosplenomegal... |
ORPHA:911 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst |
OMIM:614091 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
| Primary Myelofibrosis |
|
Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Portal hypertensio... |
ORPHA:824 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Vesicoureteral reflux, Renal hypoplasia/aplasia, Ventricular septal defect, ... |
ORPHA:1166 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Arthritis |
OMIM:208250 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Atopic dermatitis, Vasculitis, Hematochezia, Hepatitis, Hypertroph... |
OMIM:615846 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatosplenomegaly, Hypersplenism... |
ORPHA:228426 |
| Simple Cryoglobulinemia |
|
Nephritis, Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Weight loss, Raynau... |
ORPHA:91139 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Hepatit... |
OMIM:620565 |
| Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ... |
OMIM:147480 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Tricuspid ... |
ORPHA:97287 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Hepatosplenomegaly, Skin ... |
OMIM:609628 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... |
OMIM:614817 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Increased body weight, Pruritis on h... |
ORPHA:64745 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Seborrheic dermatitis, Stomatitis |
OMIM:246400 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis |
OMIM:615513 |
| Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst, Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Failure to thrive in infancy, Hypersplenism, Portal hypertension, Splenomegaly, Hashim... |
OMIM:613385 |
| Common Variable Immunodeficiency |
|
Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Recurrent respira... |
ORPHA:1572 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Takayasu Arteritis |
|
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Increased inflam... |
ORPHA:3287 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Cirrhosis, Pruritus |
ORPHA:79278 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Bronchiectasis |
ORPHA:2375 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... |
OMIM:615500 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Skin rash, Splenomegaly, Myositis, Hepatomegaly, Gastritis, Keratoco... |
ORPHA:809 |
| Ciliary Dyskinesia, Primary, 34 |
|
Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:617091 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum |
OMIM:615214 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... |
OMIM:616481 |
| Immunodeficiency 13 |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurr... |
OMIM:615518 |
| Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Failure ... |
OMIM:614700 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Pericarditis |
ORPHA:163596 |
| Eosinophilic Fasciitis |
|
Myositis, Weight loss, Arthritis, Fasciitis |
ORPHA:3165 |
| Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Cerebral vasculitis, Car... |
ORPHA:48435 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypot... |
ORPHA:275761 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Bronchiectasis, Decreased body weight |
ORPHA:477814 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis |
OMIM:608184 |
| Bathing Suit Ichthyosis |
|
Erythroderma |
ORPHA:100976 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:194380 |
| Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Episclerit... |
ORPHA:728 |
| Ciliary Dyskinesia, Primary, 12 |
|
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... |
OMIM:612650 |
| Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Pulmonary insu... |
ORPHA:2032 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive, Skin rash, Recurrent cutaneous f... |
ORPHA:276 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis, Fluctuating... |
OMIM:619220 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
| Caroli Disease |
|
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Hepatic fibro... |
ORPHA:53035 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... |
ORPHA:3348 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic bronc... |
OMIM:608647 |
| Biotinidase Deficiency |
|
Skin rash, Splenomegaly, Seborrheic dermatitis, Decreased circulating biotinidase concentration, ... |
OMIM:253260 |
| Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Cholelithiasis, Pruritus, Eczematoid dermatitis |
OMIM:177000 |
| Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Bronchiectasis |
OMIM:616632 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia |
ORPHA:93941 |
| Ciliary Dyskinesia, Primary, 13 |
|
Recurrent otitis media, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis |
OMIM:613193 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormal peritoneum morphology |
ORPHA:2023 |
| Reactive Arthritis |
|
Aortic regurgitation, Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stom... |
ORPHA:29207 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis |
OMIM:611884 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Pleural effusion, Bronchiectasis, Weight loss |
ORPHA:411703 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... |
ORPHA:1304 |
| Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis |
OMIM:254400 |
| Papa Syndrome |
|
Crohn's disease, Increased inflammatory response, Pustule, Myositis, Arthritis, Acne |
ORPHA:69126 |
| Immunodeficiency 22 |
|
Recurrent upper respiratory tract infections, Failure to thrive, Capillary leak, Recurrent lower ... |
OMIM:615758 |
| Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... |
OMIM:300755 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Weight loss, Abnormal peritoneum morphology |
ORPHA:26790 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Splenomeg... |
OMIM:240500 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Recurrent otitis media, Splenomegaly, Lymphocytic interstitial pneumonia, Hepa... |
OMIM:618495 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Renal cyst, Ventricular septal defect |
OMIM:614815 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Hepatitis, Melena, Maculopapular exanthema, Acute pancreatitis |
ORPHA:319218 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Failure to thrive in infancy, Crazy paving pattern, Tachycardia, Acute infectious pneumonia |
ORPHA:264675 |
| Primary Biliary Cholangitis |
|
Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, H... |
ORPHA:186 |
| Arima Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... |
OMIM:243910 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi... |
OMIM:619662 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Acne |
OMIM:167100 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Psoriasi... |
OMIM:616100 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoconjunctiv... |
OMIM:269200 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Skin rash, Weight loss, Abnormal lung morpho... |
ORPHA:33276 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Tetralogy of Fallo... |
ORPHA:2970 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic muc... |
OMIM:619752 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Recurrent respiratory infections, Cachexia |
ORPHA:702 |
| Griscelli Syndrome |
|
Hepatomegaly, Jaundice, Hepatitis, Splenomegaly |
ORPHA:381 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Eosinophilic infiltration of the esophagus, Recurrent skin infections, Recurre... |
OMIM:620532 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly |
ORPHA:2930 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Atrioventricular block, Inflammatory abnormality of the skin, Elevated circulating hep... |
ORPHA:26793 |
| Ciliary Dyskinesia, Primary, 51 |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:620438 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
| Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney, Ventricular septal... |
OMIM:606232 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Neonatal death |
OMIM:618186 |
| Erythrokeratodermia Variabilis |
|
Weight loss, Skin rash |
ORPHA:317 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Hepatosplenomegaly, Splenomegaly, Ventricular septal defect, Renal cyst, Atrial sept... |
OMIM:614866 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Pneumonia, Pustular rash, Hepatitis, Bronchitis, Recurrent otitis media, Osteomyelitis, Skin rash... |
OMIM:619381 |
| Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Weight loss |
ORPHA:160148 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Prolonged QTc interval, Pericarditis, Serositis |
ORPHA:231111 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent res... |
OMIM:613808 |
| Spondyloenchondrodysplasia |
|
Pneumonia, Vasculitis, Hepatitis, Skin rash, Raynaud phenomenon, Arthritis, Juvenile rheumatoid a... |
ORPHA:1855 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Vasculitis ... |
OMIM:620296 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Me... |
OMIM:618999 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... |
OMIM:614935 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ... |
OMIM:613807 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... |
ORPHA:391487 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Splenomegaly, Ventricular septa... |
ORPHA:84064 |
| Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly |
ORPHA:1133 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
| Fusariosis |
|
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Abnormality of the spleen, Abnormality of the liv... |
