Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... |
OMIM:613501 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections, Disseminated cryptosporidium infection, Failure to thrive, Recurrent m... |
OMIM:614372 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Recurrent respiratory infect... |
OMIM:616022 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level |
OMIM:615206 |
Adult Acute Respiratory Distress Syndrome |
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Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:70578 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... |
OMIM:613953 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Infant Acute Respiratory Distress Syndrome |
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Cyanosis, Cardiac arrest, Pneumonia, Hypoxemia, Tachypnea, Hypotension, Respiratory tract infecti... |
ORPHA:70587 |
Immunodeficiency 48 |
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Pneumonia, Splenomegaly, Failure to thrive, Eczematoid dermatitis, Panhypogammaglobulinemia, Recu... |
OMIM:269840 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Neutropenia, Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent strep... |
ORPHA:70592 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency 61 |
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Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Frequent Giardia lamb... |
OMIM:300310 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Elevated ... |
ORPHA:542323 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
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Recurrent bacterial skin infections, Fever |
ORPHA:183713 |
Agammaglobulinemia 2, Autosomal Recessive |
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Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia,... |
OMIM:613500 |
Immunodeficiency 69 |
|
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Leukocytosis, Thr... |
OMIM:618963 |
Pulmonary Blastoma |
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Recurrent pneumonia, Cough, Dyspnea, Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Abnormal circulating interleukin concentration, Lymphadenitis, Pneumonia, Disseminated nontubercu... |
ORPHA:319552 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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T lymphocytopenia, Purulent rhinitis, Pneumonia, Recurrent opportunistic infections, Meningitis, ... |
OMIM:601457 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... |
OMIM:613502 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... |
OMIM:613494 |
Immunodeficiency 35 |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infections, Recu... |
OMIM:611521 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypercholesterolemia, Oligohydramnios, Hypotensio... |
OMIM:616000 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Sinusitis, Pneumonia, Decreased proportion of CD4-positive helpe... |
OMIM:312863 |
Cd8 Deficiency, Familial |
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Recurrent viral infections, Recurrent bacterial infections, Bronchiectasis, Recurrent respiratory... |
OMIM:608957 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent otitis media,... |
OMIM:613493 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
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Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Neutrope... |
OMIM:614868 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... |
OMIM:612692 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... |
OMIM:202700 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:607594 |
Specific Granule Deficiency 1 |
|
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Recurrent bacterial infections... |
OMIM:245480 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Asplenia, Isolated Congenital |
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Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Immunodeficiency 52 |
|
Recurrent infections, Recurrent pneumonia, Persistent CMV viremia, Coombs-positive hemolytic anem... |
OMIM:617514 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... |
OMIM:605258 |
Immunodeficiency 104 |
|
T lymphocytopenia, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Eczema, Otitis me... |
OMIM:608971 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... |
ORPHA:178320 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Respiratory Distress Syndrome In Premature Infants |
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Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Edema, Pulm... |
OMIM:267450 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... |
OMIM:193670 |
Tako-Tsubo Cardiomyopathy |
|
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... |
ORPHA:66529 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Recurrent viral in... |
ORPHA:275 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:308220 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, R... |
ORPHA:572 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... |
OMIM:247800 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... |
OMIM:243700 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Multiple lipomas, Chondrocalcinosis, Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Immunodeficiency 34 |
|
Severe recurrent varicella, Recurrent mycobacterial infections |
OMIM:300645 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... |
OMIM:300400 |
Systemic Capillary Leak Syndrome |
|
Arrhythmia, Myocarditis, Hypotension, Pleural effusion, Pancreatitis, Cough, Rhinorrhea, Pedal ed... |
ORPHA:188 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia, Recurrent bacterial infections |
OMIM:300299 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Recurrent abscess formation, Recurrent pneumonia, Recurrent infe... |
ORPHA:169160 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Cellulitis, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Elevated circula... |
OMIM:604416 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Pneumonia, Recurrent viral infections, Asthma, Onychomycosis, Recurrent respir... |
ORPHA:217390 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... |
ORPHA:276 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Abnormal pulmonary ve... |
