Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis |
OMIM:216950 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... |
OMIM:614420 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur... |
ORPHA:567544 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... |
OMIM:613652 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocy... |
OMIM:617006 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
Chilblain Lupus 1 |
|
Antinuclear antibody positivity, Chilblains, Skin ulcer |
OMIM:610448 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... |
OMIM:613779 |
C1Q Deficiency 3 |
|
Discoid lupus rash, Antinuclear antibody positivity, Decreased circulating C1q concentration |
OMIM:620322 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... |
OMIM:618534 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Raynaud phenomenon, Myocarditis, ... |
ORPHA:206569 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:601859 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Alopecia, Recurrent p... |
OMIM:616576 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Vasculitis, Reduced hemolytic complement activity, Systemic lupus erythematos... |
OMIM:614380 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... |
OMIM:619375 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Arthritis, Increased circu... |
ORPHA:69126 |
Systemic Lupus Erythematosus |
|
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... |
OMIM:152700 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... |
ORPHA:90280 |
Myositis |
|
Myositis |
OMIM:160750 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Vomiting, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nephr... |
ORPHA:93552 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, Re... |
OMIM:610163 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage 5 chronic kid... |
OMIM:613496 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... |
OMIM:618108 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Congestive heart failure, Autoimmune antibody... |
ORPHA:3386 |
Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... |
OMIM:209950 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... |
OMIM:253600 |
Idiopathic Pulmonary Hemosiderosis |
|
Rheumatoid factor positive, Nodular pattern on pulmonary HRCT, Cardiomegaly, Crackles, Iron defic... |
ORPHA:99931 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu... |
OMIM:613953 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Auto... |
ORPHA:436159 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections, Abnormal hair morphology |
ORPHA:345 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... |
OMIM:619079 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... |
ORPHA:329918 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Cardiac arr... |
ORPHA:139402 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Q Fever |
|
Respiratory distress, Rheumatoid factor positive, Abnormal left ventricular function, Abnormality... |
ORPHA:781 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthritis, Incr... |
ORPHA:37748 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... |
ORPHA:3261 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... |
OMIM:161900 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Tubulointerstitial nep... |
ORPHA:37042 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent urinary tr... |
OMIM:618495 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema... |
OMIM:609939 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid fa... |
OMIM:615934 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl... |
OMIM:620321 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... |
ORPHA:829 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Simple Cryoglobulinemia |
|
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan... |
ORPHA:91139 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Erythema, Skin ulcer |
ORPHA:2337 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglo... |
ORPHA:449395 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Autoimmunity, Pruritus, My... |
ORPHA:81 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Catastrophic Antiphospholipid Syndrome |
|
Antiphospholipid antibody positivity, Abnormal heart valve morphology, Abnormality of the kidney,... |
ORPHA:464343 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis,... |
ORPHA:90291 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Ground-... |
OMIM:619773 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Hepatomegal... |
ORPHA:809 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Erythema Nodosum, Familial |
|
Erythema nodosum, Erythema |
OMIM:132990 |
Kerion Celsi |
|
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Autoimmunity, Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence of... |
ORPHA:98813 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Legionnaires Disease |
|
Abnormal lung morphology, Cough, Infectious encephalitis, Recurrent pharyngitis, Hepatitis, Respi... |
ORPHA:549 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Hyp... |
ORPHA:83317 |
Thymoma |
|
Myositis, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, ... |
ORPHA:99867 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropathy, Nausea, Decreased g... |
ORPHA:85450 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio... |
OMIM:615897 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... |
ORPHA:563 |
Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa... |
ORPHA:2137 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Cervical ... |
ORPHA:83313 |
Hypocomplementemic Urticarial Vasculitis |
|
Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Pericardial effusion, Ly... |
ORPHA:36412 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:161950 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node... |
ORPHA:277 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Masp2 Deficiency |
|
Complement deficiency, Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... |
OMIM:608971 |
Focal Myositis |
|
Myositis |
ORPHA:48918 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... |
ORPHA:1572 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Increased inflammatory response, Hypertensive crisis, Abnormal h... |
ORPHA:3287 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Vasculitis, Respiratory insuffici... |
ORPHA:375 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Antinuclear antibody positivity, Crescentic glomerulonephritis, Arthr... |
OMIM:616414 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility... |
ORPHA:244 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Chronic diarrhea, Olig... |
OMIM:142680 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Chronic diarr... |
OMIM:304790 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... |
ORPHA:90283 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Vasculitis in the skin, Ab... |
ORPHA:90159 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ... |
OMIM:618048 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Endocardial fibrosis, Absence of lymph... |
OMIM:235550 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce... |
OMIM:618935 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypopla... |
ORPHA:3099 |
Epidermolytic Hyperkeratosis 1 |
|
Scaling skin, Erythroderma |
OMIM:113800 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm... |
ORPHA:183675 |
Polymyositis |
|
Myocardial infarction, Gastroesophageal reflux, Cough, Hepatomegaly, Dilated cardiomyopathy, Vasc... |
ORPHA:732 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, B... |
OMIM:607594 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methyl... |
OMIM:251000 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
Pauci-Immune Glomerulonephritis |
|
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ... |
ORPHA:93126 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Cardiomy... |
ORPHA:79312 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Abnormal pulmonary thoracic imaging findin... |
ORPHA:289390 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... |
ORPHA:443811 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... |
ORPHA:444463 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Pruritus, Erythema, Rheumatoid ... |
ORPHA:79099 |
Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Increa... |
ORPHA:1304 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... |
OMIM:613913 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... |
OMIM:602390 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... |
OMIM:608709 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... |
ORPHA:276 |
Cap Polyposis |
|
Atrophic gastritis, Diarrhea, Hematochezia, Constipation, Colorectal polyposis |
ORPHA:160148 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Dysphagia |
ORPHA:2724 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Autoimmunity, Crackles, Nonproductive cough, Leukocy... |
ORPHA:2902 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Vomiting, Infectious encephalitis, Nausea, Hepatitis, Hypotension... |
ORPHA:36234 |
Immunodeficiency 53 |
|
Recurrent otitis media, Recurrent urinary tract infections, Recurrent pneumonia, Skin rash |
OMIM:617585 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarr... |
OMIM:240500 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Abnormality of the t... |
ORPHA:400 |
Complement Component 2 Deficiency |
|
Purpura, Systemic lupus erythematosus |
OMIM:217000 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Vomiting, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, T... |
OMIM:620233 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... |
ORPHA:470 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Nephrotic syndrome, Art... |
ORPHA:575 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... |
ORPHA:79126 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Port... |
OMIM:615688 |
Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Hepatomegaly, Proteinuria, Glo... |
ORPHA:91138 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ... |
ORPHA:31205 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Renal insufficiency, Sinusitis, Pericarditis, Skin... |
ORPHA:727 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Perifolliculitis, Alopecia of scalp |
OMIM:260910 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Myocarditis, Diarrhea, Oliguria, Hypotension, Arrhythmia, Panc... |
ORPHA:188 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decre... |
ORPHA:397596 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... |
OMIM:619858 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... |
ORPHA:1830 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Autoimmunity, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Protracted diarrhe... |
ORPHA:169160 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Antinuclear antibody positivity, Autoimmune antibody positivi... |
ORPHA:231111 |
Sandhoff Disease |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Congestive heart failure, Cherry re... |
ORPHA:796 |
Lead Poisoning |
|
Abnormal T cell morphology, Tubulointerstitial nephritis, Vomiting, Decreased male libido, Nausea... |
ORPHA:330015 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hepat... |
OMIM:203800 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Fetal ascites, Pericardial effusion, Myocarditis, Leuk... |
ORPHA:292 |
Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Muscular edema, Myositis |
ORPHA:3165 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... |
OMIM:162000 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... |
OMIM:614328 |
Juvenile Dermatomyositis |
|
Calcinosis, Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Bundle branch block, ... |
ORPHA:93672 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis |
ORPHA:231 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Endocardial fibrosis, Myeloproliferative diso... |
OMIM:607685 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... |
ORPHA:85414 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... |
ORPHA:228123 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Eczema, Decreased circulating antibody level |
OMIM:300988 |
Myasthenia Gravis |
|
Myositis, Raynaud phenomenon, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specif... |
ORPHA:589 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Myositis, Renal insufficiency, Recurrent myo... |
ORPHA:99845 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... |
ORPHA:2494 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, D... |
OMIM:614582 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers... |
OMIM:615862 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage,... |
OMIM:243700 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Autoimmunity, Increased circulating IgG4... |
ORPHA:449400 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia |
ORPHA:26137 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Babesiosis |
|
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Myocardial infarction, Splenomegaly, Congest... |
ORPHA:108 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
Netherton Syndrome |
|
Sparse scalp hair, Villous atrophy, Brittle hair, Recurrent skin infections, Allergic rhinitis, E... |
OMIM:256500 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Fasciitis, Myositis, Dupuytren contracture, Maculopapular exanthema, Pne... |
ORPHA:39812 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Splenom... |
ORPHA:3452 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Cardiac shunt |
OMIM:305800 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Felty Syndrome |
|
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... |
ORPHA:47612 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Recurrent pharyngitis, Leukocytosis, Vasc... |
ORPHA:32960 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ... |
OMIM:231530 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Eczema, Proteinuria, Minimal change glome... |
OMIM:618348 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri... |
ORPHA:100093 |
Aquagenic Palmoplantar Keratoderma |
|
Palmar pruritus, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Syst... |
ORPHA:498359 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, Decreased circulating total IgM, Vomit... |
OMIM:619510 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Autoimmune hemolytic anemia, Flexion contracture, Panniculitis |
OMIM:619183 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... |
OMIM:619802 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hepatic steatosis, Glomerulopathy, Dysmenorrhea, Splenomegaly, Congestive heart fai... |
ORPHA:2348 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Nephropathy, Vasc... |
ORPHA:342 |
Subacute Cutaneous Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Psoriasiform lesion, Anti-histo... |
ORPHA:163525 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, High palate, Glomerulonephritis |
ORPHA:2172 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Glomerulopathy, Ureteral st... |
ORPHA:900 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, ... |
OMIM:618394 |
Netherton Syndrome |
|
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Malabsorption, Ectopic kidney, Sparse eye... |
ORPHA:634 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Normocytic anemia, Cryoglobulinem... |
ORPHA:33226 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, ... |
OMIM:613179 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Lymphopenia, Recurrent respiratory infections, Ventricular septal defect, Recurrent... |
OMIM:620210 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... |
ORPHA:3243 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Vasculitis, Chronic diarr... |
OMIM:617099 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... |
OMIM:617388 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe... |
ORPHA:340 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, ... |
OMIM:617638 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... |
ORPHA:411593 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Pruritus, Increased circulating IgE level, Nail dystrophy, Erythroderma |
OMIM:270300 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Pityriasis Rubra Pilaris |
|
Pustule, Pruritus, Eczema, Erythroderma |
ORPHA:2897 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurrent pneumonia, Vascul... |
OMIM:617718 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rhe... |
OMIM:615816 |
Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Abnormal nasopharyngeal adenoi... |
ORPHA:3392 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Pulmona... |
ORPHA:70578 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Nephrotic syndrome |
ORPHA:2575 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ... |
OMIM:619386 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Dysmenorrhea, Splenomegaly, Congestive heart failure, Prominent ... |
ORPHA:79083 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Chronic diarr... |
OMIM:618805 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Dicarboxylic aciduria, ... |
OMIM:201475 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Aut... |
OMIM:614470 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Nep... |
OMIM:618999 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Vasculitis, Ab... |
ORPHA:50918 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Nephr... |
OMIM:269920 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Patchy ... |
ORPHA:346 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno... |
OMIM:602450 |
Relapsing Polychondritis |
|
Uveitis, Large vessel vasculitis, Anteriorly placed anus, Conjunctivitis, Chondritis, Glomerulopa... |
ORPHA:728 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn... |
ORPHA:117 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis, Inc... |
OMIM:617591 |
Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Large vessel vasculitis,... |
ORPHA:49041 |
Systemic Lupus Erythematosus 17 |
|
Hypertensive crisis, Alopecia, Autoimmune thrombocytopenia, Raynaud phenomenon, Antinuclear antib... |
OMIM:301080 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Hypo... |
OMIM:616629 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Autoimmunity, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Recu... |
OMIM:616005 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am... |