ORPHA:228119 |
| Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Myositis... |
ORPHA:93672 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Pulmonary cyst, Peritoneal a... |
ORPHA:400 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Gastrointestinal hemorrhage, Weight loss |
ORPHA:2198 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent sinusitis, Splenomegaly |
OMIM:620282 |
| Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis |
OMIM:618063 |
| Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:90158 |
| Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Lymphocytic interstitial pneumonia |
OMIM:247610 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... |
ORPHA:330001 |
| Leptospirosis |
|
Hypotension, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin ... |
ORPHA:509 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Failure to thrive, Chronic bronchitis, Sinusitis, Bronchiectasis |
OMIM:242860 |
| Kawasaki Disease |
|
Vasculitis, Hepatitis, Abnormal pulmonary interstitial morphology, Congestive heart failure, Skin... |
ORPHA:2331 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Abnormal pleura morphology, Hepatitis, Recurrent respiratory infections |
ORPHA:584 |
| Nocardiosis |
|
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Emphysema, Osteomyelitis, ... |
ORPHA:31204 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Biliary cirrh... |
ORPHA:69663 |
| Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Atrial septal defect, Ventricular septal ... |
ORPHA:3375 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia |
ORPHA:90117 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestasis, Portal hypertension, Hepatitis, Cholestatic liver disease |
ORPHA:440713 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Weight loss, Eczematoid dermatitis, Keratoconjunctivitis |
ORPHA:79242 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema, Pancreatitis |
ORPHA:70578 |
| Immunodeficiency 12 |
|
Recurrent aphthous stomatitis, Skin rash, Decreased body weight, Recurrent lower respiratory trac... |
OMIM:615468 |
| Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Recurrent upper respiratory tract infections, Chronic ... |
OMIM:301082 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Weight loss, Inflammatory abnormality of the eye, Panniculitis |
ORPHA:33577 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Erysipelas, Hepatic amyloidosis, Skin rash, Myositis, Oligoarthritis... |
OMIM:142680 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia |
OMIM:619971 |
| Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| X-Linked Centronuclear Myopathy |
|
Pneumonia, Recurrent respiratory infections |
ORPHA:596 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis |
OMIM:193670 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Splenomegaly, Renal cyst, Hepatomegaly, Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:610199 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Meckel Syndrome 14 |
|
Polycystic kidney dysplasia, Single ventricle |
OMIM:619879 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Salmonella osteomyelitis, Lymphadenitis, Vasculitis in the skin |
ORPHA:319552 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Asplenia, Chro... |
OMIM:244400 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Atelectasis, Pleural effusion, Weight loss, Hypersensitivity pneumonitis |
ORPHA:2902 |
| Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:98897 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess |
OMIM:610910 |
| Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Raynaud phenomenon |
ORPHA:589 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Skin rash |
ORPHA:220295 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Congenital pulmonary airway malformation, Psoriasiform dermatitis, Interface hepati... |
OMIM:243150 |
| Immunodeficiency 52 |
|
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Failure to thrive |
OMIM:617514 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Dilated cardiomyopathy, Failure to thrive in infancy, Hypersplenism, Hepatosple... |
ORPHA:231226 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Decreased liver function... |
ORPHA:98850 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia |
OMIM:613091 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Recurrent aphthous stomatitis, Skin rash, Otitis media, Hashimoto thyroiditis,... |
ORPHA:275 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Seborrheic derma... |
ORPHA:2796 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... |
OMIM:602088 |
| Immunodeficiency 62 |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:618459 |
| Rift Valley Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... |
ORPHA:319251 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Hepatic cysts, Truncu... |
OMIM:615415 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... |
OMIM:619484 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
OMIM:619487 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
| 19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Cachexia, Failure to thrive |
ORPHA:217346 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer... |
OMIM:614878 |
| Shigellosis |
|
Pneumonia, Hypovolemic shock, Hepatic failure, Ulcerative colitis, Cholestasis, Failure to thrive... |
ORPHA:810 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Recurrent aphthous stomatitis, Splenomegaly, Bronchiectasis, Chronic oral ca... |
OMIM:150550 |
| Listeriosis |
|
Pneumonia, Unusual skin infection, Arteritis, Liver abscess, Congestive heart failure, Osteomyeli... |
ORPHA:533 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis |
OMIM:614069 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-linked sial... |
OMIM:256550 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Mitral regurgitation, Knee osteoarthritis, Pleuritis, Pericarditis |
ORPHA:2848 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... |
ORPHA:1475 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Behçet Disease |
|
Mitral regurgitation, Weight loss, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestin... |
ORPHA:117 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency |
OMIM:611773 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Abnormal circulating enzyme concentration or activity |
ORPHA:2590 |
| Granulomatosis With Polyangiitis |
|
Prostatitis, Arrhythmia, Weight loss, Inflammatory abnormality of the eye, Chronic otitis media, ... |
ORPHA:900 |
| Leishmaniasis |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight loss, Hepatomegaly,... |
ORPHA:507 |
| Follicular Lymphoma |
|
Weight loss, Pleural effusion, Splenomegaly, Abnormal peritoneum morphology |
ORPHA:545 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Vasculitis, Hepatic failure, Splenomegaly, Infectious encephalitis, Recurrent pharyngitis, Hepato... |
OMIM:308240 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
| Timothy Syndrome |
|
Pneumonia, Atrioventricular block, Bronchitis, Pulmonary arterial hypertension, Ventricular tachy... |
OMIM:601005 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir... |
OMIM:619463 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid... |
OMIM:240300 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
| Nephronophthisis 9 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts |
OMIM:613824 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Shock, Abnormal pulmonary interstitial morphology, Acute ... |
ORPHA:178320 |
| Late-Onset Isolated Acth Deficiency |
|
Hypotension, Hepatitis, Failure to thrive, Hashimoto thyroiditis, Weight loss, Orthostatic hypote... |
ORPHA:199299 |
| Trichothiodystrophy 1, Photosensitive |
|
Telangiectasia, Keratoconjunctivitis sicca, Erythroderma, Small for gestational age |
OMIM:601675 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis |
OMIM:614473 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Seborrheic dermatitis, Propionyl-CoA carboxylase deficiency, Failure to thrive |
OMIM:210210 |
| Blau Syndrome |
|
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Synovitis, Arthritis, Erythema nodosum,... |
OMIM:186580 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ... |
ORPHA:488618 |
| Bardet-Biedl Syndrome 17 |
|
Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextrocardia, Micro... |
OMIM:615994 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Recurrent sinopulmonary infections, Rhin... |
ORPHA:486 |
| Immunodeficiency 92 |
|
Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Hepatomegaly, Cholangitis |
OMIM:619652 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Hypotension, Shock, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Pulmon... |
ORPHA:36238 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory infections, ... |
OMIM:616037 |
| Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta... |
ORPHA:319213 |
| Diarrhea 12, With Microvillus Atrophy |
|
Respiratory tract infection, Bronchiectasis |
OMIM:619445 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma |
OMIM:135150 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... |
OMIM:615444 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss |
ORPHA:86884 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Atopic dermatitis, Weight loss, Hematochezia |
ORPHA:2070 |
| Meconium Aspiration Syndrome |
|
Atelectasis, Aspiration pneumonia, Pulmonary arterial hypertension, Pneumothorax, Abnormal heart ... |
ORPHA:70588 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Cardiac rhabdomyoma,... |