ORPHA:199241 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia |
OMIM:615214 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Mastocytosis, Maculopapular exanthema, Splenomegaly, Increased pro... |
ORPHA:98848 |
Primary Erythromelalgia |
|
Leukemia, Hypothermia |
ORPHA:90026 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... |
OMIM:613860 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Elevated jugular venous pressure, Reduced ejection fracti... |
ORPHA:57777 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Chroni... |
OMIM:209920 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Recurrent bacter... |
OMIM:601495 |
Wild Type Attr Amyloidosis |
|
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... |
ORPHA:330001 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Gne Myopathy |
|
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... |
ORPHA:602 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... |
OMIM:115197 |
Immunodeficiency 32B |
|
Sinusitis, Recurrent infections, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory i... |
OMIM:226990 |
Staphylococcal Necrotizing Pneumonia |
|
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Tachypnea, Elevated circulatin... |
ORPHA:36238 |
Familial Isolated Restrictive Cardiomyopathy |
|
Peripheral edema, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Dyspnea, Recur... |
ORPHA:75249 |
Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Recurrent viral infections, Recurrent bacterial infections, Decreased circulat... |
ORPHA:169079 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia, Fever |
OMIM:162800 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopathy, Ascites, ... |
OMIM:261740 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Idiopathic Bronchiectasis |
|
Abnormal respiratory system physiology, Emphysema, Reduced FEV1/FVC ratio, Crackles, Respiratory ... |
ORPHA:60033 |
Idiopathic Achalasia |
|
Cough, Recurrent aspiration pneumonia, Weight loss, Wheezing, Bronchitis |
ORPHA:930 |
Nemaline Myopathy 2 |
|
Slender build, Increased variability in muscle fiber diameter, Limb muscle weakness, Dysphagia, C... |
OMIM:256030 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia, B lymphocytopenia, Perianal... |
OMIM:619437 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Adult Idiopathic Neutropenia |
|
Recurrent infections, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level... |
ORPHA:2688 |
Polycythemia Vera |
|
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... |
OMIM:263300 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... |
OMIM:618806 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Increased connective tissue, ... |
OMIM:601954 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:617158 |
Immunodeficiency 14A, Autosomal Dominant |
|
T lymphocytopenia, Recurrent ear infections, Decreased specific pneumococcal antibody level, Incr... |
OMIM:615513 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Persistent CMV vi... |
OMIM:619220 |
Reticular Dysgenesis |
|
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Recurrent respirato... |
ORPHA:33355 |
Caspase 8 Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Pneumonia, Asthma, Decreased CD... |
OMIM:607271 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Neutropenia, Recurrent respiratory infections, Eczema, Recu... |
OMIM:300988 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Autoimmune hemolytic anemia, Autoimmune thrombocyto... |
OMIM:608184 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... |
OMIM:608106 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Failure to thrive, Eczematoid dermatitis, Abs... |
OMIM:619693 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... |
ORPHA:266 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Hereditary Myopathy With Early Respiratory Failure |
|
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... |
ORPHA:178464 |
Tuberculosis |
|
Abnormal lung morphology, Weight loss, Cough |
ORPHA:3389 |
Hypomagnesemia, Seizures, And Mental Retardation 1 |
|
Hypomagnesemia |
OMIM:616418 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... |
OMIM:618655 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Lymphocytosis, Skin rash, Chronic mucocutaneous candidiasis, Chronic... |
ORPHA:911 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial... |
OMIM:240500 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia |
OMIM:617638 |
Pneumocystosis |
|
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Abnormal neut... |
ORPHA:723 |
Immunodeficiency 72 With Autoinflammation |
|
Recurrent otitis media, Recurrent infections, Increased circulating IgG level, Hepatosplenomegaly... |
OMIM:618982 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent otitis media, Persistent CMV viremia, Recurrent viral infections, Decreased CD4:CD8 rat... |
OMIM:300853 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... |
ORPHA:75564 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Recu... |
OMIM:606843 |
Lymphatic Malformation 7 |
|
Facial edema, Nonimmune hydrops fetalis, Lymphedema, Respiratory distress, Edema, Pericardial eff... |
OMIM:617300 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Severe infection, Chola... |
ORPHA:183675 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Hypoalbumi... |
OMIM:209950 |
Sickle Cell Anemia |
|
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... |
ORPHA:232 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple lipomas, Hypercalcemia, Chondrocalcinosis, Hypermagnesemia, Hypophosphatemia |
OMIM:600740 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Recurrent infections, Pneumonia, Decreased circulating antibody level, Chronic bronchitis |
OMIM:614069 |
Selective Igm Deficiency |
|
Decreased proportion of CD3-positive T cells, Severe infection, Hashimoto thyroiditis, Rheumatoid... |
ORPHA:331235 |
Thymic Aplasia |
|
Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Opportunistic infec... |
ORPHA:83471 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... |
ORPHA:521 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... |
ORPHA:86841 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Highly elevated creatine kinase, ... |
OMIM:618848 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Recurrent bacterial infections, Decreased circulating antibody level, B lymphocytop... |