OMIM:613313 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Kawasaki Disease |
|
Sterile pyuria, Conjunctivitis, Cholecystitis, Recurrent pharyngitis, Leukocytosis, Vasculitis, H... |
ORPHA:2331 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Nail dystrophy, Nephritis... |
OMIM:609057 |
Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Gastrointestinal inflammation, Unusual gastrointestinal infection, Ba... |
ORPHA:48435 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency... |
ORPHA:27 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Agammaglob... |
OMIM:300310 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem... |
OMIM:603165 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Sp... |
OMIM:225750 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... |
OMIM:618986 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Vomiting, Neutropen... |
ORPHA:73263 |
Systemic Lupus Erythematosus |
|
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phenomenon, Antinucle... |
ORPHA:536 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Decreased circulating complement C5 concentration, Reduced hemolytic comple... |
OMIM:609536 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ... |
OMIM:618459 |
Whim Syndrome |
|
Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenit... |
ORPHA:51636 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... |
ORPHA:3260 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing enteropa... |
OMIM:613502 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Acquired Ichthyosis |
|
Recurrent skin infections, Autoimmunity, Pruritus, Erythema, Dry skin |
ORPHA:454 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... |
OMIM:608106 |
Shigellosis |
|
Acute colitis, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Peritonitis, Rhab... |
ORPHA:810 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Alopecia totalis, Pyloric stenosis... |
OMIM:615577 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Abnormality of the musculature of the limbs |
ORPHA:3327 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Leukopenia, Macrovesicular hepatic steatosis, Neutropenia, Atrial septal de... |
OMIM:617303 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir... |
ORPHA:331206 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... |
ORPHA:911 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hypothyroidism, Hepatic steatos... |
OMIM:615846 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Anti-dsDNA antibody positivity, Hypothyroi... |
ORPHA:1855 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... |
ORPHA:343 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopeni... |
OMIM:613011 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Sinusitis, Pneumonia, Otitis media |
OMIM:312863 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Vomiting, Abnormality of the urinary system phys... |
ORPHA:2552 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Pruritus, Systemic lupus erythematosus, Increased circulating antibody lev... |
ORPHA:48377 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Scarring alopecia of scalp, Abnormal hair morphology |
ORPHA:222 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... |
ORPHA:63273 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ... |
OMIM:618969 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Erythroderma |
ORPHA:312 |
Immunodeficiency 22 |
|
Pericarditis, Autoimmunity, Diarrhea, Protracted diarrhea, Capillary leak, Decreased circulating ... |
OMIM:615758 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level |
OMIM:162700 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... |
ORPHA:79078 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... |
OMIM:618852 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Functional abnormality of the bladder, T lymphocytopenia,... |
ORPHA:391487 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Micropenis, Hypospadias, Erythroderma |
OMIM:618840 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Decreased lymphocy... |
OMIM:606367 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... |
ORPHA:567548 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Cardiome... |
ORPHA:228308 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... |
ORPHA:171 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, C... |
ORPHA:397 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, R... |
ORPHA:275 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Situs inversus totalis, Asplenia, Atelectasis, Bronchiectasis, Immot... |
OMIM:244400 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, ... |
OMIM:617765 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recur... |
OMIM:618282 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decrea... |
OMIM:619126 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... |
OMIM:615872 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Hemolytic anemia, ... |
OMIM:619487 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Apnea, Thrombocyto... |
OMIM:606054 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... |
ORPHA:90308 |
Listeriosis |
|
Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious encephalitis, Unusual sk... |
ORPHA:533 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Abno... |
ORPHA:2357 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Dry skin |
ORPHA:1954 |
Sarcoidosis |
|
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ... |
ORPHA:797 |
Cach Syndrome |
|
Premature ovarian insufficiency, Renal hypoplasia, Secondary amenorrhea, Hepatosplenomegaly, Prim... |
ORPHA:135 |
Yao Syndrome |
|
Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea,... |
OMIM:617321 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... |
OMIM:614817 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Renal tubular dysfunct... |
ORPHA:289916 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Skin rash, Maculopapular exanthema, Myocarditis, Fulminant hepatitis,... |
ORPHA:319213 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hepatomegaly |
OMIM:609016 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,... |
OMIM:619164 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Increased circulating IgG level, Leukope... |
ORPHA:99827 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... |
OMIM:235200 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Omenn Syndrome |
|
Alopecia, Pneumonia, Autoimmunity, Pruritus, Chronic diarrhea, Thyroiditis, Nephrotic syndrome, E... |
ORPHA:39041 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Hypertension, Coronary artery atherosclerosis, Pancreatitis |
ORPHA:79084 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
Juvenile Arthritis |
|
Antinuclear antibody positivity, Skin rash |
OMIM:618795 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... |
OMIM:301000 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... |
ORPHA:2414 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Dyspnea, Vacuo... |
ORPHA:565612 |
Bullous Pemphigoid |
|
Erythema, Psoriasiform dermatitis, Eczema, Autoimmunity |
ORPHA:703 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... |
ORPHA:860 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Linear Iga Dermatosis |
|
Renal neoplasm, Autoimmunity, Epistaxis, Pruritus, Inflammation of the large intestine |
ORPHA:46488 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Dry skin |
OMIM:146700 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Hyperhidrosis, Blo... |
ORPHA:90068 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... |
ORPHA:100024 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613736 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Neonatal respiratory distress, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:157 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... |
OMIM:614376 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... |
ORPHA:2041 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy, D-2-hydroxyglutaric aciduria |
OMIM:613657 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... |
OMIM:619705 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... |
OMIM:613493 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Pruritus, Antinuclear antibody positivity, Ant... |
ORPHA:562639 |
Erythema Elevatum Diutinum |
|
Skin rash, Vasculitis in the skin, Increased circulating antibody level |
ORPHA:90000 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Alopecia, Malabsorption, Iridocyclitis, Diarrhea, C... |
OMIM:240300 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
Colchicine Poisoning |
|
Renal insufficiency, Alopecia, Myocarditis, Diarrhea, Congestive heart failure, Hypovolemia, Olig... |
ORPHA:31824 |
Idiopathic Camptocormia |
|
Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... |
ORPHA:1320 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Congestive heart failure, Cryptorchidism, Endocardial fibroelastosis, Restri... |
ORPHA:2022 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis |
ORPHA:36237 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,... |
OMIM:610978 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapula... |
ORPHA:26791 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:306400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Apnea, Elevated circulati... |
OMIM:619048 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death |
ORPHA:764 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Immunodeficiency, Common Variable, 11 |
|
Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large intestine, Crohn's di... |
OMIM:615767 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Eosinophilopenia |
|
Allergic rhinitis, Autoimmunity |
OMIM:131430 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Bronchiectasis, Hepatiti... |
OMIM:619381 |
Congenital Ichthyosiform Erythroderma |
|
Keratitis, Alopecia, Pruritus, Erythroderma |
ORPHA:79394 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Alopecia of scalp, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Syndromic Diarrhea |
|
Aortic regurgitation, Atrial septal defect, Villous atrophy, Brittle hair, Gastritis, Hepatoblast... |
ORPHA:84064 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Extracranial Carotid Artery Aneurysm |
|
Autoimmunity, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total ... |
ORPHA:494424 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... |
OMIM:300635 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... |
OMIM:212050 |
Epidermolytic Hyperkeratosis 2 |
|
Erythroderma |
OMIM:620150 |
Pediatric-Onset Graves Disease |
|
Anti-thyroid peroxidase antibody positivity, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, I... |
ORPHA:525731 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... |
OMIM:615508 |
Gitelman Syndrome |
|
Respiratory distress, Urinary incontinence, Decreased urinary potassium, Hyperhidrosis, Tubuloint... |
ORPHA:358 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctiviti... |
OMIM:612692 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Flexion contracture, Recurrent skin infections, Nail dystrophy |
ORPHA:79503 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin, Eczema, Kera... |
ORPHA:330058 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Dilated cardiom... |
OMIM:615895 |
Sézary Syndrome |
|
Skeletal muscle atrophy, Alopecia, Abnormal immunoglobulin level, Pruritus, Nail dystrophy, Eryth... |
ORPHA:3162 |
Immunodeficiency 15A |
|
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... |
OMIM:618204 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Intestinal perforation, Secretory diar... |
ORPHA:544482 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
Congenital Pancreatic Cyst |
|
Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduri... |
ORPHA:71212 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess... |
OMIM:301074 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture |
OMIM:608540 |
Primary Erythromelalgia |
|
Recurrent respiratory infections, Leukemia, Vasculitis |
ORPHA:90026 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... |
OMIM:308230 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Abn... |
ORPHA:228119 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Pulmonary infiltrates, Histiocytosis |
OMIM:235900 |
Erythroderma Desquamativum |
|
Diarrhea, Seborrheic dermatitis |
ORPHA:314 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb... |
OMIM:102700 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria |
OMIM:616901 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Lymphatic Filariasis |
|
Circulating immune complexes, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Cough... |
ORPHA:2035 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... |
OMIM:618278 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog... |
ORPHA:449427 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Panhypogammaglobulinemia |
OMIM:615214 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Vomiting, Cough... |
ORPHA:454836 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic st... |
OMIM:614480 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Atrial septal defect, Aortic v... |
ORPHA:459061 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Atelectasis... |
ORPHA:70588 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Chronic constipation, Nephrot... |
OMIM:619428 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Vasculitis, Skin rash |
ORPHA:889 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Ileal ulcer, Lupus anticoa... |
OMIM:616744 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Skin ulcer |
ORPHA:409 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrot... |
OMIM:105200 |
Farber Disease |
|
Respiratory distress, Elevated hepatic transaminase, CNS foam cells, Intrahepatic cholestasis wit... |
ORPHA:333 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Gastritis, Facial palsy, Atrial f... |
ORPHA:31826 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... |
ORPHA:93476 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Ane... |
OMIM:615285 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hemo... |
ORPHA:398124 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis |
OMIM:278300 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Lamellar Ichthyosis |
|
Renal insufficiency, Pruritus, Sparse hair, Erythroderma, Chronic otitis media, Aplasia/Hypoplasi... |
ORPHA:313 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Autoimmunity, Splenomegaly, Con... |
ORPHA:90033 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Acute Lung Injury |
|
Shock, Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentratio... |
ORPHA:178320 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Myocardial infarction, Abnormality of neutrophils, Abnormality of the uret... |
ORPHA:36426 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl... |
ORPHA:87503 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Dry skin |
ORPHA:2584 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli... |
OMIM:617241 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Abnormal lung morphology, Recurrent pneumonia, Tachypn... |
ORPHA:60032 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... |
OMIM:610198 |
Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce... |
OMIM:170100 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Male infertility, ... |
OMIM:219700 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Hypertension, ... |
OMIM:616069 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Paten... |
ORPHA:33001 |
Porphyria Cutanea Tarda, Type I |
|
Hypertrichosis, Eczema, Porphyrinuria |
OMIM:176090 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Nephritis |
OMIM:274240 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Constip... |
ORPHA:225 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Reduced na... |
ORPHA:540 |
Epidermodysplasia Verruciformis |
|
Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Ulerythema Ophryogenesis |
|
Dry skin, Acne, Contact dermatitis, Facial erythema |
ORPHA:3406 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy... |
OMIM:301078 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, In... |
ORPHA:2314 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... |
OMIM:115197 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... |
OMIM:618987 |
Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Hepatomegaly, Hepatic steatosis, Abnormal atrioventricular conductio... |
ORPHA:280365 |
Marburg Hemorrhagic Fever |
|
Nonproductive cough, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morpholo... |
ORPHA:99826 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Testicular atrophy, Portal hyper... |
ORPHA:465508 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Chronic di... |
OMIM:619281 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis, Respiratory insufficiency, Dysphagia |
OMIM:618230 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Myocardial infarction, Congestive heart failu... |
ORPHA:132 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eczema, Eosinophilia, Recurrent pneu... |
ORPHA:353298 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Ichthyosis With Confetti |
|
Pruritus, Hypoplastic nipples, Hypertrichosis, Erythroderma |
OMIM:609165 |
Sjogren Syndrome |
|
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... |
OMIM:270150 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Flexion contracture, Macr... |
ORPHA:258 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Keratitis, Chronic diarrhea, Increased circulating IgE level, Bronchiectasis, Macroglossi... |
OMIM:618523 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Nail dystrophy, Erythroderma, Sparse hair |
OMIM:242300 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory i... |
OMIM:618886 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Skin rash |
OMIM:124950 |
Congenital Gerbode Defect |
|
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... |
ORPHA:99095 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Neonatal respiratory distress, Renal hypopla... |
OMIM:617595 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Myocarditis, Py... |
ORPHA:3342 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Cough, Dyspnea, Diarrhe... |
ORPHA:319218 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pu... |
OMIM:613490 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abnormal peri... |