ORPHA:805 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal lung morphology, Erythroderma |
ORPHA:35173 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Atrial septal defect |
OMIM:616546 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... |
ORPHA:227990 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Vasculitis, Uveitis, Erysipelas, Fasciitis, Skin rash, Splenomegaly, Orchitis, Myositis, Peritoni... |
ORPHA:32960 |
| Infantile Krabbe Disease |
|
Cachexia, Abnormal circulating enzyme concentration or activity, Failure to thrive, Abnormal hear... |
ORPHA:206436 |
| Cirrhosis, Familial |
|
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Pulmonary arterial hypertension, Jaundice, ... |
OMIM:215600 |
| Rett Syndrome |
|
Cachexia, Prolonged QTc interval, Abnormal T-wave |
OMIM:312750 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Renal cyst, Hepato... |
OMIM:614922 |
| Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula |
OMIM:236700 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, C... |
OMIM:212140 |
| Orofaciodigital Syndrome I |
|
Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic... |
OMIM:311200 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Intracranial hemorrhage, Weight loss, Hepatomegaly, Recurrent respiratory infection... |
ORPHA:3226 |
| Primary Sjögren Syndrome |
|
Vasculitis, Usual interstitial pneumonia, Arteritis, Biliary cirrhosis, Bronchitis, Abnormal pulm... |
ORPHA:289390 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
ORPHA:100085 |
| Slc35A1-Cdg |
|
Pneumonia, Pulmonary hemorrhage |
ORPHA:238459 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d... |
OMIM:267010 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... |
OMIM:252920 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... |
ORPHA:2357 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Keratitis, Elevated bronchoalveolar lavage fluid neutrophil proporti... |
OMIM:608710 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Vasculitis, Skin rash |
OMIM:601979 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... |
OMIM:615952 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Erythroderma, Hepatic cysts |
OMIM:617425 |
| Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Truncus arteriosus, Ventricular septal defect, Renal cyst |
OMIM:615583 |
| Joubert Syndrome 7 |
|
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611560 |
| Gallbladder Neuroendocrine Tumor |
|
Elevated gamma-glutamyltransferase level, Biliary tract neoplasm, Cholecystitis, Elevated alkalin... |
ORPHA:100086 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Eczematoid dermatitis, Arthritis |
OMIM:259100 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Atrial septal defect, Ventricular septal defect |
OMIM:263520 |
| Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:619468 |
| Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Hypertension, Neoplasm of the lung |
ORPHA:654 |
| Nephronophthisis 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
| Xfe Progeroid Syndrome |
|
Cachexia, Elevated circulating hepatic transaminase concentration, Hypertension, Failure to thrive |
OMIM:610965 |
| Congenital Syphilis |
|
Pneumonia, Keratitis, Hepatosplenomegaly, Synovitis, Prolonged neonatal jaundice, Pancreatitis, M... |
ORPHA:499009 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... |
ORPHA:227982 |
| Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Patent foramen ovale, Hydronephr... |
ORPHA:96149 |
| Immunodeficiency 60 And Autoimmunity |
|
Ulcerative colitis, Splenomegaly, Crohn's disease, Recurrent sinopulmonary infections, Colitis, P... |
OMIM:618394 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Pneumonia, Elevated gamma-glutamyltransferase level, Abnormality of the hepatic vasculature, Nodu... |
ORPHA:247691 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary embolism, Arterial occlusion, Transient ischemic attack, Abnormal heart valve physiolog... |
ORPHA:464343 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... |
ORPHA:99103 |
| Giant Cell Arteritis |
|
Vasculitis, Hepatic failure, Epistaxis, Abnormal pleura morphology, Cerebral ischemia, Arrhythmia... |
ORPHA:397 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... |
ORPHA:415 |
| Complement Factor I Deficiency |
|
Vasculitis, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Sept... |
OMIM:610984 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Erythroderma, Failure to thrive |
OMIM:302960 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Cutaneous abscess, ... |
ORPHA:331235 |
| Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis, Chronic sinusitis,... |
ORPHA:420741 |
| Yellow Nail Syndrome |
|
Biliary tract neoplasm, Recurrent respiratory infections, Pulmonary arterial hypertension, Sinusi... |
ORPHA:662 |
| Mulibrey Nanism |
|
Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Splenomegaly, Seborrheic dermatiti... |
OMIM:301072 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent pneumonia, Lymphadenitis, Recurrent otitis media, Hepatosplenomegaly, Recurrent sinusit... |
OMIM:618986 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Aspiration pneumonia |
ORPHA:216866 |
| 15q26 overgrowth syndrome |
|
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... |
DECIPHER:81 |
| Ciliary Dyskinesia, Primary, 2 |
|
Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis |
OMIM:606763 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:619167 |
| Kikuchi-Fujimoto Disease |
|
Vasculitis, Elevated circulating hepatic transaminase concentration, Increased circulating lactat... |
ORPHA:50918 |
| Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Elevated circulating hepatic transaminase concentration, Portal hypertension |
OMIM:615506 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... |
ORPHA:99104 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... |
OMIM:120330 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections |
OMIM:618161 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Bic... |
OMIM:300855 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... |
OMIM:102700 |
| Systemic Sclerosis |
|
Intestinal bleeding, Right ventricular failure, Abnormal pulmonary interstitial morphology, Nail ... |
ORPHA:90291 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... |
ORPHA:731 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart mor... |
OMIM:301111 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:100024 |
| Floating-Harbor Syndrome |
|
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Tetralogy of Fallo... |
ORPHA:2044 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
OMIM:266500 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Ventricular septal defect |
OMIM:102500 |
| Dermatomyositis |
|
Lung adenocarcinoma, Arrhythmia, Weight loss, Pruritus, Vasculitis, Increased circulating lactate... |
ORPHA:221 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated circulating hepatic transaminase concentration, Chronic mucocutaneous candidiasis, Recur... |
ORPHA:79124 |
| Bardet-Biedl Syndrome 6 |
|
Renal cyst, Hypospadias |
OMIM:605231 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
| Zinc Deficiency, Transient Neonatal |
|
Eczematoid dermatitis |
OMIM:608118 |
| Immunodeficiency 31C |
|
Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Weight los... |
OMIM:614162 |
| 22Q11.2 Deletion Syndrome |
|
Renal hypoplasia, Tetralogy of Fallot, Vesicoureteral reflux, Abnormal pulmonary valve morphology... |
ORPHA:567 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss... |
ORPHA:103918 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... |
OMIM:300280 |
| Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Dilated ... |
OMIM:203800 |
| Familial Mediterranean Fever |
|
Erysipelas, Pleural effusion, Splenomegaly, Crohn's disease, Orchitis, Peritonitis, Arthritis, He... |
OMIM:249100 |
| Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia |
ORPHA:140896 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hematochezia, Cachexia |
OMIM:175500 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Hashimoto thyroiditis, Angina pectoris, Cachexia, Telangiectasia, Intracranial hemorrhage |
ORPHA:109 |
| Igg4-Related Kidney Disease |
|
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Ret... |
ORPHA:449395 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Decreased activity of NADPH oxidase, Pancreatitis, Failure to thrive, Aspiration pneumonia |
ORPHA:431361 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Otitis media, Splenom... |
OMIM:602450 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:66661 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... |
OMIM:216360 |
| Pyomyositis |
|
Myositis, Weight loss, Sudden cardiac death, Recurrent cutaneous abscess formation |
ORPHA:764 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Alveolar Echinococcosis |
|
Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesenter... |
ORPHA:284 |
| Coccidioidomycosis |
|
Pneumonia, Vasculitis, Folliculitis, Vasospasm, Exudative pleural effusion, Morbilliform rash, Os... |
ORPHA:228123 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Skin rash, Splenomega... |
OMIM:617591 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... |
ORPHA:567983 |
| Meckel Syndrome, Type 4 |
|
Renal cyst, Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
| Crimean-Congo Hemorrhagic Fever |
|
Morbilliform rash, Erythema nodosum, Hepatomegaly, Jaundice, Tachycardia, Epididymitis, Diffuse a... |
ORPHA:99827 |
| Whim Syndrome |
|
Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Atel... |
ORPHA:51636 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Psoriasiform dermatitis,... |
ORPHA:436252 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Bronchiectasis, Aspiration pneumonia |
OMIM:618253 |
| Familial Mediterranean Fever |
|
Vasculitis, Erysipelas, Acute hepatic failure, Skin rash, Splenomegaly, Orchitis, Peritonitis, Ar... |
ORPHA:342 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia |
OMIM:236500 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Recurrent otitis medi... |
OMIM:600802 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Obesity |
ORPHA:813 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Chronic hepatic fail... |
ORPHA:465508 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Neuroendocrine Tumor Of The Colon |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Right ventricular failure, ... |
ORPHA:100080 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,... |
OMIM:301074 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Cerebral vasculitis, ... |
OMIM:613179 |
| Acrorenal-Mandibular Syndrome |
|
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder |
OMIM:200980 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Renal insufficiency, Ventricular septal defect, Truncus arteriosus, Renal cy... |
OMIM:617478 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusitis, Conjunctivit... |
OMIM:601495 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Splenomegaly, Abnormal card... |
OMIM:249000 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Micropenis,... |
OMIM:616897 |
| Osteosarcoma |
|
Abnormal circulating lactate dehydrogenase concentration, Weight loss, Increased circulating lact... |
ORPHA:668 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Hypertrophic cardiomyopathy, Weight loss, Hepatomegaly, Recurrent respiratory ... |
ORPHA:1842 |
| Acute Disseminated Encephalomyelitis |
|
Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis |
ORPHA:83597 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concentration, Ab... |
ORPHA:398063 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Ciliary Dyskinesia, Primary, 37 |
|
Bronchiectasis, Chronic rhinitis |
OMIM:617577 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... |
ORPHA:217563 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Spl... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Spl... |
OMIM:233710 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Neoplasm of the heart, Hydroureter, Megacystis |
ORPHA:2241 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syndrome |
OMIM:617713 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi... |
OMIM:620511 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis |
ORPHA:99931 |
| Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Glandular hypospadias, Tetralogy of Fallot,... |
ORPHA:2473 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Vexas Syndrome |
|
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho... |
OMIM:301054 |
| Rheumatoid Arthritis |
|
Vasculitis, Rheumatoid arthritis, Weight loss |
OMIM:180300 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Heart murmur |
ORPHA:1867 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Acute kidney injury, Cardiomegaly |
OMIM:618886 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Autoimmune Lymphoproliferative Syndrome |
|
Vasculitis, Hepatitis, Hepatocellular carcinoma, Recurrent aphthous stomatitis, Hypersplenism, Sp... |
ORPHA:3261 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating hepatic transaminase concentration, Weight loss, Abnormal lung morphology, A... |
ORPHA:54251 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Cardiomyopathy, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Cachexia, Recurrent sinopulmonary infections, Recurrent respiratory infections |
ORPHA:647 |
| Caroli Syndrome |
|
Hepatomegaly, Polycystic kidney dysplasia, Abnormality of the kidney |
ORPHA:480520 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Eczematoid dermatitis, Failure to thrive, Obesity, Seborrheic dermatitis, Wolff-Parkinson-White s... |
ORPHA:369950 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Hepatospleno... |
ORPHA:2072 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Crohn's disease, Wolff-Parkinson-White synd... |
OMIM:619705 |
| Primary Ciliary Dyskinesia |
|
Atelectasis, Polysplenia, Recurrent otitis media, Pulmonary situs ambiguus, Respiratory tract inf... |
ORPHA:244 |
| Klatskin Tumor |
|
Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
| Bor Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... |
ORPHA:107 |
| Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lymphadenitis |
ORPHA:90156 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Spl... |
OMIM:233690 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
ORPHA:30391 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Obesity |
ORPHA:85293 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric... |
ORPHA:100082 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral stenosis, Renal cyst, Hyperca... |
OMIM:615398 |
| Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Car... |
ORPHA:391428 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... |
OMIM:174000 |
| Panbronchiolitis, Diffuse |
|
Bronchiectasis |
OMIM:604809 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Exercise-induced myoglobinuria, Cardiomegaly,... |
OMIM:201475 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Reduced tissue thymidine phosphorylase activity, Weight loss |
OMIM:603041 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Abnormal circulating enzyme concentration or activity, Aspiration pneumonia |
ORPHA:79264 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... |
ORPHA:79126 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly |
ORPHA:231154 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thrive, Recurrent otitis medi... |
OMIM:620233 |
| Roifman-Chitayat Syndrome |
|
Pneumonia, Arthritis |
OMIM:613328 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia |
OMIM:253700 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Weight loss, Hypertension, Internal hemorrhage |
ORPHA:69077 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Polycythemia Vera |
|
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... |
ORPHA:729 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension... |
ORPHA:90062 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy |
OMIM:602579 |
| Trisomy 13 |
|
Abnormality of the ureter, Ventricular septal defect, Hydronephrosis, Displacement of the urethra... |
ORPHA:3378 |
| Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:803 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Weight loss |
ORPHA:449400 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... |
ORPHA:2973 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Tetralogy of Fallot, Muscular ventricular septal defect, Patent foramen ovale, ... |
OMIM:210710 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia |
OMIM:607361 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... |
ORPHA:1834 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive, M... |
OMIM:615816 |
| Sapho Syndrome |
|
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... |
ORPHA:793 |
| Mccune-Albright Syndrome |
|
Cholestasis, Hepatocellular adenoma, Pancreatitis, Hepatitis |
ORPHA:562 |
| Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:94080 |
| Immunodeficiency 17 |
|
Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Recurrent respiratory infection... |
OMIM:615607 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Corneal neovascularization, Ke... |
OMIM:158310 |
| Meckel Syndrome, Type 10 |
|
Micropenis, Renal cyst, Hypospadias |
OMIM:614175 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Punctate keratitis, Weight loss, Arthritis |
ORPHA:92050 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Pgm3-Cdg |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis,... |
ORPHA:443811 |
| Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Eczematoid dermatitis, Pancreatic hypoplasia, Failure to thrive, Superficial derm... |
ORPHA:83617 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Hepatomegaly, Chronic otitis media, Splenomegaly |
ORPHA:169090 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... |
OMIM:130650 |
| Pemphigus Vulgaris |
|
Weight loss, Recurrent cutaneous abscess formation |
ORPHA:704 |
| Trichothiodystrophy |
|
Eczematoid dermatitis, Cardiomyopathy, Congenital exfoliative erythroderma, Keratoconjunctivitis ... |
ORPHA:33364 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Atr... |
OMIM:220500 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Pustule, Weight loss, Conjunctivitis, Cheilitis, Blepharitis |
ORPHA:37 |
| Marfan Syndrome |
|
Aortic regurgitation, Spontaneous pneumothorax, Pulmonary artery dilatation, Congestive heart fai... |
ORPHA:558 |
| Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep... |
OMIM:219700 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypoplastic left heart, Multicystic kidney dysplasia |
OMIM:618829 |
| Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
| Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Hepatosplenomegaly, Aortic regurgitation |
ORPHA:309288 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... |
OMIM:137920 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial... |
ORPHA:261197 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... |
ORPHA:887 |
| Thymoma |
|
Rheumatoid arthritis, Myositis, Weight loss, Glomerulonephritis, Neoplasia of the pleura, Ulcerat... |
ORPHA:99867 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Hepatosplenomegaly, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocycl... |
ORPHA:85408 |
| Scorpion Envenomation |
|
Cardiogenic shock, Increased circulating lactate dehydrogenase concentration, Prominent U wave, C... |
ORPHA:466677 |
| Femoral-Facial Syndrome |
|
Abnormal renal collecting system morphology, Renal agenesis, Truncus arteriosus, Ventricular sept... |
OMIM:134780 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Pleural effusion, Peritonitis, Telangiec... |
ORPHA:679 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Hypotension, Failure to thrive... |
ORPHA:293978 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... |
OMIM:619377 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Wilson Disease |
|
Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran... |
OMIM:277900 |
| Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia |
ORPHA:31824 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Renal cyst, Ventricular septal defect |
ORPHA:166035 |
| Sickle Cell Disease |
|
Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, Hepatomegaly |
OMIM:603903 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive... |
OMIM:212750 |
| Kleefstra Syndrome |
|
Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficiency, Ventricular septal defect, Hydro... |
ORPHA:261494 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal cardiac septum morphology |
ORPHA:2075 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
| Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Weight loss, Giant hypertrophic gastritis |
ORPHA:2494 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Osteo... |
OMIM:306400 |
| Gm1 Gangliosidosis |
|
Failure to thrive, Cardiomyopathy, Aspiration pneumonia, Congestive heart failure, Hepatosplenome... |
ORPHA:354 |
| Cockayne Syndrome |
|
Elevated circulating hepatic transaminase concentration, Malar rash, Retinal hemorrhage, Splenome... |
ORPHA:191 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Inflammation of the large intestine, Recurrent pneumonia, Hematochezia, Failure to th... |
OMIM:617718 |
| Acute Radiation Syndrome |
|
Telangiectasia, Hypotension, Inflammatory abnormality of the skin, Interstitial pneumonitis |
ORPHA:454831 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia |
ORPHA:204 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu... |
ORPHA:100075 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... |
ORPHA:36426 |
| Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infection... |
OMIM:619632 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Immunodeficiency 43 |
|
Lung abscess, Recurrent respiratory infections, Bronchiectasis |
OMIM:241600 |
| Schwartz-Jampel Syndrome |
|
Decreased body weight, Elevated circulating aldolase concentration, Pulmonary arterial hypertensi... |
ORPHA:800 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Noncompaction cardiomyopathy, ... |
ORPHA:3208 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst |
OMIM:617100 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia |
ORPHA:2031 |
| Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th... |
ORPHA:60025 |
| Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Subco... |
ORPHA:340 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... |
ORPHA:2461 |
| Insulin-Resistance Syndrome Type B |
|
Pneumonia, Nephritis, Biliary cirrhosis, Abnormality of body weight, Skin rash, Decreased body we... |
ORPHA:2298 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia, Small for gestational age |
ORPHA:79243 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Car... |
OMIM:212065 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Increased circulating lactate dehydrogenase concentration, Weight loss, Pancreatitis, Jaundice, P... |
ORPHA:370348 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Hypotension, Failure to thrive, Arrhythmia, Telangiectasia of the skin, Pruritus |
ORPHA:2135 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Elevated circulating alkaline phosphatase concentration, Microvesicula... |
OMIM:300868 |
| Good Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Bronchiectasis, Sinusitis |
ORPHA:169105 |
| Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Splenomegaly, Cirr... |
ORPHA:355 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal P wave, Postural hypotension with compensatory tachycardia,... |
ORPHA:85443 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Esophagitis, Pulmo... |
ORPHA:3342 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts |
ORPHA:1318 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Failure to thrive, Aspiration pneumonia |
OMIM:616430 |
| Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Weight loss, Neoplasm of the lung |
ORPHA:1332 |
| Secondary Short Bowel Syndrome |
|
Cholestasis, Enterocolitis, Weight loss, Failure to thrive |
ORPHA:95427 |
| Familial Thrombocytosis |
|
Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmonary arterial hypertension, Sync... |
ORPHA:71493 |
| Central Diabetes Insipidus |
|
Weight loss, Failure to thrive |
ORPHA:178029 |
| Bloom Syndrome |
|
Pneumonia, Bronchitis, Skin rash, Otitis media, Respiratory tract infection, Telangiectasia, Abdo... |
ORPHA:125 |
| Uremic Pruritus |
|
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections, Elevated total serum t... |
ORPHA:94059 |
| Mosaic Trisomy 9 |
|
Horseshoe kidney, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular septal... |
ORPHA:99776 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Seborrheic dermatitis |
ORPHA:276280 |
| Blau Syndrome |
|
Posterior uveitis, Keratitis, Abnormality of the liver, Large vessel vasculitis, Skin rash, Splen... |
ORPHA:90340 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Colitis, Recurrent pneumonia, Bronchiectasis |
OMIM:301220 |
| Sandhoff Disease |
|
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... |
OMIM:268800 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Hypertensive crisis, Respiratory tract infection, Hypertension, Pancreatitis, Myocardi... |
ORPHA:544482 |
| Monosomy 22 |
|
Hepatosplenomegaly, Seborrheic dermatitis |
ORPHA:96123 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Emphysema, Pleural effusion, Splenomegaly, Iridocyclitis, Pu... |
OMIM:181000 |
| Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Trisomy 1Q |
|
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis, Ventricular septal defect |
ORPHA:261344 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Keratitis, Failure to thrive, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Weight loss,... |
ORPHA:1018 |
| Joubert Syndrome 14 |
|
Renal cyst, Ventricular septal defect |
OMIM:614424 |
| Graves Disease |
|
Weight loss, Congestive heart failure |
OMIM:275000 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... |
ORPHA:18 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... |
ORPHA:537 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Horseshoe kidney, Renal cyst, Ventricular septal defect |
OMIM:250410 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, V... |
ORPHA:49 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Recurrent respiratory infections |
ORPHA:98905 |
| Erdheim-Chester Disease |
|
Congestive heart failure, Osteomyelitis, Pleural effusion, Skin rash, Weight loss, Abnormal pulmo... |
ORPHA:35687 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Inflammatory abnormality of the skin, Failure to thrive, Bradycardia |
OMIM:610768 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy |
OMIM:208000 |
| Juvenile Polyposis Of Infancy |
|
Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Cachexia, Melena |
ORPHA:79076 |
| Stickler Syndrome |
|
Slender build, Arrhythmia, Cachexia, Osteoarthritis, Recurrent respiratory infections, Chronic ot... |
ORPHA:828 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria |
OMIM:619259 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia |
OMIM:608022 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Renal cyst, Hyperoxaluria |
OMIM:601539 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Nephroblastoma, Renal cyst, Atrial septal defect, Micropenis, Hypos... |
OMIM:257300 |
| Diffuse Alveolar Hemorrhage |
|
Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT, Pulmonary venous hypertension,... |
ORPHA:90060 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... |
OMIM:277000 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa... |
ORPHA:95430 |
| Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma |
ORPHA:2869 |
| Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
| Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis |
ORPHA:2483 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia, Jaundice, Failure to thrive |
ORPHA:90790 |
| Ileal Neuroendocrine Tumor |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu... |
ORPHA:100078 |
| Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension, Interstitial pneumonitis |
ORPHA:330021 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Hypercalcemia, Infantile, 1 |
|
Weight loss, Failure to thrive |
OMIM:143880 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid arthritis, Budd-Chiari syndrome, Large vessel vasculitis, Psoriasiform dermatitis, Has... |
ORPHA:49041 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Hepatomegaly, Hypospadias |
ORPHA:912 |
| Amyloidosis, Hereditary Systemic 1 |
|
Urinary incontinence, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Decreased liver function, Congestive heart failure, Hepatosplenomega... |