ORPHA:67 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Telangiectasia of the skin, Autoimmunity, Myocardial infarc... |
ORPHA:221 |
Cardiomyopathy, Dilated, 1B |
|
Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra... |
OMIM:600884 |
Dermatitis Herpetiformis |
|
Eczema, Autoimmunity, Pruritus, Erythema, Skin vesicle |
ORPHA:1656 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hy... |
ORPHA:1345 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My... |
ORPHA:892 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... |
OMIM:615482 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt... |
OMIM:601457 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Diffuse reticular or finely nodular infiltrations, Cough, Neu... |
ORPHA:1163 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Eczema, Systemic lupus erythematosus |
OMIM:616871 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Leukopenia, Conjunctivitis, Atrial septal defect, Decreased circulating IgG... |
ORPHA:505248 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit... |
ORPHA:90368 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... |
OMIM:150550 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased inflammatory response,... |
ORPHA:158061 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Celiac disease, N... |
OMIM:615952 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive |
OMIM:230350 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr... |
OMIM:212140 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Atopic dermatiti... |
OMIM:619752 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Autoimmunity, Cholangitis, Increased circulating IgG4 level, Eosinophilia, R... |
ORPHA:449432 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Abnormality of the kidney, Conges... |
ORPHA:1194 |
Muscle Filaminopathy |
|
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... |
ORPHA:171445 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertension, Coronary artery athe... |
OMIM:608600 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Hyperhidr... |
ORPHA:1329 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Recurrent skin infections, Decreased circulating antibody level, Atrial se... |
OMIM:617744 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis |
OMIM:620137 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Bowel incont... |
ORPHA:330001 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjunctiviti... |
OMIM:603552 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, C... |
OMIM:242700 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Diarrhea, Increased urinary porphobilinogen, H... |
OMIM:121300 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Torticollis, Pyelonephritis, Nephritis, Renal dysplasia |
OMIM:314300 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... |
ORPHA:572 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Pyoderma gangrenosum, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Autoimmune hemolytic anemia, Abno... |
OMIM:619573 |
Hepatoportal Sclerosis |
|
Portal vein thrombosis, Leukopenia, Portal hypertension, Intrahepatic portal vein sclerosis, Smoo... |
ORPHA:64743 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of ... |
ORPHA:567 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Seborrheic dermatitis |
OMIM:121270 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Oligozoospermia, Hypertension, Azoospermia, Infe... |
OMIM:615703 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-m... |
OMIM:607616 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Vasculitis, Arthritis, Inflammation of t... |
ORPHA:324964 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthritis, Wrist flexion contracture, Constrictive pericarditis, Congenital finger flexion contra... |
OMIM:208250 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Eczema, Congestive heart failure, Dysphagia, Pulmonary arterial hypertensio... |
OMIM:619751 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand, Pruritis on b... |
ORPHA:64745 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Recurrent pneumonia, Increased circulating IgE level, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Anti-acetylcholine receptor antibody positivity, Right bundle branch block, Pulmonar... |
ORPHA:254361 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas... |
ORPHA:217390 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Myop... |
OMIM:610717 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmunity, Spleno... |
OMIM:615387 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Nausea, Splenomegaly, Thrombocytopenia, Diarrhea, Stage 5 chronic kidney disease, R... |
OMIM:222700 |
Congenital Myopathy 8 |
|
Congestive heart failure, Reduced vital capacity, Respiratory insufficiency, Cardiomegaly |
OMIM:618654 |
Ameloonychohypohidrotic Syndrome |
|
Dry skin, Seborrheic dermatitis |
OMIM:104570 |
Alport Syndrome |
|
Mesangial hypercellularity, Vomiting, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depos... |
ORPHA:63 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Nephro... |
ORPHA:182050 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level |
OMIM:193670 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Pruritu... |
OMIM:620010 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly,... |
ORPHA:79301 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Congestiv... |
ORPHA:367 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased pr... |
OMIM:619652 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil coun... |
ORPHA:3226 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, E... |
OMIM:614034 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Oligosaccharidur... |
ORPHA:365 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pyloric stenosis, Atopic dermatitis, Pulmonic stenosis, Camptodactyly,... |
OMIM:614262 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
Al Amyloidosis |
|
Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormality of the liver, Hepatomegaly, Abn... |
ORPHA:85443 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Decreased circulating total Ig... |
OMIM:619774 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy, Malar rash, Gastroesophageal reflux |
OMIM:618097 |
Absence Of The Pulmonary Artery |
|
Abnormal pulmonary thoracic imaging finding, Abnormal coronary artery morphology, Cardiomegaly, N... |
ORPHA:980 |
Brachydactylous Dwarfism, Mseleni Type |
|
Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth... |
ORPHA:2619 |
Chylous Ascites |
|
Ascites, Pancreatitis |
ORPHA:1160 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Respiratory distress, Renal insufficiency, Recurrent respiratory inf... |
ORPHA:537 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Peripheral pulmonary artery stenosis, Atelectasis, Recurrent pneumonia, Hypopla... |
OMIM:613177 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Splenomegaly, Osteoarthritis, Hype... |
ORPHA:77259 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxy... |
ORPHA:49827 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormal heart valve morphology, Heparan sulfate excretion in urine, Splenomegaly, ... |
OMIM:309900 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus, Pallor |
ORPHA:90036 |
Hsd10 Disease, Neonatal Type |
|
Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyopathy, Abnormality of... |
ORPHA:391457 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... |
OMIM:612877 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Skin rash, Reduced natural ki... |
OMIM:619374 |
Buerger Disease |
|
Vasculitis, Hyperhidrosis |
ORPHA:36258 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Chronic diarrhea, Flexion con... |
OMIM:601675 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... |
OMIM:612387 |
Non-Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141179 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Eczema |
ORPHA:3055 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Acholic stools, Cholestatic liver dise... |
ORPHA:65682 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Organic aciduria, Supraventricula... |
OMIM:255100 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness |
ORPHA:320360 |
Mycosis Fungoides |
|
Pruritus, Erythema, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Decreased circulating antibody... |
OMIM:614069 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Sterile pyuria, Renal interstitial edema, Tubulointerstitial nephritis, Aminoa... |
ORPHA:91500 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa... |
OMIM:605258 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Apnea, Cardiac arrest... |
ORPHA:20 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Osteomyelitis, Skin ulcer |
ORPHA:2218 |
Bathing Suit Ichthyosis |
|
Alopecia, Multiple joint contractures, Nail dystrophy, Erythroderma, Sparse hair |
ORPHA:100976 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri... |
ORPHA:57777 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Dilated cardiomyopathy, Anemia, Panniculitis, ... |
OMIM:608068 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
White scaling skin, Erythroderma |
OMIM:604777 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Stroke-like episode, Abnormal heart morphology, Respiratory failure, Ga... |
ORPHA:70472 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Mulibrey Nanism |
|
Hepatomegaly, Nephroblastoma, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Perica... |
OMIM:253250 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Diar... |
OMIM:249100 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Recurrent respiratory infections, Renal neop... |
ORPHA:538 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Keratitis, Orchitis, Anti... |
ORPHA:449563 |
Rapidly Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141184 |
Generalized Pustular Psoriasis |
|
Renal insufficiency, Pustule, Congestive heart failure, Cheilitis, Uveitis, Arthritis, Palmoplant... |
ORPHA:247353 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Cardiomegaly, Microcytic anemia, Increased cir... |
OMIM:256040 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Proteinuria, Autoimmunity, Abnormality of complement system, Ab... |
ORPHA:79086 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Myocardial infarction, Methioninuria, Mitral valve prolapse, Stroke, Homocysti... |
OMIM:236200 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa... |
OMIM:127550 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Autoimmunity, Cardiomegaly, Raynaud phenomenon... |
ORPHA:51 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Lef... |
ORPHA:75249 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:139406 |
Pemphigus Erythematosus |
|
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... |
ORPHA:79124 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... |
OMIM:619566 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Autoimmunity, De... |
ORPHA:83471 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronch... |
OMIM:613807 |
Inclusion Body Myositis |
|
Autoimmunity, Elevated circulating creatine kinase concentration |
ORPHA:611 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:613752 |
Diffuse Alveolar Hemorrhage |
|
Rheumatoid factor positive, Cough, Decreased circulating complement C4 concentration, Irregular s... |
ORPHA:90060 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Secretory diarrhea, Seborrheic dermatitis |
OMIM:614441 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Eczema, Facial myokymia |
OMIM:620007 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Cednik Syndrome |
|
Proteinuria, Congestive heart failure, Nephrotic syndrome, Hypogonadism, Stroke |
ORPHA:66631 |
Mahvash Disease |
|
Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increa... |
ORPHA:98848 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increase... |
ORPHA:2298 |
Blau Syndrome |
|
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Re... |
ORPHA:90340 |
Scorpion Envenomation |
|
Bundle branch block, Acute pancreatitis, Ketonuria, Tachycardia, Cardiac conduction abnormality, ... |
ORPHA:466677 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Seborrheic dermatitis, Uveitis, Ab... |
ORPHA:488618 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Right ventricular dilatation, Abnormal left ventricular functi... |
ORPHA:70591 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Diarrhea, Vasculitis, Skin rash |
OMIM:601979 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Diarrhea, Lymphadenopathy, A... |
ORPHA:858 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer |
OMIM:604571 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Scaling skin, Erythroderma |
OMIM:612281 |
Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin, Erythema, Scaling skin |
ORPHA:90158 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Thromboc... |
ORPHA:508542 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Autoimmunity, Congestive heart fail... |
ORPHA:220393 |
Goodpasture Syndrome |
|
Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Anti-glomerular basement membrane-... |
OMIM:233450 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Lymphoid Interstitial Pneumonia |
|
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Medi... |
ORPHA:79128 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis |
ORPHA:279914 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Dilated ca... |
OMIM:230500 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Peeling Skin Syndrome 6 |
|
Pruritus, Scaling skin, Dry skin, Atopic dermatitis |
OMIM:618084 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... |
ORPHA:2968 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Localized Scleroderma |
|
Fasciitis, Autoimmunity, Abnormality of the kidney, Raynaud phenomenon, Vasculitis, Abnormality o... |
ORPHA:90289 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Acne, Cleft palate, Abnormal aortic valve morphology |
ORPHA:577 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarcti... |
OMIM:603903 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... |
OMIM:618234 |
Myopathy, Myofibrillar, 2 |
|
Antinuclear antibody positivity, Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeleta... |
OMIM:608810 |
Digeorge Syndrome |
|
Impaired T cell function, Abnormal thymus morphology, Hypoplasia of the thymus, Gastroesophageal ... |
OMIM:188400 |
Methylmalonic Acidemia With Homocystinuria |
|
Skin rash |
ORPHA:26 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Stroke-like episode, Abnormal left vent... |
OMIM:540000 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Reduced natural killer cell activity, Diffuse alveolar hemorrhage, Splen... |
OMIM:616050 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Cryptorchidism, Abnormality of the lymphatic system, Pulmonic stenosis, ... |
ORPHA:638 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Impaired T ... |
OMIM:614576 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, Paraproteinemia, Di... |
ORPHA:171442 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive |
ORPHA:172 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepa... |
OMIM:232500 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperphosphaturia, Pancytopenia, Hyperthyroidism, Macroorchidism... |
ORPHA:562 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia |
OMIM:606069 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... |
OMIM:300696 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Hirsutism |
OMIM:604931 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neona... |
OMIM:214900 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Dysphagia,... |
ORPHA:488627 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eczema, Eosinophilia, Sple... |
OMIM:616651 |
Distal Myotilinopathy |
|
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... |
ORPHA:98911 |
Acral Peeling Skin Syndrome |
|
Scaling skin, Erythema, Eczema, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Cogan Syndrome |
|
Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va... |
ORPHA:1467 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent... |
OMIM:252920 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Autoimmunity, Myopathy, Decreased circulating complement C3 concentr... |
ORPHA:79087 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Eczema, Long eyelashes, Thick eyebrow, Hypertrichosis |
OMIM:618362 |
Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Harlequin Ichthyosis |
|
Sudden cardiac death, Erythroderma |
ORPHA:457 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Secundum atrial septal defect, Recurrent ... |
OMIM:614868 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatic ste... |
ORPHA:79259 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypothyroidis... |
ORPHA:90065 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ... |
OMIM:137940 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Elevated urinary prostaglandin E2 level, Acne, Secretory diarrhea, Seborrheic dermatitis |
OMIM:167100 |
Rheumatoid Arthritis |
|
Anti-citrullinated protein antibody positivity, Vasculitis, Rheumatoid factor positive, Rheumatoi... |
OMIM:180300 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Autoimmunit... |
ORPHA:47 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Cough, Sple... |
ORPHA:77260 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... |
OMIM:620236 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... |
ORPHA:399086 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia, Organic aciduria, Hepatomegaly |
ORPHA:35 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine,... |
ORPHA:26792 |
African Trypanosomiasis |
|
Urinary incontinence, Conjunctivitis, Iritis, Abnormal EKG, Hepatomegaly, Hepatosplenomegaly, Lym... |
ORPHA:3385 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Eczema, Autoimmunity, Recurrent pneumonia, Decreased circulating antibody level, Vomiting, Septic... |
OMIM:617780 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:206546 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Pruritus, Diarrhea, Vomiting, Hypotension, Erythroderma |
ORPHA:79456 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Left ventricular ... |
OMIM:242840 |
Reticular Dysgenesis |
|
Skin rash, Malabsorption, Diarrhea, Decreased circulating antibody level, Chronic otitis media |