ORPHA:85450 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Restrictive cardiomyopathy, Abnormality of the urinary system, Abnormal heart m... |
ORPHA:369837 |
| Malt Lymphoma |
|
Posterior uveitis, Recurrent respiratory infections, Weight loss |
ORPHA:52417 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Camurati-Engelmann Disease |
|
Hypertrophic cardiomyopathy, Slender build, Splenomegaly, Elevated circulating aldolase concentra... |
ORPHA:1328 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Lip... |
ORPHA:20 |
| African Trypanosomiasis |
|
Myelitis, Keratitis, Third degree atrioventricular block, Second degree atrioventricular block, C... |
ORPHA:3385 |
| Plague |
|
Inflammation of the large intestine, Hypotension, Lymphadenitis, Chapped lip, Skin rash, Splenome... |
ORPHA:707 |
| Meckel Syndrome, Type 6 |
|
Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder |
OMIM:612284 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Von Hippel-Lindau Disease |
|
Cardiomyopathy, Palpitations, Myocardial infarction, Arrhythmia, Pancreatic islet cell adenoma, M... |
ORPHA:892 |
| Cystic Fibrosis |
|
Elevated circulating hepatic transaminase concentration, Decreased body mass index, Failure to th... |
ORPHA:586 |
| Marburg Hemorrhagic Fever |
|
Uveitis, Elevated circulating hepatic transaminase concentration, Hypotension, Subconjunctival he... |
ORPHA:99826 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Penile hypospadias, Ventricular septal defect, Renal cyst, Micropenis |
ORPHA:1692 |
| Sarcoidosis |
|
Abnormal pleura morphology, Arrhythmia, Weight loss, Erythema nodosum, Hepatomegaly, Tubulointers... |
ORPHA:797 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss, Orthostatic hypotension |
OMIM:605543 |
| Gaucher Disease, Type Ii |
|
Bronchiolitis, Failure to thrive, Splenomegaly, Hepatomegaly, Recurrent aspiration pneumonia |
OMIM:230900 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... |
ORPHA:308552 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Weight loss |
ORPHA:103910 |
| Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Tachycardia, Weight loss, Failure to thrive |
ORPHA:35858 |
| Thauvin-Robinet-Faivre Syndrome |
|
Bifid ureter, Mitral valve prolapse, Ventricular septal defect, Nephroblastoma, Renal cyst, Renal... |
OMIM:617107 |
| Shwachman-Diamond Syndrome |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Pancre... |
ORPHA:811 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss |
OMIM:613239 |
| Infantile Neuroaxonal Dystrophy |
|
Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia |
ORPHA:35069 |
| Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia |
ORPHA:52368 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Raynaud phenomenon,... |
OMIM:607944 |
| Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Reduced leukocyte arylsulfatase B activity, Recurrent upper respiratory tract infectio... |
OMIM:253200 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Urinary retention, Ureterocele... |
ORPHA:79404 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Increased circulating lactate dehydrogenase concentration, Weight loss, Int... |
ORPHA:747 |
| X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
| Cryptococcosis |
|
Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritonitis, Prost... |
ORPHA:1546 |
| Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... |
ORPHA:1333 |
| Acute Promyelocytic Leukemia |
|
Epistaxis, Diffuse alveolar hemorrhage, Weight loss, Stomatitis |
ORPHA:520 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Mody |
|
Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney |
ORPHA:552 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Cardiomyopathy, Abnormal circulating enzyme concentration o... |
ORPHA:565612 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Systemic Lupus Erythematosus |
|
Discoid lupus rash, Malar rash, Weight loss, Lupus nephritis, Raynaud phenomenon, Arthritis, Chei... |
ORPHA:536 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal cyst, Mitral stenosis, Renal dysplasia |
OMIM:617260 |
| Digeorge Syndrome |
|
Recurrent pneumonia, Cholelithiasis, Atelectasis, Recurrent otitis media, Obesity, Hepatic steato... |
OMIM:188400 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Renal cyst, Ovarian dermoid cyst |
ORPHA:480536 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy |
ORPHA:268 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pericardial effusion, Pancreatic cysts, E... |
ORPHA:464329 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusi... |
OMIM:615067 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... |
ORPHA:93111 |
| Glucagonoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Skin rash, Neoplasm of the pancreas, Inter... |
ORPHA:97280 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Patent foramen ovale, Hydronephrosis, Renal cyst, Ureter... |
OMIM:618460 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal d... |
OMIM:618454 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
| Solitary Fibrous Tumor |
|
Neoplasm of the liver, Weight loss, Neoplasia of the pleura, Abnormal peritoneum morphology, Neop... |
ORPHA:2126 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Hydronephrosis, Abnorma... |
ORPHA:2059 |
| Leukocyte Adhesion Deficiency |
|
Pneumonia, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Otitis media, Respiratory tra... |
ORPHA:2968 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Neoplasm of the lung |
ORPHA:142 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
| Pallister-Hall Syndrome |
|
Renal hypoplasia, Hydroureter, Distal urethral duplication, Ventricular septal defect, Hydronephr... |
OMIM:146510 |
| Mirage Syndrome |
|
Decreased body weight, Intracranial hemorrhage, Hypoplastic spleen, Aspiration pneumonia |
OMIM:617053 |
| Huntington Disease |
|
Weight loss, Decreased body mass index |
ORPHA:399 |
| Occipital Horn Syndrome |
|
Cholestasis, Jaundice, Esophagitis, Hepatitis |
ORPHA:198 |
| Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Cardiac rhabdomyoma, Renal cyst |
OMIM:191100 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Hepatomegaly, Mitral regurgitation |
OMIM:617809 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Ventricular septal defect, Hydrone... |
ORPHA:464311 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent upper respiratory tract infections, Keratitis, Eczematoid dermatitis, Corneal neovascul... |
OMIM:308205 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia |
OMIM:258865 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Failure to thrive |
OMIM:603467 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Recurrent aspiration pneumonia, Elevated circulating hepatic transaminase concentra... |
ORPHA:73230 |
| Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Weight loss |
ORPHA:1302 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly,... |
OMIM:602782 |
| Genitopatellar Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Atrial septal defect |
ORPHA:85201 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... |
OMIM:600740 |
| Tuberous Sclerosis 2 |
|
Cardiac rhabdomyoma, Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Absence of renal cor... |
OMIM:613254 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Roberts-Sc Phocomelia Syndrome |
|
Long penis, Horseshoe kidney, Ventricular septal defect, Atrial septal defect, Polycystic kidney ... |
OMIM:268300 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Cornelia De Lange Syndrome 1 |
|
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Ventricu... |
OMIM:122470 |
| Histiocytoid Cardiomyopathy |
|
Polycystic ovaries, Cardiomegaly, Renal cyst, Ventricular septal defect, Hepatomegaly |
ORPHA:137675 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Trun... |
ORPHA:2538 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Hepatosplenomegaly, Seborrheic dermatitis |
OMIM:274000 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Ventricular septal defect, Hydrone... |
ORPHA:464306 |
| Trisomy 20P |
|
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... |
ORPHA:261318 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:276621 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Elevated total serum tryptase, Splenomegaly, Syncope, Weight loss, Hepatomegaly, Tac... |
ORPHA:98849 |
| Branchio-Oculo-Facial Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis |
ORPHA:1297 |
| Mucolipidosis Type Ii |
|
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg... |
ORPHA:576 |
| Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Unusual skin infection, Respiratory tract infection, Infectious encephalitis, Pustule,... |
ORPHA:68 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic... |
OMIM:619991 |
| Joubert Syndrome 2 |
|
Renal cyst, Nephronophthisis, Renal insufficiency |
OMIM:608091 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Increa... |
ORPHA:94093 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
| Poems Syndrome |
|
Abnormality of skin physiology, Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, ... |
ORPHA:2905 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventric... |
ORPHA:980 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Proteus Syndrome |
|
Pulmonary cyst, Bronchogenic cyst, Pulmonary embolism, Abnormal lung lobation, Splenomegaly, Cach... |
ORPHA:744 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:99880 |
| Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Hepatomegaly |
ORPHA:1454 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly |
ORPHA:79330 |
| Glycogen Storage Disease Ii |
|
Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Chops Syndrome |
|
Obesity, Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia |
OMIM:616368 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Urinary bladder inflammation, Skin rash, Orchitis, Pruritus |
ORPHA:556 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:143 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent aspiration pneumonia, Recurrent pneumonia |
OMIM:300472 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic cysts |
OMIM:208500 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Horseshoe kidney, Ventricular septal defect, Hydronephrosis, Renal ... |
ORPHA:2092 |
| Adrenocortical Carcinoma |
|
Palpitations, Lung adenocarcinoma, Increased body weight, Weight loss, Hypertension |
ORPHA:1501 |
| Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
| Cholera |
|
Tachycardia, Hypotension, Hypovolemic shock, Aspiration pneumonia |
ORPHA:173 |
| Fucosidosis |
|
Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria |
OMIM:230000 |
| Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Decreased beta-galactosidase activity, Cardiomyopathy, Aspiration pneumonia |
ORPHA:79255 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Mitral valve pro... |
ORPHA:500095 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
| Distal Deletion 15Q |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Double outlet right ventricle with doubly c... |
ORPHA:1596 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Budd-Chiari syndrome, Hepatic necrosis, Interstitial pneumonitis, Cirrhosis, Pulmonary fibrosis |
OMIM:127550 |
| Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Weight loss |
ORPHA:677 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Weight loss, Bradycardia |
ORPHA:221098 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... |
OMIM:123700 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Acute kidney injury, Nephronophthisis, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduce... |
OMIM:266920 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Mucopolysaccharidosis Type 3 |
|
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Splenomegaly, Abnormal m... |
ORPHA:581 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Increased circulating lactate dehydrogenase concentration |
ORPHA:514 |
| Neuroblastoma, Susceptibility To, 1 |
|
Weight loss, Hypertension, Failure to thrive |
OMIM:256700 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Splenomegaly, Nep... |
ORPHA:116 |
| Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
| Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Hepatomegaly, Cy... |
OMIM:269860 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypotension, Weight loss, Hypertension |
ORPHA:134 |
| Von Hippel-Lindau Syndrome |
|
Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma |
OMIM:193300 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Alström Syndrome |
|
Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glome... |
ORPHA:64 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enl... |
OMIM:252500 |
| D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Renal cyst, Splenomegaly |
OMIM:261515 |
| 8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonary artery stenosis, Obesity, Weight loss |
ORPHA:251071 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Weight loss |
ORPHA:309031 |
| Grfoma |
|
Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Neoplasm of the pancreas, ... |
ORPHA:97261 |
| Robinow Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Abnormal heart morphology, Ventricular septal defect,... |
ORPHA:97360 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm, Ch... |
ORPHA:538 |
| Pearson Syndrome |
|
Glycosuria, Cardiomyopathy, Abnormal heart morphology, Renal insufficiency, Splenomegaly, Protein... |
ORPHA:699 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Alpha-Mannosidosis, Infantile Form |
|
Pneumonia, Aortic regurgitation, Hepatosplenomegaly, Abnormal circulating enzyme concentration or... |
ORPHA:309282 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:29072 |
| Smith-Lemli-Opitz Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal agenesis, Hypert... |
OMIM:270400 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased circulating lactate dehydrogenase concentration, Hypertrophic cardiomyopathy, Hepatospl... |
OMIM:613673 |
| Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Neoplasm of the pancreas, ... |
ORPHA:97278 |
| Fryns Syndrome |
|
Renal agenesis, Ventricular septal defect, Hydronephrosis, Renal cyst, Atrial septal defect, Uret... |
OMIM:229850 |
| 2P15P16.1 Microdeletion Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:261349 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Bradycardia |
ORPHA:70 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Right ventricular failure, Pleural effusion, Constrictive pericarditis, Cirr... |
ORPHA:90363 |
| Chronic Graft Versus Host Disease |
|
Elevated circulating hepatic transaminase concentration, Urinary bladder inflammation, Fasciitis,... |
ORPHA:99921 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Renal cyst, Hypospadias |
OMIM:616975 |
| Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Splenomegaly, Patent foramen ovale, Renal cyst, Left ventricular hypertrophy... |
OMIM:613610 |
| Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal ... |
ORPHA:1507 |
| Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent aspiration pneumonia, Elevated circulating hepatic transaminase concentration, Failure ... |
ORPHA:397715 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss, Pleural effusion |
ORPHA:90362 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Tetra... |
OMIM:118450 |
| Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Ventricular septal defect, Renal cyst, Atrial septal defect, Ectopic kidney |
OMIM:117650 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent aspiration pneumonia, Psoriasiform dermatitis, Arthritis, Chronic oral candidiasis |
ORPHA:221139 |
| Williams Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Over... |
ORPHA:904 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3301 |
| Pagod Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Situs inversus totalis, Renal hypoplasia/ap... |
ORPHA:991 |
| Acute Adrenal Insufficiency |
|
Hypotension, Failure to thrive, Recurrent acute respiratory tract infection, Weight loss, Orthost... |
ORPHA:95409 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Joubert Syndrome 21 |
|
Renal cyst, Splenomegaly, Hyperechogenic kidneys |
OMIM:615636 |
| Marshall-Smith Syndrome |
|
Recurrent upper respiratory tract infections, Failure to thrive, Aspiration pneumonia, Decreased ... |
OMIM:602535 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Cardiomyopathy, Splenomegaly, Nephroblastoma, Ventricu... |
ORPHA:373 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Failure to thrive |
ORPHA:35710 |
| Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypotension, Weight loss, Failure to thrive |
ORPHA:361 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Weight loss, Failure to thrive, Aspiration pneumonia |
ORPHA:2020 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal cyst, Renal hypoplasia |
OMIM:616300 |
| Somatostatinoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intermittent jau... |
ORPHA:97283 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Weight loss, Neoplasm of the pancreas, He... |
ORPHA:440437 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Nephroblastoma, Urinary retention, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Tay-Sachs Disease |
|
Abnormal circulating enzyme concentration or activity, Aspiration pneumonia |
ORPHA:845 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Inflammatory abnormality of the skin, Keratitis, Elevated circulating hepatic transami... |
ORPHA:95455 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect |
ORPHA:1393 |
| Zollinger-Ellison Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Esophagitis, Weight loss, Jaundice, Extrahepatic chole... |
ORPHA:913 |
| Schinzel-Giedion Syndrome |
|
Abnormal heart morphology, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephr... |
ORPHA:798 |
| Neuroblastoma |
|
Hypertension, Weight loss, Increased circulating lactate dehydrogenase concentration |
ORPHA:635 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Weight loss |
ORPHA:97289 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:97286 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Tetrasomy 9P |
|
Glue ear, Absent gallbladder, Biliary atresia, Myositis, Pulmonary arterial hypertension, Raynaud... |
ORPHA:3310 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Aymé-Gripp Syndrome |
|
Pericarditis |
ORPHA:1272 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal localization of kidney, Multicystic kidney dysplasia, Atrioventricular canal defect, Ure... |
ORPHA:818 |
| 1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Abnormal heart valve morphology, Tetralogy of Fallot, Hydronephrosis, Ren... |
ORPHA:1606 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Subvalvular aortic stenosis, Atrial septal defect, Nephroblastoma |
ORPHA:1052 |
| Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Mitral stenosis, Splenomegaly, Ventricular septal defect, Multiple renal c... |
ORPHA:955 |
| Miller-Dieker Lissencephaly Syndrome |
|
Recurrent aspiration pneumonia, Failure to thrive |
OMIM:247200 |
| Trisomy 10P |
|
Abnormal heart morphology, Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... |
ORPHA:365 |
| Degcags Syndrome |
|
Pneumonia, Failure to thrive, Cholestasis, Hepatosplenomegaly, Abnormal spleen morphology, Pulmon... |
OMIM:619488 |
| Castleman Disease |
|
Jaundice, Restrictive cardiomyopathy, Weight loss |
ORPHA:160 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia |
OMIM:250220 |
| Renal Nutcracker Syndrome |
|
Tachycardia, Syncope, Weight loss, Orthostatic hypotension |
ORPHA:71273 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Hermansky-Pudlak Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Weight loss, Pulmonary fibrosis |
ORPHA:79430 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Skin rash, Scleritis, Vitreous hemorrhag... |
ORPHA:91500 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Keratoconjunctivitis sicca, Weight loss, Tubulointerstitial nephritis, Thyroiditis, Ret... |
ORPHA:79078 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Thyrotoxic Periodic Paralysis |
|
Second degree atrioventricular block, Obesity, Palpitations, Shortened PR interval, Weight loss, ... |
ORPHA:79102 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Ventricular septal d... |
ORPHA:2308 |
| Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Respiratory tract infection |
ORPHA:79138 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Atrial septal defect, Ventricular septal defect |
OMIM:300373 |
| Townes-Brocks Syndrome |
|
Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Vesicoureteral reflux, Abnormal pulmo... |
ORPHA:857 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Interstitial pneumoniti... |
ORPHA:77293 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Meckel Syndrome |
|
Multicystic kidney dysplasia, Situs inversus totalis, Urethral atresia, Ureteral duplication, Pan... |
ORPHA:564 |
| Vipoma |
|
Intrahepatic cholestasis, Neoplasm of the pancreas, Intermittent jaundice, Neoplasm of the liver,... |
ORPHA:97282 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pneumonia, Aortic valve stenosis, Failure to thrive, Obesity, Otitis media, Cardiac conduction ab... |
ORPHA:353281 |
| Niemann-Pick Disease Type C |
|
Hepatic failure, Aspiration pneumonia, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly... |
ORPHA:646 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Right ventr... |
OMIM:312870 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Failure to thrive, Weight loss, Reduced pancreatic beta cells, Hypovolemia |
ORPHA:99885 |
| Ayme-Gripp Syndrome |
|
Pericarditis |
OMIM:601088 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu... |
ORPHA:534 |
| Norrie Disease |
|
Cachexia, Failure to thrive |
ORPHA:649 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Small for gestational age |
ORPHA:424 |
| Addison Disease |
|
Hypotension, Failure to thrive, Hashimoto thyroiditis, Weight loss, Orthostatic hypotension |
ORPHA:85138 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Cardiomyopathy, Horseshoe kidney, Abnormal heart morphology, Vesicoureter... |
ORPHA:110 |
| Aicardi-Goutières Syndrome |
|
Micropenis, Hepatosplenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:51 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Aspiration pneumonia |
ORPHA:99027 |
| Goodpasture Syndrome |
|
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Blo... |
OMIM:233450 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia, Aspiration pneumonia |
OMIM:619482 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega... |
ORPHA:3472 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale |
OMIM:620371 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts |
ORPHA:2750 |
| Peters Plus Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia... |
ORPHA:709 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Left ventricular systolic dysfunction, Transient isc... |
ORPHA:740 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Weight loss, Mitral regurgitation |
OMIM:607459 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Weight loss |
OMIM:301310 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Displacement of the urethral meatus |
ORPHA:1556 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect |
ORPHA:96191 |
| Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Hepatoblastoma, Aspiration pneumonia |
ORPHA:1465 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Failure to thrive, Shock, Weight loss, Acne, Hypovolemia |
ORPHA:90794 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Multiple Myeloma |
|
Weight loss, Pleural effusion, Splenomegaly |
ORPHA:29073 |
| Townes-Brocks Syndrome 1 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Renal... |
OMIM:107480 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis,... |
ORPHA:51608 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Pulmonary arterial hypertension, Obesity, Aspiration pneumonia |
ORPHA:444077 |
| Hereditary Late-Onset Parkinson Disease |
|
Orthostatic hypotension due to autonomic dysfunction, Weight loss |
ORPHA:411602 |
| Choreoacanthocytosis |
|
Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Elevated circu... |
ORPHA:2388 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Pancreatic adenocarcinoma, Capillary fragility, Pancreatoblastoma, Rec... |
ORPHA:99889 |
| Fontaine Progeroid Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Neonatal death, Pneumothorax, Pulmonary arterial hype... |
OMIM:612289 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pneumonia, Aortic valve stenosis, Failure to thrive, Obesity, Otitis media, Cardiac conduction ab... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pneumonia, Aortic valve stenosis, Failure to thrive, Obesity, Otitis media, Cardiac conduction ab... |
ORPHA:353277 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Recurrent aspiration pneumonia, Pulmonary arterial hyperten... |
ORPHA:280633 |
| Oculopharyngodistal Myopathy 1 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Weight loss |
OMIM:164310 |
| Wiedemann-Rautenstrauch Syndrome |
|
Pneumonia, Recurrent respiratory infections, Small for gestational age, Failure to thrive |
OMIM:264090 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Renal cyst, Hypospadias |
ORPHA:495875 |
| Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly |
OMIM:620376 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Congestive heart failure, Palpitations, Weight loss, Supraventricular arrhythmia, Ve... |
ORPHA:91347 |
| Alobar Holoprosencephaly |
|
Failure to thrive, Abnormal heart rate variability, Aspiration pneumonia |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Failure to thrive, Abnormal heart rate variability, Aspiration pneumonia |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Failure to thrive, Abnormal heart rate variability, Aspiration pneumonia |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Failure to thrive, Abnormal heart rate variability, Aspiration pneumonia |
ORPHA:220386 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the liver, Weight loss, Neopl... |
ORPHA:144 |
| Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Recurrent otitis media, Conjunctivitis, Recurrent aspiration pn... |
OMIM:616268 |
| Opitz Gbbb Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:2745 |
| Lafora Disease |
|
Recurrent aspiration pneumonia, Hepatic failure |
ORPHA:501 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ventricular septal defe... |
ORPHA:199 |
| Cystinosis, Nephropathic |
|
Failure to thrive, Failure to thrive in infancy, Exocrine pancreatic insufficiency, Splenomegaly,... |
OMIM:219800 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula |
ORPHA:93271 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Mi... |
OMIM:606170 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Multicystic kidney dysplasia, Micropenis |
OMIM:615287 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:256040 |
| C Syndrome |
|
Horseshoe kidney, Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:1308 |
| Fanconi Anemia |
|
Hypertrophic cardiomyopathy, Abnormality of the liver, Weight loss |
ORPHA:84 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Orthostatic hypotension due to autonomic dysfunction, Syncope, Septic a... |
ORPHA:642 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Abnormal heart morphology, Tet... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Abnormal heart morphology, Tet... |
ORPHA:2152 |
| Pmm2-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asp... |
ORPHA:79318 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Duplication of renal pelvis, A... |
ORPHA:261552 |
| Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Insulinoma, Weight loss, Hematemesis, Melena, Hypertension, Neoplasm of th... |
ORPHA:652 |
| Primary Fanconi Renotubular Syndrome |
|
Pulmonary fibrosis, Weight loss |
ORPHA:3337 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Pulmonic stenosis, Aspiration pneumonia |
ORPHA:438213 |
| Branchiooculofacial Syndrome |
|
Renal cyst, Hypospadias, Renal agenesis |
OMIM:113620 |
| Doors Syndrome |
|
Aspiration pneumonia |
ORPHA:79500 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Tetralogy of Fallot, Vesicoureteral reflux, Uretero... |
OMIM:164210 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Renal cyst, Atrial... |
OMIM:601803 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
| Kabuki Syndrome 1 |
|
Recurrent otitis media, Recurrent aspiration pneumonia |
OMIM:147920 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Aspiration pneumonia, Failure to thrive in infancy, Severe failure to thrive, Pul... |
OMIM:216340 |