ORPHA:33355 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Renal cyst, Vomiting, Cough, Abnormal pericardium morphology, Portal ... |
ORPHA:284 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Autoimmunity |
ORPHA:163703 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Abnormality of the kidney, Raynaud pheno... |
ORPHA:767 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating lutein... |
OMIM:617253 |
Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Abnormality of the ... |
ORPHA:579 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Anuria, Vomiting, Nausea, Internal hemorrhage,... |
ORPHA:99829 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Pruritus, Lymphadenopathy |
ORPHA:86893 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Apla... |
ORPHA:129 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Cough, Bronch... |
OMIM:612444 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Abnormal pulmonary valve cusp morphology, Right... |
ORPHA:97287 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma |
OMIM:615023 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Organic aciduria, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Mitr... |
ORPHA:2848 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Achalasia,... |
ORPHA:324 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... |
ORPHA:100026 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ... |
OMIM:619658 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiomyopathy, Myopathy, D... |
OMIM:232400 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... |
OMIM:302060 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate amin... |
OMIM:256810 |
Tetrasomy 9P |
|
Renal dysplasia, Myositis, Pericarditis, Recurrent urinary tract infections, Dextrocardia, Raynau... |
ORPHA:3310 |
Congenital Disorder Of Glycosylation, Type If |
|
Flexion contracture, Renal cortical cysts, Erythroderma |
OMIM:609180 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ... |
ORPHA:185 |
Igg4-Related Thyroid Disease |
|
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... |
ORPHA:64744 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Hypogonadism, Oligomenorrhea, Infertility, Dysphagia, Delayed menarche, Hypothyroi... |
ORPHA:412057 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Pu... |
OMIM:619433 |
Elastosis Perforans Serpiginosa |
|
Crusting erythematous dermatitis |
ORPHA:79148 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... |
OMIM:616433 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ... |
ORPHA:449280 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Diarrhea, Atrioventricular block, Cardiomyopathy, Impotence, Constipation, Nephropa... |
ORPHA:85447 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Skin rash, Camptodactyly of finger |
ORPHA:1658 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Myocardial infarction, Thrombocytopenia, Peritonitis, Leukocytosis, Schi... |
ORPHA:90038 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Congestive heart failu... |
ORPHA:354 |
Melas |
|
Wolff-Parkinson-White syndrome, Hypoparathyroidism, Proteinuria, Hypogonadotropic hypogonadism, C... |
ORPHA:550 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Atrial septal defect, Microp... |
OMIM:602782 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage... |
ORPHA:284227 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Nephrolithiasis, Papillary renal cell carcinoma, ... |
OMIM:145001 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis, Premature coronary art... |
OMIM:615947 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... |
ORPHA:859 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Autoimmunity, Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infect... |
ORPHA:1303 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Nephrolithias... |
OMIM:232200 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... |
ORPHA:33110 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... |
ORPHA:99104 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Chronic diarrhea, Chronic decreased cirulating IgG2, Abnorma... |
OMIM:615607 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... |
ORPHA:99106 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Atelectasis, Ren... |
OMIM:269860 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos... |
OMIM:260920 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypne... |
ORPHA:36238 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Reduced sperm motility, Recurrent pneumonia, Restrictive ventilatory defect |
OMIM:602271 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Neonatal Alloimmune Neutropenia |
|
Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Pneumon... |
ORPHA:464370 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Skin rash, Splenomegaly, Patent ductus arteriosus, Throm... |
ORPHA:290 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Recurrent respiratory infections, Bicuspid aortic valve, Malformation of the hepati... |
OMIM:218330 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Vomiting, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membranopr... |
OMIM:619525 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... |
ORPHA:567546 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Glomerulopa... |
ORPHA:77297 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Wells Syndrome |
|
Vasculitis, Eosinophilia |
ORPHA:901 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis |
ORPHA:111 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Conjunctivitis, Erythroderma |
OMIM:242150 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha... |
ORPHA:42642 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Abnormal pericardium morphology, Hypogona... |
ORPHA:35687 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroi... |
OMIM:601005 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Autoimmunity, Large for gestational age, Increased circulating free fatty acid level, Enlarged to... |
ORPHA:293964 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hema... |
ORPHA:251004 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Atrial septal defect, Decreased circulating Ig... |
OMIM:620005 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Immunoglobulin A Deficiency 1 |
|
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... |
OMIM:137100 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial pals... |
OMIM:619424 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cardiomyopathy, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, An... |
OMIM:604250 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Skin ulcer |
ORPHA:542592 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, H... |
OMIM:612541 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level, Episodic vomiting |
OMIM:618973 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Diarrhea, Organic aciduria... |
OMIM:253260 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepa... |
OMIM:181000 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Abnormality of the kid... |
ORPHA:391641 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Renal cyst, Hepatic fibrosis, Vomiting, Decreased circulating IgG level, Hepatic steatosis, Hypot... |
OMIM:212065 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... |
ORPHA:35173 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Decreased circulating IgG1 level, Intestinal lymphedema, Increased stool ... |
ORPHA:90363 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... |
ORPHA:774 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Carnosinuria, Cardiomyopathy |
OMIM:309930 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Congestive heart failure, Microvesicular he... |
OMIM:611126 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... |
OMIM:612098 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Anhidrosis, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopath... |
ORPHA:169090 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Portal fibrosis, Hepatic fibrosis, Cirr... |
ORPHA:369 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle... |
OMIM:607944 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Di... |
ORPHA:99745 |
Limited Cutaneous Systemic Sclerosis |
|
Autoimmunity, Skin ulcer |
ORPHA:220402 |
Glutathionuria |
|
Urinary incontinence, Constipation, Eczema, Glutathionuria |
OMIM:231950 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Amyloidosis, Finnish Type |
|
Renal insufficiency, Abnormal abdomen morphology, Cardiomyopathy, Nephrotic syndrome, Cardiac amy... |
OMIM:105120 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Copper accumu... |
OMIM:616828 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Eczema |
OMIM:620393 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Exercise-induced rhabdomyolysis, Superficial dermal... |
ORPHA:284426 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:608779 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Melioidosis |
|
Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Respiratory tra... |
ORPHA:31202 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Hyperhidrosis,... |
ORPHA:391 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Furrowed tongue, Coarse hair, Sparse hair, Pili ... |
OMIM:301845 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... |
ORPHA:86812 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega... |
OMIM:619849 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho... |
OMIM:124000 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... |
OMIM:618398 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... |
OMIM:615512 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... |
ORPHA:363705 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... |
OMIM:617336 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
Angiostrongyliasis |
|
Projectile vomiting, Increased circulating IgA level, Pruritus, Gastrointestinal eosinophilia, In... |
ORPHA:74 |
Atransferrinemia |
|
Congestive heart failure, Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis |
OMIM:238600 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia |
ORPHA:295 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... |
OMIM:616636 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... |
OMIM:618213 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis... |
ORPHA:90062 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Aminoaciduria, Hepatomegaly |
ORPHA:417 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Fatal liver failure in infancy, Renal insufficiency |
ORPHA:254857 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death... |
ORPHA:99901 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Cirrh... |
OMIM:178500 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Sparse hair, Blephariti... |
OMIM:618535 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... |
OMIM:269700 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Vasculitis, Lymphocytic, Nodular |
|
Nodular inflammatory vasculitis |
OMIM:192310 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regene... |
ORPHA:247691 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Anemia |
OMIM:236750 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Abnormal hair morphology, Long penis, Acne |
ORPHA:3000 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti... |
ORPHA:97244 |
Adiposis Dolorosa |
|
Recurrent skin infections, Telangiectasia of the skin, Autoimmunity, Sparse axillary hair, Sparse... |
ORPHA:36397 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... |
OMIM:616860 |
Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade... |
OMIM:609981 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne, Hirsutism |
OMIM:612847 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Diarrhea, Enuresis, Hepatic fibrosis, Vomiting, Hepa... |
ORPHA:247585 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Vomiting, Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotran... |
OMIM:614921 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Respiratory failure |
OMIM:616794 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... |
OMIM:186580 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Pruritus, Arthritis, Increased circulating IgM level, Conjunc... |
ORPHA:448237 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Arthritis, Dysphagia, Arrhythmia |
ORPHA:85446 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level, Anal atresia, Erythroderma |
OMIM:617425 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa... |
OMIM:232240 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest... |
OMIM:615415 |
Van Den Bosch Syndrome |
|
Scapular winging, Recurrent skin infections |
ORPHA:3417 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Oligomenorrhea |
ORPHA:435651 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Hypospadias, Absence of the pulmonary valve, Ventricular septal... |
OMIM:601808 |
Rift Valley Fever |
|
Skin rash, Hematemesis, Hepatitis, Uveitis, Retinal hemorrhage, Melena, Increased circulating IgG... |
ORPHA:319251 |
Aapoaiv Amyloidosis |
|
Abnormal lung morphology, Paraproteinemia, Left bundle branch block, Sinus bradycardia, Chronic p... |
ORPHA:439232 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Sp... |
ORPHA:158057 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Immunodeficiency 12 |
|
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Esophageal stricture, Chei... |
OMIM:615468 |
Moyamoya Disease 1 |
|
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Elevated urinary norepinephrine level, Nausea, Congestive heart failure, Epi... |
ORPHA:94080 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Ragged-red muscle fibers, Gene... |
OMIM:613561 |
Blue Rubber Bleb Nevus |
|
Volvulus, Intestinal bleeding, Skin rash, Gastrointestinal infarctions |
ORPHA:1059 |
Cutaneous Collagenous Vasculopathy |
|
Pruritus, Erythema, Skin rash, Petechiae |
ORPHA:280779 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... |
OMIM:615352 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Eczema, Decreased circulating antibody level |
OMIM:618116 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Eczema |
OMIM:619157 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B... |
OMIM:617394 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Acute kidney ... |
ORPHA:542323 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic b... |
OMIM:616719 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Alopecia, Sparse eyelashes, Sparse eyebrow, Joint contracture, Erysipelas |
OMIM:615704 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Elevat... |
OMIM:257200 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Pancreatitis, Vomiting |
OMIM:248600 |
Mogs-Cdg |
|
Decreased circulating IgG level, Hepatomegaly, Respiratory distress, Hypoventilation, Apnea, Pulm... |
ORPHA:79330 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric... |
ORPHA:34217 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal abscess, Jaundice, H... |
ORPHA:444490 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Vomiting... |
ORPHA:31204 |
Bloom Syndrome |
|
Bronchitis, Uveitis, Gastroesophageal reflux, Otitis media, Decreased circulating IgG level, Decr... |
ORPHA:125 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... |
OMIM:615518 |
Nail-Patella Syndrome |
|
Biceps aplasia, Renal insufficiency, Proteinuria, Glomerulonephritis, Absence of pectoralis minor... |
OMIM:161200 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Gastrointestinal hemorrhage, Renal insufficiency, Glomerulopathy, Proteinuria, Skin... |
ORPHA:761 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ... |
OMIM:608594 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction |
OMIM:606842 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Angina pectoris, Type IV atheroscl... |
ORPHA:412 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema, Impaired ADP-induced platelet aggregation, Impaired pl... |
OMIM:617443 |
Overlap Myositis |
|
Elevated hepatic transaminase, Autoimmunity, Abnormality of the kidney, Antinuclear antibody posi... |
ORPHA:206572 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... |
ORPHA:171433 |
Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Pelvic mass, Jaundice, Ascites, Pancreatitis, Anemia |
ORPHA:370348 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abnormal renal physiology |
OMIM:266500 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Foot joint contracture, Glome... |
ORPHA:79408 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Alopecia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aci... |
OMIM:210210 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pulmonary infiltrates, Sea-blue histiocy... |
ORPHA:158029 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Congestive heart failure, Recurrent pneumonia, Leukopenia, Prolonged prothr... |
OMIM:616271 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Right ventricular dilatation, Increa... |
OMIM:619472 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Grubben-De Cock-Borghgraef Syndrome |
|
Eczema |
ORPHA:2101 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea... |
OMIM:618268 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Pericardial effusion, Chronic diarrhea, Decreased circulating a... |
ORPHA:90362 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Hepatomegaly, Recurrent pneumonia |
OMIM:615637 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... |
OMIM:232300 |
Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Chilblains, Increased circulating interferon-gamma concentration |
OMIM:612952 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Antineutrophil antibody positivity, Increased circulating IgM leve... |
ORPHA:2688 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy |
OMIM:620270 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformat... |
ORPHA:137667 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy |
ORPHA:1349 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Abnormal hair quantity, Osteomyelitis, Acne, Peptic ulcer, Abnormal ... |
ORPHA:2796 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Congestive heart failure, Cardiomyopathy, Urinary bladder sphincter dysfunction, Hepatic steatosi... |
ORPHA:52430 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria |
OMIM:614053 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Bronchitis, Enuresis nocturna, Otitis m... |
ORPHA:420741 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Portal hypertension, ... |
OMIM:613385 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... |
ORPHA:95430 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the kidney, Congestive heart failure, Spinal arteriovenous malformation, Arteriove... |
ORPHA:53721 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Atrial septal defect, Congestive heart failure |
ORPHA:500533 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Left bundle branch... |
OMIM:608758 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Thrombocytopenia, Leukocytosis, Increased circulating IgG level, L... |
ORPHA:297 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Chronic diarrhea, Hepa... |
OMIM:268800 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... |
OMIM:613812 |
Slc35A1-Cdg |
|
Respiratory distress, Prolonged bleeding time, Pneumonia, Giant platelets, Hypoxemia, Neutropenia... |
ORPHA:238459 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Diarrhea, Bronchiectasis, Increased circulating IgM level, T lymphocytopeni... |
OMIM:242860 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Autoimmunity, Elevated circulating creatini... |
ORPHA:275555 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification... |
OMIM:208000 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis, Tracheomalacia |
ORPHA:896 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Br... |
OMIM:620184 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia, Cardiomyopathy |
OMIM:619046 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Chronic pulmonary obstru... |
ORPHA:411703 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Abnormal left ventricular function, Aminoaciduria, Vom... |
OMIM:619991 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo... |
OMIM:616589 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Renal agenesis, Hypogonadotropic hypogonadism, Anomalous origin of left cor... |
ORPHA:2326 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Productive cough... |
ORPHA:60033 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft palate, Nail dystrophy, T... |
ORPHA:2890 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Hypertension, Increased circulating cortisol level, Pancreatitis |
OMIM:610475 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... |
ORPHA:555874 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Decreased circulating IgG level, Lymphopenia, Sinusitis, Female hypo... |
OMIM:208900 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... |
ORPHA:381 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Recurrent pneumonia, Oligosacchariduria, Gastroesophageal reflux, Constipation |
ORPHA:3137 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... |
OMIM:306955 |
Letterer-Siwe Disease |
|
Stomatitis, Pallor, Seborrheic dermatitis |
OMIM:246400 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, D... |
ORPHA:29207 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Colitis, Cardiomegaly |
ORPHA:88643 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hepatomegaly, Hemolytic anemia, Autoimmunity, Splenomegaly, Diarrhea, Lym... |
ORPHA:56425 |
Alg12-Cdg |
|
Gastroesophageal reflux, Micropenis, Patent foramen ovale, Hypospadias, Partial absence of specif... |
ORPHA:79324 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... |
OMIM:249270 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Proteinuria, Abnormal heart valve morphol... |
ORPHA:77261 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Cholangitis, Autoimmunity, Portal hypertension, Hypersplenis... |
ORPHA:228426 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Congestive heart failure |
OMIM:301021 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Eczema, Sparse body hair |
ORPHA:1810 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia |
ORPHA:871 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Vasc... |
ORPHA:793 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Scaling skin |
ORPHA:90156 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A... |
OMIM:607115 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Metrorrhagia, Epistaxis, Pericardial effusion, Splenomegaly, Thrombocytopeni... |
ORPHA:464329 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Elevated hepatic transaminase, Raynaud phe... |
OMIM:613471 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Pruritus, Iridocyclitis, Anti... |
ORPHA:85436 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym... |
ORPHA:543 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Dilation of Virchow-Robin spaces, Penile freckling, Splenomegaly, Decreased circula... |
OMIM:605309 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st... |
OMIM:307200 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Osteomyelitis, Acral ulceration |
OMIM:613115 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Myoglobinuria, Rhabdomyolys... |
ORPHA:228305 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Fluctuating hepatomegaly... |
OMIM:610377 |
Phenylketonuria |
|
Increased level of hippuric acid in urine, Fair hair, Elevated urinary phenylpyruvic acid level, ... |
OMIM:261600 |
Lichen Planopilaris |
|
Pruritus, Hepatitis, Skin ulcer |
ORPHA:525 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Asthma, Atrial septal defec... |
OMIM:619471 |
Central Precocious Puberty In Male |
|
Acne, Abnormality of secondary sexual hair |
ORPHA:649929 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... |
OMIM:115250 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
Reynolds Syndrome |
|
Skin rash, Telangiectasia of the skin, Pruritus, Abnormal gastric mucosa morphology, Xerostomia, ... |
ORPHA:779 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hy... |
ORPHA:91131 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Tachycardia, Nausea, Pancreatitis, Jaundice, Cholester... |
ORPHA:521219 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectas... |
OMIM:300219 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertrophic cardiomyopathy, Decreased liver function |
OMIM:246900 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... |
ORPHA:98909 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Th... |
OMIM:606003 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Micropenis, Bradycardia... |
OMIM:618815 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis |
OMIM:120100 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly, Throm... |
ORPHA:905 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Card... |
OMIM:212138 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Prolonged bleeding time, Reduced natural killer cel... |
OMIM:608233 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Abnormality of the urinary system, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Eczema, Increased urinary sulfite level, Fine hair, Decreased urinary sulfate, ... |
OMIM:272300 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema |
OMIM:300299 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Respiratory insufficiency, Arthritis, Cherry red ... |
OMIM:228000 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia,... |
ORPHA:169079 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Arteria lusoria, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal respiratory di... |
ORPHA:221139 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Facial palsy, Cheilitis, Lymphadenopathy, Oligosacchariduri... |
ORPHA:2483 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... |
OMIM:613155 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Increased uri... |
ORPHA:2394 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:324588 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Dyspnea, Ab... |
OMIM:230800 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Pneumonia, Decreased response to growth hormone stimulation test, Thrombocy... |
OMIM:603467 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Chronic kidney disease... |
ORPHA:94059 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M... |
ORPHA:254886 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Folliculitis, ... |
OMIM:612843 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Secundum atrial septal defect, Congestive heart failure, Patent du... |
OMIM:616866 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... |
ORPHA:308552 |
Intrahepatic Cholestasis Of Pregnancy |
|
Skin rash, Autoimmunity, Pruritus, Pruritus on foot, Abnormal circulating interleukin concentrati... |
ORPHA:69665 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Cardiomyopathy, Prolonged prothro... |
OMIM:616483 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti... |
ORPHA:319552 |
Spontaneous Periodic Hypothermia |
|
Diarrhea, Skin rash, Arrhythmia |
ORPHA:29822 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Orchitis, Urinary bladder ... |
ORPHA:556 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Hepatic st... |
OMIM:278000 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthritis, Eczematoid dermatitis, High palate, Seborrheic dermatitis |
OMIM:259100 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Autoimmunity,... |
ORPHA:542643 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Intrahepatic chole... |
OMIM:602347 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Orotic acid crystalluria, Impaired T cell function, Splenomegal... |
ORPHA:30 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia, Respiratory insufficiency |
ORPHA:157973 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity |
ORPHA:704 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
X-Linked Immunoneurologic Disorder |
|
Myopathy, Decreased circulating IgG2 level, Functional abnormality of the bladder |
ORPHA:2571 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Cholestasis, Respiratory i... |
ORPHA:746 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, R... |
ORPHA:160 |
Leigh Syndrome |
|
Ventricular septal defect, Eczema, Congestive heart failure, Lacticaciduria, Methylmalonic acidur... |
ORPHA:506 |
Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:868 |
Poems Syndrome |
|
Thrombocytosis, Pericardial effusion, Hypothyroidism, Respiratory insufficiency due to muscle wea... |
ORPHA:2905 |
Classic Multiminicore Myopathy |
|
Right ventricular failure, Intermittent episodes of respiratory insufficiency due to muscle weakn... |
ORPHA:324604 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a... |
ORPHA:1600 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Glycogen Storage Disease Ixb |
|
Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Erythema, Eczema |
OMIM:177000 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair, Hydronephrosis |
OMIM:302960 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent upper respiratory tra... |
OMIM:209920 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... |
OMIM:252011 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Recurrent urinary tr... |
ORPHA:90349 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hypertension, Cardiomyopath... |
OMIM:102200 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Angina pectoris, Lymphadenopathy |
ORPHA:79292 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Retrobulbar optic neuritis, Leukocytosis,... |
ORPHA:1451 |
Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Alopecia, Skin rash, Generalized hirsutism |
ORPHA:317 |
Nail-Patella Syndrome |
|
Decreased muscle mass, Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture o... |
ORPHA:2614 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa... |
ORPHA:2686 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly, Oligosacchariduria |
ORPHA:309288 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Thrombocytopenia... |
OMIM:617053 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Gastroes... |
ORPHA:534 |
Alström Syndrome |
|
Respiratory distress, Urinary incontinence, Decreased response to growth hormone stimulation test... |
ORPHA:64 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... |
ORPHA:2299 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Folliculitis, Dystrophic... |
OMIM:308800 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Sudden cardiac death, Renal... |
ORPHA:156 |
Leptospirosis |
|
Respiratory distress, First degree atrioventricular block, Uveitis, Cough, Hepatomegaly, Cellular... |
ORPHA:509 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Prominent superficial veins, Congestive heart failure, Oligomenorrhea, Cirrhosis, H... |
ORPHA:528 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a... |
OMIM:612954 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Inflammatory abnormality of the skin, Tachycardia, Ventricul... |
ORPHA:26793 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Primary hyperparathyroidis... |
OMIM:145981 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Villous atrophy, Malabsorption, Chronic diarrhea, Autoimmun... |
ORPHA:398063 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice |
ORPHA:676 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Recurrent bronchitis, Cardiomegaly, Splenomegaly, Congestive ... |
OMIM:252500 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Nausea, Congestive heart... |
ORPHA:276621 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy |
OMIM:606703 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Pruritus, Splenomegaly,... |
OMIM:211600 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate,... |
OMIM:617337 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened Q... |
ORPHA:99880 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent upper respira... |
OMIM:252900 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Autoimmunity, Nodular pattern ... |
ORPHA:1546 |
Graves Disease, Susceptibility To, 1 |
|
Increased circulating free T4 concentration, Congestive heart failure, Increased circulating free... |
OMIM:275000 |
Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Eczema |
ORPHA:79278 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Eczema |
ORPHA:1525 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell... |
OMIM:603553 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Failure to th... |
OMIM:235555 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... |
ORPHA:379 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Autoimmunity, Weight loss |
ORPHA:33577 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Cardiomegaly, Vomiting, Macrovesicular hepatic steatosis, Antenatal ... |
OMIM:608836 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Anemia |
ORPHA:75563 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glyc... |
ORPHA:264580 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated ... |
OMIM:619167 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... |
ORPHA:275766 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened Q... |
ORPHA:143 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal... |
ORPHA:3318 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Abnormal platelet aggregation |
OMIM:614171 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Vomiting, Neut... |
ORPHA:90051 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Right ventricular failure, Antinuclear antibody positivity, Cytoplasmic antineut... |
ORPHA:199241 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Anti-granulocyte-macrop... |
OMIM:610910 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Organic aciduria |
OMIM:617184 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura |
ORPHA:743 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Abnormal heart valve morphology, Splenomegaly, Recurrent upper respiratory tract infec... |
ORPHA:583 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... |
ORPHA:95459 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Abno... |
ORPHA:90117 |
Acrogeria |
|
Excessive wrinkled skin, Skin ulcer |
ORPHA:2500 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Eczema, Cryptorchidism, Patent ductus arteriosus, Mitral regurgitation... |
OMIM:615355 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Conge... |
ORPHA:14 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalciuria, Nephrolithiasis, Hypocalciuria, Pancreatitis |
OMIM:145980 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Lacticaciduria, Cardiomyopathy, Elevated urinary 4-hydroxybutyric acid, Pulmonary arterial hypert... |
OMIM:619003 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracr... |
ORPHA:85212 |
Familial Benign Copper Deficiency |
|
Early balding, Acne |
ORPHA:1551 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... |
ORPHA:1177 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased he... |
OMIM:619259 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Autoimmunity, Autoimmune antibody positivity, Chr... |
ORPHA:36913 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... |
OMIM:612422 |
Juvenile Hyaline Fibromatosis |
|
Skin ulcer |
ORPHA:2028 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:618237 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pul... |
OMIM:619351 |
Sarcosinemia |
|
Hypersarcosinuria, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis |
ORPHA:3129 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Nephrotic syndrome, As... |
ORPHA:834 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Skin rash |
ORPHA:33276 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Synophrys, Decreased circulating total IgM, Decreased circulating IgG level, Hirsutism, Decreased... |
OMIM:300861 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233710 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt... |
ORPHA:811 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid... |
ORPHA:54251 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontinence, Fatty ... |
ORPHA:329478 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Chops Syndrome |
|
Ventricular septal defect, Gastroparesis, Tracheomalacia, Splenomegaly, Patent ductus arteriosus,... |
OMIM:616368 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop... |
ORPHA:276556 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Meige Disease |
|
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... |
ORPHA:90186 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Lipoid Proteinosis |
|
Acne, Pustule, Alopecia of scalp, High palate, Dysphagia, Microglossia, Tongue nodules |
ORPHA:530 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin... |
ORPHA:44890 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity |
ORPHA:98827 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Hypoventilation, Respiratory insufficiency due to muscle weakness, Congestive heart... |
OMIM:310200 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Sparse scalp hair, Multiple joint contractures, Ventricular ... |
ORPHA:33364 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop... |
ORPHA:276575 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233690 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Brain abscess, Central apnea, Urinary incontinence, Bowel incontinence, Con... |
OMIM:616482 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... |
ORPHA:293173 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Myopathy, 3-Methylglutaconic aciduria, Pulmonary arterial h... |
OMIM:212350 |
Gaucher Disease |
|
Osteoarthritis, Cherry red spot of the macula, Hepatomegaly, Abnormal pericardium morphology, Hep... |
ORPHA:355 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Autoimmunity, Portal hypertension, Increased circulating IgA level, Prur... |
ORPHA:186 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hepatomegaly, A... |
OMIM:276700 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Spontaneous esophageal perfor... |
ORPHA:1876 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... |
OMIM:615630 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, ... |
ORPHA:436252 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... |
ORPHA:329336 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Crusting erythematous dermatitis, Telangiectasia, Dystrophic fingernails, D... |
ORPHA:158673 |
Poikiloderma With Neutropenia |
|
Skin rash, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Telangiectas... |
OMIM:604173 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Lymphangioma, Arteriovenous malformation |
ORPHA:137608 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Fucosidosis |
|
Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Vacuolate... |
OMIM:230000 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Atrial septal defect, Vesi... |
OMIM:301068 |
Maternal Uniparental Disomy Of Chromosome X |
|
Congestive heart failure, Azoospermia, Hepatic failure |
ORPHA:261519 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Recurrent skin infections, Renal duplication, Urinary bladder inflammation, C... |
ORPHA:79403 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Furrowed tongue, Nail dystrophy, G... |
OMIM:614204 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... |
ORPHA:119 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Dyspnea, Oliguria, Heart murmur, Stroke, Bacteria... |
ORPHA:1054 |
Tangier Disease |
|
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr... |
OMIM:205400 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent upper respira... |
OMIM:252930 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Acne, Cleft palate, High palate, Pulmonic stenosis |
ORPHA:3098 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Increased circulating IgE level, Nail dystrophy |
ORPHA:89843 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Renal neoplasm, Thoracic aortic aneurysm, Repeated pneumothoraces, Atelecta... |
ORPHA:536467 |
Refsum Disease |
|
Skeletal muscle atrophy, Renal insufficiency, Heart block, Splenomegaly, Cardiomyopathy |
ORPHA:773 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Alopecia, Sparse eyelashes, Sparse eyebrow, Diarrhea, Dilat... |
OMIM:610768 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ... |
ORPHA:131 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... |
OMIM:139090 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Diarrhea, Atopic der... |
ORPHA:2070 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Mucoepithelial Dysplasia, Hereditary |
|
Fibrocystic lung disease, Pneumonia, Eosinophilia, Recurrent pneumonia, Cor pulmonale, Chronic di... |
OMIM:158310 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Ventricular sep... |
ORPHA:79329 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level |
OMIM:152800 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Cln3 Disease |
|
Acne, T-wave inversion, Bradycardia, Dysphagia, Left ventricular hypertrophy, Urinary bladder sph... |
ORPHA:228346 |
Proximal Myopathy With Extrapyramidal Signs |
|
Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam... |
ORPHA:401768 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat... |
OMIM:619355 |
Visceral Myopathy 1 |
|
Gastroparesis, Diarrhea, Megacystis, Hydronephrosis, Urinary retention, Vomiting, Constipation, D... |
OMIM:155310 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia |
ORPHA:664 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Autoimmunity, Parathormone-independent increased renal tubular calcium reabsorpt... |
ORPHA:405 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Splenomegaly, Inflammatory abnormality of the skin, Hepatomegaly |
ORPHA:79332 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Eczema, Ventricular septal defect, Hypospadias, Highly arched eyebrow, Rec... |
ORPHA:500159 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Vesi... |
ORPHA:3208 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Functional abnormality of the bladder |
OMIM:300076 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... |
OMIM:216360 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Thrombocytopenia 1 |
|
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Joint hemorr... |
OMIM:313900 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Scapular winging, Sparse scalp hair, Bicuspid aortic valve, Myocardial infarct... |
OMIM:150230 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop... |
ORPHA:276580 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Eczema, Seborrheic dermatitis, High, narrow palate, Mitral valve ... |
ORPHA:369950 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Nausea, Congestive heart... |
ORPHA:29072 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... |
OMIM:618652 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... |
ORPHA:73224 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Hyperhidrosis, Cardiomegaly |
OMIM:613576 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary l... |
ORPHA:2136 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Osteomyelitis, Skin ulcer |
OMIM:613640 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention, Hirsutism |
ORPHA:2795 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... |
OMIM:614702 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic ca... |
ORPHA:79279 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... |
ORPHA:422 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... |
ORPHA:98853 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Atrioventricular block, Otitis media, Aspiration pneumonia, Chronic ot... |
ORPHA:581 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadeno... |
ORPHA:98849 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:98896 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Pulmonary infiltrates, Hemop... |
ORPHA:79477 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis, Nail dystrophy |
OMIM:616106 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Congestive heart failure, Recurrent pneumonia, Arterial rupture, Mitral valve prolapse, Restricti... |
ORPHA:1900 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Keratoconjunctivitis, Organic aciduria, Perioral eczema |
ORPHA:79242 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer |
ORPHA:1334 |
Hand-Foot-Genital Syndrome |
|
Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Pyelonephritis, Small thena... |
OMIM:140000 |
Alg1-Cdg |
|
Renal insufficiency, Abnormal heart morphology, Cardiomyopathy, Nephrotic syndrome, Decreased liv... |
ORPHA:79327 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Hartnup Disease |
|
Glossitis, Abnormal urinary color, Skin rash, Malabsorption, Infectious encephalitis, Neutral hyp... |
ORPHA:2116 |
Werner Syndrome |
|
Renal neoplasm, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Myocardial inf... |
ORPHA:902 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Cryptorchidism, Heart murmur, Abnormal heart morphology, Decreased testicular size |
ORPHA:1867 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Peri... |
ORPHA:167 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Nephrotic syndrome, Ca... |
OMIM:617713 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Apnea, Episodic tachypnea, Hyperhidrosis, Abnormal heart morphology, Aspiration pneu... |
ORPHA:79264 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Lassa Fever |
|
Shock, Menometrorrhagia, Cough, Dyspnea, Jaundice, Diarrhea, Oliguria, Increased circulating IgM ... |
ORPHA:99824 |
Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia, Acne, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy,... |
ORPHA:445038 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Renal agenesis, Acne, Frontal balding, Synophrys, Cleft palate, Facial hirsutism, ... |
ORPHA:247768 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Eczema, Hypospadias, Highly arched eyebrow, Syn... |
OMIM:617751 |
Infantile Refsum Disease |
|
Cardiomyopathy, Arrhythmia, Facial palsy, Hepatomegaly |
ORPHA:772 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... |
OMIM:613327 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy |
ORPHA:3222 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... |
OMIM:167800 |
Agel Amyloidosis |
|
Proteinuria, Facial palsy, Pruritus, Stage 5 chronic kidney disease, Cardiomyopathy, Keratoconjun... |
ORPHA:85448 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171420 |
Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... |
ORPHA:1055 |
Tsh-Secreting Pituitary Adenoma |
|
Hyperhidrosis, Vomiting, Male hypogonadism, Hyperthyroidism, Hypogonadotropic hypogonadism, Peric... |
ORPHA:91347 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Folliculitis, Nail dystrophy, Ora... |
OMIM:167210 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Pruritus,... |
ORPHA:83617 |
Martsolf Syndrome 1 |
|
Recurrent respiratory infections, Hypogonadotropic hypogonadism, Cardiac arrest, Congestive heart... |
OMIM:212720 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Restrictive ventilatory defect, Pneumonia, Right ventricular hypert... |
OMIM:253700 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... |
OMIM:612301 |
Sitosterolemia 1 |
|
Reticulocytosis, Carotid artery stenosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthri... |
OMIM:210250 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Splenomegaly, Dyspnea, Peripheral arterial stenosis, Hypo... |
ORPHA:90041 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Myopathy, Renal ... |
OMIM:614922 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia,... |
OMIM:607143 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Spl... |
OMIM:612852 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Micropenis, Pleural effusion, Pulmonary hyp... |
OMIM:616897 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... |
OMIM:231005 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ... |
OMIM:224120 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
High palate, Long eyelashes, Skin rash, Low posterior hairline |
OMIM:617523 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Flexion con... |
OMIM:607014 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy |
OMIM:520000 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Bicuspid aortic valve, Eczema, Chronic constipation, Gastroesophageal reflux, Hypoplastic left he... |
OMIM:619721 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Eczema, Lower limb hypertonia, Recurrent otitis media, Median cleft pa... |
OMIM:169400 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy |
OMIM:618229 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Skin ulcer |
ORPHA:86884 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... |
ORPHA:90003 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... |
OMIM:214500 |
Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly, Rhinitis, Mucopolysacchariduria |
ORPHA:93474 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Inc... |
ORPHA:508533 |
Bloom Syndrome |
|
Hepatic steatosis, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Recur... |
OMIM:210900 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Sideroblastic anemia, Ragged-red muscle fibers, Cardiomyopathy, Renal tubular... |
OMIM:530000 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... |
ORPHA:263665 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Cytoplasmic antineutrophil antibody positivity, Uveitis, Skin... |
OMIM:608710 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Ventricular septal defect, Shoulder muscle hypoplasia, S... |
OMIM:274000 |
Fixed Drug Eruption |
|
Stomatitis, Crusting erythematous dermatitis |
ORPHA:293812 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Patchy alopecia, Ir... |
OMIM:109650 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Scaling skin, Skin ulcer |
ORPHA:454831 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Hand muscle weakness, Congesti... |
ORPHA:98908 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatic ... |
OMIM:608013 |
Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Skin rash, Macular purpura |
ORPHA:49566 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Telangiectasia of the skin, Enlarged kidney, Seborrheic dermatitis |
ORPHA:276280 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98863 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Psoriasiform dermatitis, Severe B lymphocytopenia, Decrease... |
ORPHA:293978 |
Familial Tumoral Calcinosis |
|
Calcification of muscles, Hepatomegaly, Skin rash, Splenomegaly, Nephrocalcinosis |
ORPHA:53715 |
Vici Syndrome |
|
Recurrent respiratory infections, Decreased circulating IgG2 level, Ureteral atresia, Renal tubul... |
ORPHA:1493 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art... |
OMIM:251290 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertension, Hepatic steatosis, A... |
OMIM:151660 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Acne, Cleft palate |
ORPHA:261190 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm... |
ORPHA:158048 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Pruritus, Diarrhea, Hypot... |
ORPHA:99828 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroid peroxidase antibo... |
OMIM:610199 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... |
OMIM:123700 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... |
ORPHA:60025 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Diarrhea, Stroke-like episode, Cardiomyopathy, Impotence, Con... |
OMIM:105210 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, Sclerosing chol... |
OMIM:607626 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Double aortic arch, Apnea, Cough, Splenomegaly, Thrombocytopenia, Stridor, Gastroes... |
OMIM:230900 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Diarrhea, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Anoperineal fistula, Perio... |
OMIM:613960 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Vomiting, Prolonged QTc interval, Mildly reduced left ventri... |
ORPHA:66529 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Pustule, ... |
ORPHA:678 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... |
OMIM:258450 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Congestive heart failure, Stroke |
ORPHA:3077 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,... |
OMIM:275350 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Pustule, Atopic dermatitis, Hypovolemic shock, Vomiting, Arrhythmia |
ORPHA:171876 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Decreased liver function, Prolonged neonatal jaundice |
OMIM:618437 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Apnea, Neutropenia, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia,... |
OMIM:618253 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Transient ischemic attack, Abnormality of the kidney, ... |
ORPHA:167635 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Hypospadias, Ventricular septal defect, Increased mean platel... |
OMIM:222470 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... |
ORPHA:555877 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, Multicystic kidney dyspla... |
OMIM:308205 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Skin rash, Acne, Sudden cardiac dea... |
ORPHA:758 |
Monosomy 22 |
|
Seborrheic dermatitis, Synophrys, Contractures of the large joints, High palate, Sparse hair, Mic... |
ORPHA:96123 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Anemia |
ORPHA:1842 |
Hurler Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal heart valve morphology, Angina pectoris,... |
ORPHA:93473 |
Acrodermatitis Enteropathica |
|
Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis |
ORPHA:37 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... |
ORPHA:228116 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infections, Pituitary hypothyro... |
ORPHA:66628 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Glycogen accumulation ... |
ORPHA:368 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Recurrent upper respiratory tract... |
OMIM:253200 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Rhabdomyolysis, Ventricular t... |
ORPHA:159 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfa... |
OMIM:607015 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Osteoarthritis, Acne, Hirsutism |
ORPHA:77296 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Osteoarthritis, Skin ulcer |
ORPHA:1657 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Chronic diarr... |
OMIM:601495 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Peripheral arter... |
ORPHA:71493 |
Incontinentia Pigmenti |
|
Skin rash, Telangiectasia of the skin, Eosinophilia, Keratitis, Congestive heart failure, Retinal... |
ORPHA:464 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent... |
ORPHA:90348 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies |
OMIM:616549 |
Aarskog-Scott Syndrome |
|
Congestive heart failure, Cryptorchidism |
ORPHA:915 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebra... |
ORPHA:904 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Limb joint contracture, Seborrheic dermatitis, Flexion contracture, Lowe... |
OMIM:301072 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Arrhythmia, ... |
ORPHA:254913 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infections, Pituitary hypothyro... |
ORPHA:179494 |
Ollier Disease |
|
Skin ulcer |
ORPHA:296 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Mucopolysa... |
ORPHA:584 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia, Decreased circulating complement factor B concentration |
OMIM:615561 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG... |
OMIM:615418 |
Ogden Syndrome |
|
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic... |
OMIM:300855 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Heart murmur, Skin rash, Pulmonic stenosis |
OMIM:617600 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Nephrotic syndrome, Ker... |
ORPHA:238468 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Prolidase Deficiency |
|
Pruritus, Crusting erythematous dermatitis, Erythema, Skin ulcer, Dry skin |
ORPHA:742 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Ventricular septal defect, Decreased response to growth hormone stimulation test, Tr... |
ORPHA:444077 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in ... |
ORPHA:391428 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunctio... |
ORPHA:436271 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Pulmonary insufficiency, Ne... |
OMIM:208500 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:576 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia |
ORPHA:83601 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Cardiomyopathy, Test... |
OMIM:222300 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Splenomegaly... |
OMIM:619418 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Nausea, Jaundice, Chronic calcifying pancreatitis, Vomiting, Abnormal ... |
ORPHA:103918 |
Meningococcal Meningitis |
|
Shock, Renal insufficiency, Projectile vomiting, Skin rash, Hypotension, Infectious encephalitis |
ORPHA:33475 |
Say-Barber-Miller Syndrome |
|
Eczema, Highly arched eyebrow, Abnormality of the hairline, Erythema nodosum, Sparse eyebrow, Elb... |
ORPHA:3132 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Unilateral renal agenesis, Intraventricular hemorrhage, Cleft palate, Abnormal heart m... |
ORPHA:79284 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... |
OMIM:235255 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... |
OMIM:608149 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Ragged-red muscle fibers, Nephrotic syndrome,... |
OMIM:607426 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly |
OMIM:618107 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Facial palsy, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ... |
OMIM:604377 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Eczema |
ORPHA:79254 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:618378 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morphol... |
ORPHA:98907 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... |
OMIM:609286 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Fetal ascite... |
OMIM:607625 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension, Alopecia, Acne, Hirsutism |
OMIM:615830 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Heparan sulfate excretion in urine, Splenomegaly, ... |
OMIM:253220 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Respiratory distress, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypo... |
ORPHA:79404 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Encephalitis Lethargica |
|
Urinary incontinence, Bowel incontinence, Autoimmunity, Upper limb muscle weakness, Increased cir... |
ORPHA:83600 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hip contracture, Bilateral fetal pyelectasis, Seborrheic dermatitis... |
OMIM:300868 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Renal tubu... |
OMIM:220110 |
Plague |
|
Respiratory distress, Chapped lip, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, In... |
ORPHA:707 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa... |
OMIM:153670 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Impaired T cell function, Anisocytosis, Fola... |
OMIM:258900 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Abnormal rena... |
ORPHA:1655 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Tachypnea, Hypertension, Pulmonary arterial hypertension, Vascular dilatation |
OMIM:613320 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia, Anhidrosis |
OMIM:614979 |
Aceruloplasminemia |
|
Refractory anemia, Congestive heart failure, Abnormal pancreas morphology, Hypochromic microcytic... |
ORPHA:48818 |
Type 1 Diabetes Mellitus |
|
Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Cardiomyopathy, Urinary glycosaminoglycan excretion, Aspiration pneumonia, In... |
ORPHA:79255 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Acral ulceration |
OMIM:162400 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Cardiomyopathy, Prolonged prothrombin time, Abnormality of the liv... |
ORPHA:88618 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... |
ORPHA:679 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Renal tubular acidosis, Cardiomyopathy, Chronic kidney disease, 3-Methylglutaconic aciduria |
ORPHA:324525 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Myotonic Dystrophy 2 |
|
Tachycardia, Frontal balding, Premature ventricular contraction, Right bundle branch block, Decre... |
OMIM:602668 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T ... |
ORPHA:760 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic hair, Cardiac ... |
OMIM:181270 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia |
OMIM:617710 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Diarrhea, Irregular mens... |
ORPHA:79240 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Hyperhidrosis, Mucopolysacchariduria,... |
ORPHA:349 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Hypercalciuria, Lacunar stroke, Mucop... |
OMIM:618440 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy |
OMIM:500007 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Gastro... |
OMIM:619488 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash, Organic aciduria, Vomiting, Elevated urinary 3-methylcrotonylglycine level, ... |
OMIM:253270 |
Autosomal Dominant Hypocalcemia |
|
Eczema, Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hypotension, Arrhythmia, Hype... |
ORPHA:428 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy, Glutaric aciduria, D-2-hydroxyglutaric aciduria |
OMIM:600721 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Diarrhea, Hypogonadism, Decreased testicula... |
OMIM:201100 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Decreased liver function, Anemia |
OMIM:618839 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171300 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P... |
ORPHA:3309 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Patent ductus... |
ORPHA:251066 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:259700 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... |
OMIM:212112 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Skin rash, Dextrocardia, Stomatitis, Megaloblastic anemia, Thrombocyt... |
OMIM:277380 |
Leukocyte Adhesion Deficiency, Type I |
|
Skin ulcer, Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis |
OMIM:116920 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A... |
ORPHA:1454 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Dyspnea, Right bundle branch block, Hyperte... |
OMIM:614008 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:614299 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypertrophic cardiomyopathy |
OMIM:618241 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Eczema, Celiac disease, Diarrhea, Thyroiditis, Vomiting, Recurrent aphthous stomatitis,... |
OMIM:212750 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Ta... |
OMIM:239200 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy... |
OMIM:617022 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cholestatic liver disease |
ORPHA:5 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Eczema, Elbow contracture, Knee flexion contracture, Decreased circulating tot... |
OMIM:618162 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Cardiomyopathy, Limb-girdle muscle weakness, Myopathy |
ORPHA:1215 |
Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hypoparathyroi... |
OMIM:277900 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Telangiectasia of the s... |
ORPHA:1775 |
Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Arrhythmia, Respiratory insufficiency, Bowel incontinence |
ORPHA:682 |
Flynn-Aird Syndrome |
|
Skin ulcer |
ORPHA:2047 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Recurrent skin infections |
ORPHA:568051 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy |
OMIM:300438 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Anemia, Cardiomegaly |
OMIM:618838 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Mildly elevated creatine kinase, Hashimoto thyroiditis, Thymoma, Systemic lupus erythematosus |
OMIM:159400 |
Marfan Syndrome |
|
Mitral valve calcification, Arthralgia/arthritis, Spontaneous pneumothorax, Congestive heart fail... |
ORPHA:558 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morphology, Splen... |
ORPHA:667 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormal heart valve morphology... |
ORPHA:77293 |
W Syndrome |
|
Acne, Submucous cleft hard palate, Abnormality of the scalp hair, Camptodactyly, Broad uvula |
ORPHA:2804 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Raynaud phenomenon, Micr... |
OMIM:192315 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Chronic diarrhea,... |
ORPHA:217085 |
Familial Keratoacanthoma |
|
Skin ulcer |
ORPHA:493 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... |
OMIM:618775 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H... |
ORPHA:373 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Bile duct... |
OMIM:618329 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... |
ORPHA:370959 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Gastrointestinal dysmotility, Recurrent skin infections |
OMIM:616488 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism... |
ORPHA:94093 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Increased circulating IgE level |
OMIM:611521 |
Ring Chromosome 12 Syndrome |
|
Acne, Secundum atrial septal defect, High, narrow palate, Glandular hypospadias, Dystrophic toena... |
ORPHA:1439 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hepatomegaly, Hypertrophic cardiomyopathy, Micropenis |
OMIM:618810 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Bone-marrow foam cells, Fetal ascit... |
OMIM:257220 |
Alg3-Cdg |
|
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Decreased liver function |
ORPHA:79321 |
Brooke-Spiegler Syndrome |
|
Skin ulcer |
ORPHA:79493 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Congestive h... |
OMIM:617156 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation... |
OMIM:606721 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... |
OMIM:176670 |
Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Premature arteriosclerosis, Abnormality of the pulmonary a... |
ORPHA:79474 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Vomiting, Hypotension, Mastocyt... |
ORPHA:2135 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Hypoperistalsis, ... |
ORPHA:1018 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Chronic diarrhea,... |
ORPHA:217093 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Renal insufficiency, Epistaxis, Hematochezia, Cardiomyopathy, Inflammati... |
OMIM:203300 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Mpdu1-Cdg |
|
Eczema, Renal cortical cysts |
ORPHA:79323 |
Hatipoglu Immunodeficiency Syndrome |
|
Hypospadias, Eczema, Atopic dermatitis, Premature graying of hair, Recurrent otitis media, Fair hair |
OMIM:620331 |
Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis |
ORPHA:2119 |
Penoscrotal Transposition |
|
Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality of the ureter, Ca... |
ORPHA:2842 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... |
ORPHA:733 |
Rasmussen Subacute Encephalitis |
|
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... |
ORPHA:1929 |
Mullerian Aplasia And Hyperandrogenism |
|
Acne, Hirsutism, Unilateral renal agenesis |
OMIM:158330 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Pericardial effusion, Cardiomyopathy, Elevated urine acetoacetic acid le... |
OMIM:620089 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic diarrhea, Chronic decreased circulating ... |
OMIM:300953 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Hepatoblastoma, Nephroblastoma, Cardiomegaly, Splenomegaly, H... |
ORPHA:116 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo... |
ORPHA:521411 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Marfan Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, P... |
OMIM:154700 |
Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Recurrent skin infections, Abnormal heart valve morphology, Malrotation of... |
ORPHA:2953 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Respiratory insufficiency |
OMIM:166210 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Distal amyotrophy |
OMIM:617183 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney, Pericardial effusion, Re... |
OMIM:235510 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Splenomegaly, Aortic ... |
ORPHA:2072 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:3173 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Glandular hypospadias,... |
OMIM:620306 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:616896 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal... |
ORPHA:89842 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Pneumothorax, Microp... |
OMIM:617403 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Pituitary prolactin cell adenoma, Pituitary gr... |
ORPHA:99725 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Cleft palate |
ORPHA:96181 |
Carney Complex, Type 1 |
|
Cardiac myxoma, Congestive heart failure, Elevated circulating growth hormone concentration |
OMIM:160980 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Hypercapnia, High-output congestive heart failure, Tachypnea, Cardiomyocyt... |
ORPHA:423 |
Estrogen Resistance |
|
Breast aplasia, Acne |
OMIM:615363 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Decreased liver function, Anemia |
OMIM:618835 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated hepatic transaminase, Osteomyelitis, Hypospadias, Bicuspid aortic ... |
OMIM:619475 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Pulmonic stenosis, Cryptorchidism |
OMIM:613224 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Neutropenia, Lym... |
OMIM:617827 |
Lymphatic Malformation 6 |
|
Splenomegaly, Hydrocele testis, Varicose veins, Pleural effusion, Gastroesophageal reflux, Chylot... |
OMIM:616843 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate... |
OMIM:613610 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cardiomyopa... |
OMIM:605275 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Dubowitz Syndrome |
|
Sparse scalp hair, Hypospadias, Eczema, Velopharyngeal insufficiency, Chronic diarrhea, Submucous... |
OMIM:223370 |
Hallermann-Streiff Syndrome |
|
Congestive heart failure, Cryptorchidism, Uveitis, Respiratory insufficiency, Abdominal situs inv... |
ORPHA:2108 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy |
OMIM:617757 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Pollakisuria, Reduced left ventricular eje... |
ORPHA:268 |
Milroy Disease |
|
Erysipelas |
ORPHA:79452 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration |
OMIM:608654 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Gastroesophageal r... |
OMIM:617913 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Increased circulating IgE level, Abnormality of the... |
ORPHA:3409 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... |
OMIM:619534 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal pulmona... |
ORPHA:580 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Left ventricular hypertrophy,... |
OMIM:618321 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Lower limb amyotrophy |
ORPHA:496790 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy |
OMIM:620326 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... |
ORPHA:98905 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp... |
ORPHA:314655 |
Cysticercosis |
|
Calcification of muscles, Iridocyclitis, Abnormal skeletal muscle morphology, Increased circulati... |
ORPHA:1560 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... |
OMIM:225400 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter... |
ORPHA:90324 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Hypospadias, Cryptorchidism |
ORPHA:2505 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Ventricular septal defect, Cryptorchidism, A... |
OMIM:122470 |
Trichinellosis |
|
Skin rash, Facial palsy, Increased circulating IgE level, Retinal hemorrhage, Conjunctivitis, Dys... |
ORPHA:863 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy |
OMIM:614879 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia, Ectopic kidney |
OMIM:613328 |
Distal Duplication 5Q |
|
Dextrocardia, Ventricular septal defect, Eczema, Hypospadias |
ORPHA:96097 |
Chand Syndrome |
|
Atelectasis, Hydroureter, Hypohidrosis |
ORPHA:1401 |
Familial Multiple Nevi Flammei |
|
Skin ulcer |
ORPHA:624 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Recurrent skin infections, Pruritus, Abnormal tongue morphology,... |
ORPHA:158668 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Ascites |
OMIM:611719 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Chronic pancreatitis, Cryptorchidism, Adrenal insufficiency, Episodic... |
OMIM:307030 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions, Neutropenia, Lymp... |
OMIM:616395 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Apnea, Nephroblastoma, Cardiomegaly, Abnormal cardiac septum mo... |
ORPHA:97297 |
Aymé-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Proteinuria, Congenital diaphragmatic hernia, Pericardial effusi... |
ORPHA:1272 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Conjunctivitis, Hypopl... |
OMIM:103285 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart bl... |
ORPHA:416 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal... |
OMIM:610733 |
Complete Androgen Insensitivity Syndrome |
|
Acne, Sparse axillary hair, Sparse pubic hair, Absent pubic hair, Absent axillary hair |
ORPHA:99429 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Abnormal urinary color |
ORPHA:234 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:619383 |
Japanese Encephalitis |
|
Respiratory distress, Neutrophilia, Pulmonary edema, Diarrhea, Increased circulating IgM level, V... |
ORPHA:79139 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Sinusitis, Pneumonia, Nausea, Pustule, Respiratory tract infection, Intraren... |
ORPHA:68 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Exocrine pancreatic insufficiency |
OMIM:260450 |
Cholera |
|
Tachycardia, Abnormality of renal excretion, Diarrhea, Tachypnea, Hypovolemic shock, Stroke, Vomi... |
ORPHA:173 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Pancytopenia, Recurrent urinary tract infections, Pneumonia, Hepatosplenome... |
ORPHA:309282 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Abnormality of... |
ORPHA:2237 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis |
OMIM:231050 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia, Dysphagia |
ORPHA:52368 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypospadias, Type 2 muscle fiber predomin... |
OMIM:615471 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Cardiomegaly, Abnormal retinal arte... |
ORPHA:51608 |
Noonan Syndrome 5 |
|
Cryptorchidism, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:611553 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Atrial septal defect, Vesicouretera... |
ORPHA:353281 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Skin ulcer |
ORPHA:659 |
Infantile Myofibromatosis |
|
Skin ulcer |
ORPHA:2591 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Abnormal lung morpho... |
ORPHA:646 |
Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Hepatomegaly, Hypospadias, Splenomegaly,... |
OMIM:252010 |
Chikungunya |
|
Maculopapular exanthema, Epistaxis, Skin rash, Raynaud phenomenon, Pruritus, Cervical lymphadenop... |
ORPHA:324625 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Hypertrop... |
ORPHA:251071 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithias... |
OMIM:130650 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Decreased circulating total IgM, Gastroesophageal reflux, Nail dystro... |
OMIM:620040 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Camptodactyly of finger, E... |
ORPHA:2907 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Skin ulcer |
ORPHA:1806 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Joubert Syndrome 21 |
|
Apnea, Splenomegaly, Dyspnea, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Dysphagia, H... |
OMIM:615636 |
Autoimmune Polyendocrinopathy Type 1 |
|
Autoimmunity, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Uric aci... |
OMIM:220150 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure |
OMIM:617809 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Increased circulating an... |
OMIM:114065 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Acne, Nephrolithiasis, Proximal amyotrophy, Hypertens... |
ORPHA:189427 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Cardiac arrest, Acute rhabdomyolysis, Myoglobinuria, Rh... |
OMIM:616878 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Impaired T cell function, Cryptorchidism, Interrup... |
OMIM:192430 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Eosinophilia, Autoimmunity, Hypercalcemia, Hy... |
ORPHA:199299 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Cryptorchidism, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Weakness of facial musculature |
OMIM:201470 |
O'Sullivan-Mcleod Syndrome |
|
Upper limb muscle weakness, Increased circulating antibody level, Intrinsic hand muscle atrophy, ... |
ORPHA:99965 |
Isolated Osteopoikilosis |
|
Discoid lupus rash, Autoimmunity |
ORPHA:166119 |
Estrogen Resistance Syndrome |
|
Acne, Breast hypoplasia, Abnormality of the pubic hair |
ORPHA:785 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypospadias, Patent foramen... |
ORPHA:17 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest |
OMIM:620167 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati... |
OMIM:608328 |
Progeroid Short Stature With Pigmented Nevi |
|
Premature ovarian insufficiency, Bicuspid aortic valve, Hypospadias, Allergic rhinitis, Impaired ... |
OMIM:176690 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria, Abnormal heart morphology, Palpitations, Hypertro... |
OMIM:618250 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... |
OMIM:615398 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Recurrent skin infections, Camptodactyly of finger, Phimosis, Esophageal stri... |
ORPHA:2908 |
Coffin-Siris Syndrome |
|
Hypospadias, Ventricular septal defect, Hepatoblastoma, Cryptorchidism, Patent ductus arteriosus,... |
ORPHA:1465 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Dysphagia, Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:845 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Aortic regurgitation, Curly hair, Sparse scalp hair, Ventricular se... |
OMIM:607721 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Respiratory failure, Impaired myocardial contrac... |
ORPHA:158687 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valve prolapse, Hyper... |
OMIM:616564 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Organic aciduria, Conjunctivitis, Limb muscle weakness, Eczematoid dermatitis |
ORPHA:79241 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Acne, Renal salt wasting, Long penis, Hirsutism, Intracranial hemorrhage, Hypertension,... |
ORPHA:90795 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Autoimmunity |
ORPHA:91354 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Oral-pharyngeal dysphagia, Xerostomia, Gastrointestinal inflammation, Conju... |
ORPHA:95455 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Hypospadias, Abnormal pul... |
ORPHA:500 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Foot osteomyelitis, Acral ulceration |
OMIM:256840 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum mo... |
OMIM:217980 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia, Venous malformation |
OMIM:612918 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Mucosal telangiectasiae, Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Apnea, Gastroesophageal reflux, Aspiration pneumonia, Atrial septal defect... |
ORPHA:438213 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Familial Glucocorticoid Deficiency |
|
Autoimmunity, Renal salt wasting, Cryptorchidism, Testicular adrenal rest tumor, Hypernatriuria, ... |
ORPHA:361 |
Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Atopic dermatitis, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyop... |
OMIM:115150 |
Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
Zimmermann-Laband Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Long penis, Nephrolithiasis, Cardiomyopathy |
OMIM:135500 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Skin rash, Elevated circulat... |
ORPHA:97280 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
Ayme-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Nail dystrophy, Camptodactyly, Broad eyebrow |
OMIM:601088 |
Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Cholelithiasis... |
OMIM:263700 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis,... |
OMIM:619745 |
Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Constipation, Cardiomegaly |
OMIM:618143 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia, Oral-pharyngeal dysphagia |
ORPHA:99772 |
Costello Syndrome |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Macroglossia, Pulmonic stenosis... |
ORPHA:3071 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Dysuria, Abnormal mesentery morphology, Cardiomyopathy, Myopathy, Ne... |
ORPHA:3463 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegal... |
ORPHA:79277 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Absent eyelashes, Sparse e... |
OMIM:305100 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Atrial septal defect, Aspiration, V... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Atrial septal defect, Aspiration, V... |
ORPHA:353277 |
Okur-Chung Neurodevelopmental Syndrome |
|
Highly arched eyebrow, Protruding tongue, Synophrys, Decreased circulating antibody level, Abnorm... |
OMIM:617062 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... |
OMIM:234700 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Aspiration pneumonia, Dysphagia |
ORPHA:216866 |
Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Renal tubular dysfunction, Cirrhosis, Glycosuria, Hypertrophic cardiomyo... |
OMIM:616539 |
Myasthenia Gravis |
|
Autoimmunity, Thymoma |
OMIM:254200 |
Carney Complex |
|
Neoplasm of the pancreas, Sertoli cell neoplasm, Elevated circulating growth hormone concentratio... |
ORPHA:1359 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia |
ORPHA:572798 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:610773 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Heart block, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:175 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Splenomegaly, Red urine, Red-brown urine, ... |
ORPHA:95159 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... |
ORPHA:363623 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... |
OMIM:245600 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Recurrent skin infections, Diastasis recti, Intest... |
OMIM:601776 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Splenomegaly, Defective production of... |
OMIM:612132 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Splenomegaly, Ileus, Hypohidrosis, Constipation, Hypogonadism, Arrhythmia |
ORPHA:163746 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture |
OMIM:614462 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Gastroparesis, Unilatera... |
ORPHA:500150 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
OMIM:609942 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Dysphagia, Urinary urgen... |
ORPHA:99027 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy |
OMIM:619121 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, L... |
ORPHA:255210 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscrotal hypospadias, Hepatom... |
OMIM:270400 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m... |
OMIM:164310 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Abnormal heart morpholo... |
ORPHA:369837 |
Angioedema, Hereditary, 1 |
|
Erythema, Autoimmunity |
OMIM:106100 |
Adult Syndrome |
|
Dry skin, Skin ulcer |
ORPHA:978 |
Friedreich Ataxia |
|
Hand muscle atrophy, Cardiomyopathy, Urinary bladder sphincter dysfunction |
ORPHA:95 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Proximal tubulopathy, Abnormal mitochondria in muscle ... |
ORPHA:2609 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Apnea, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arterio... |
OMIM:602535 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Long penis, Nephrocalcinosis, Cardiomyopathy, Macrog... |
ORPHA:769 |
Pmm2-Cdg |
|
Respiratory distress, Elevated hepatic transaminase, Pericarditis, Proteinuria, Angina pectoris, ... |
ORPHA:79318 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Coa... |
OMIM:617088 |
Infantile Systemic Hyalinosis |
|
Skin ulcer |
ORPHA:2176 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Skin ulcer, Panniculitis, Scaling skin, Dry skin, Erysipelas |
ORPHA:2526 |
Okamoto Syndrome |
|
Ventricular septal defect, Urinary incontinence, Splenomegaly, Abnormal left ventricle morphology... |
ORPHA:2729 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Acne, Frontal balding, Hypertension, Hirsutism |
ORPHA:786 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Osteomyelitis, Acral ulceration |
OMIM:256800 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Autoimmunity, Hypercalcemia, Hyperkalemia, Weight loss, Increase... |
ORPHA:95409 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Splenomegaly, Leukopenia, Urinary retention,... |
ORPHA:1328 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Renal cyst, Hepatoblastoma, Atrial septal defect, Hepatomegaly, Neonatal ... |
OMIM:312870 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Palmoplantar cutis laxa, Periodontitis, Autoimmunity |
OMIM:130080 |
Addison Disease |
|
Normocytic anemia, Hyponatremia, Autoimmunity, Hypercalcemia, Thiamine-responsive megaloblastic a... |
ORPHA:85138 |
Lissencephaly Due To Lis1 Mutation |
|
Dilation of Virchow-Robin spaces, Aspiration pneumonia |
ORPHA:95232 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Chronic constipation, Aspiration pneumonia |
OMIM:616430 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Cryptorchidism, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Hypertrophic ... |
OMIM:614052 |
Johanson-Blizzard Syndrome |
|
Hepatic fibrosis, Atrial septal defect, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, El... |
OMIM:243800 |
Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... |
OMIM:182250 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Pneumonia, Jaundice, Vomiting, Macroorchidism |
ORPHA:90790 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Cardiomyopathy, Neutropenia |
ORPHA:79430 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Stiff-Person Syndrome |
|
Autoimmunity, Anemia |
OMIM:184850 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Cryptorchid... |
ORPHA:96191 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Eczema, Hypospadias, Decre... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Eczema, Hypospadias, Decre... |
ORPHA:363958 |
Toriello-Carey Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum morphology, Pul... |
ORPHA:3338 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Hypospadias, Unilateral renal agenesis, Complete atriovent... |
OMIM:151100 |
Cushing Disease |
|
Acne, Skin ulcer, Recurrent cutaneous fungal infections, Ecchymosis, Striae distensae, Purpura |
ORPHA:96253 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Chronic constipation, ... |
OMIM:619482 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia |
ORPHA:53351 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism, Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... |
ORPHA:3472 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Juncti... |
OMIM:309801 |
Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Macroorchidism, Splenomeg... |
ORPHA:93 |
Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology |
ORPHA:886 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Supernumerary nipple, Patent ductus arteriosus, Pineal cyst, Atrial se... |
OMIM:600268 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Osteoarthritis of the distal interphalangeal joint, Autoimmunity... |
ORPHA:93284 |
Glossopharyngeal Neuralgia |
|
Autoimmunity, Weight loss |
ORPHA:221098 |
Semilobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart m... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart m... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart m... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart m... |
ORPHA:93924 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Recurrent respiratory infections, Hypospadias, Pneumonia, Secundum atrial ... |
OMIM:264090 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Eczema, Coronary sinus enlargement, Hypospadias, Atrial septal defect,... |
OMIM:619268 |
Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure, Dysphagia |
ORPHA:94147 |
Congenital Analbuminemia |
|
Recurrent lower respiratory tract infections, Increased circulating antibody level, Low pulse pre... |
ORPHA:86816 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Acromegaly |
|
Acne, Dysuria, Elevated circulating growth hormone concentration, Osteoarthritis, Wide penis, Lon... |
ORPHA:963 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Abnorm... |
ORPHA:84 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy |
OMIM:616051 |
Hajdu-Cheney Syndrome |
|
Dry skin, Periodontitis, Skin ulcer |
ORPHA:955 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Brain abscess, Neoplasm of the pan... |
ORPHA:2929 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Distal amyotrophy, Increased circulating antibody level, Dysphagia |
OMIM:606002 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Urinary bladder inflammation, Erythema, Bronchiectasis, Skin ulcer, Arthritis, Keratoc... |
ORPHA:99921 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Respiratory distress, Congenital hypothyroidis... |
ORPHA:79500 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Long penis, Hypercalciuria, Nephrocalcin... |
ORPHA:508 |
Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mi... |
OMIM:218040 |
Chime Syndrome |
|
Erythema, Skin ulcer |
ORPHA:3474 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Somatomammotropinoma |
|
Dysuria, Elevated circulating growth hormone concentration, Osteoarthritis, Pituitary adenoma, Ma... |
ORPHA:314769 |
Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Congenital diaphragmatic hernia,... |
ORPHA:2556 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy... |
OMIM:163950 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Increased hepatocellular lipid dro... |
OMIM:220111 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... |
OMIM:601992 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Interphalangeal joint contracture of fin... |
ORPHA:96334 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy |
OMIM:618222 |
Leprosy |
|
Iritis, Penetrating foot ulcers, Acral ulceration, Uveitis |
ORPHA:548 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Skin ulcer, Recurrent cutaneous fungal infections, Ecchymosis, Striae distensae, Purpura |
ORPHA:99889 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral re... |
ORPHA:363700 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, Hypoplastic nipples, At... |
ORPHA:480880 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Rhabdomyosarcoma, Renovascular hypertension, Abnormal heart morpholog... |
ORPHA:97685 |
Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Heart murmur, Cardiomyopathy, Aspiration ... |
OMIM:216340 |
Split Cord Malformation |
|
Penetrating foot ulcers |
ORPHA:573278 |