OMIM:616873 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Immunodeficiency 57 With Autoinflammation |
|
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, Bro... |
OMIM:618108 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Dyspnea, Anemia, Thrombocytopenia, Weight loss |
ORPHA:517 |
Isolated Agammaglobulinemia |
|
Abnormal lymphocyte morphology, Sinusitis, Pneumonia, Inflammatory abnormality of the eye, Thromb... |
ORPHA:229717 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Autoimmune hemolyt... |
ORPHA:331206 |
Omenn Syndrome |
|
Eosinophilia, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Splenomegaly... |
OMIM:603554 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, Paraproteinemia, Lower limb muscle weakness, Increased vari... |
ORPHA:171442 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent infections, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia... |
OMIM:616576 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Restrictive ventilatory defect, Respiratory failure requiring assisted ventilation, Hypoxemia, Cr... |
ORPHA:264675 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Splenomegaly, Decreased circulating antibody level, Bronchiectasi... |
OMIM:616005 |
Immune Deficiency Disease |
|
Decreased circulating total IgM, Recurrent viral infections, Cholangitis, Recurrent bacterial inf... |
OMIM:242850 |
Ethylene Glycol Poisoning |
|
Cyanosis, Cerebral edema, Congestive heart failure, Hyperkalemia, Hypocalcemia, Tachypnea, Hypote... |
ORPHA:31826 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Weight loss |
ORPHA:141152 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Nonproductive cough, Pneumonia, Airway obstruction, Hypoxemia, Reduced FEV1/FVC ratio, Reduced fo... |
ORPHA:1303 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
Drug-Induced Lupus Erythematosus |
|
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Dyspnea, El... |
ORPHA:231111 |
Childhood-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, Slender build, Increased variability in muscle fiber diamet... |
ORPHA:171439 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... |
OMIM:618986 |
Cardiogenic Shock |
|
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated circulating cre... |
ORPHA:97292 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Hyperuricemia, Anemia, Failure to thrive, Hypomagnesemia, Thrombocytopenia |
OMIM:613845 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased serum pyruvate, Increased variability in muscle fiber diameter... |
ORPHA:238329 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Hyperma... |
ORPHA:405 |
Immunodeficiency 13 |
|
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, T lymp... |
OMIM:615518 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Cirrhosis, Insulin resistance, Maternal diabetes, Abnormality of skeletal musc... |
ORPHA:79083 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Recurrent bacterial infect... |
OMIM:307200 |
Cocaine Intoxication |
|
Tachypnea, Hypertension, Prolonged QRS complex, Wheezing, Pulmonary edema, Hypotension, Cough, Pr... |
ORPHA:90068 |
Ciliary Dyskinesia, Primary, 9 |
|
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... |
OMIM:612444 |
Nipah Virus Disease |
|
Infectious encephalitis, Hypotension, Cough, Respiratory distress, Recurrent pharyngitis |
ORPHA:99825 |
Refractory Celiac Disease |
|
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... |
ORPHA:398063 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Unsteady gait, El... |
OMIM:612937 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Granulocytopenia, Reduced natural killer cell activity, Hemophagocytosis, Fev... |
OMIM:608898 |
Immunodeficiency 56 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Cholangitis, Bronchiectasis, R... |
OMIM:615207 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Eosinophilia, Monocytosis, Recurrent ear infections, Recurrent viral infections, Leukemia, Recurr... |
ORPHA:486 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis, Otitis media, Recurrent Haemophilus influenzae infections, Chr... |
OMIM:300455 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... |
OMIM:609456 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... |
ORPHA:399058 |
Hemorrhagic Fever-Renal Syndrome |
|
Subconjunctival hemorrhage, Acute tubulointerstitial nephritis, Elevated circulating creatinine c... |
ORPHA:340 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Asthma, Abnormal eosinophil morphology, Cough, Bronchiectasis, Pulmonary arterial hype... |
ORPHA:1164 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Abnormality of skeletal muscle ... |
ORPHA:2348 |
Immunodeficiency 67 |
|
Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections, L... |
OMIM:607676 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... |
OMIM:617780 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hypotension, Recurrent respiratory infections, Dehydration |
OMIM:264350 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pne... |
OMIM:619652 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... |
OMIM:619566 |
Bethlem Myopathy 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... |
OMIM:616471 |
Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Hypercholesterolemia, Intrinsic hand muscle atrophy, Incr... |
ORPHA:488650 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Nonproductive cough, Recurrent pneumonia, Atrial flutter, Reduced ejection fraction, Sy... |
ORPHA:980 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, Increased variability in muscle fiber diameter, EMG: myopathic abnormaliti... |
OMIM:614399 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia, Hypotension, Dehydration |
OMIM:203400 |
Immunodeficiency 21 |
|
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... |
OMIM:614172 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Aplasia of the thymus, Lymphopenia, Recurrent pneumonia, Reduced red... |
OMIM:102700 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Br... |
OMIM:615294 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
OMIM:300717 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Osteopenia, Rheumatoid f... |
ORPHA:85435 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Tachypnea, Hepatitis, Fasciitis, Skin rash, Recurr... |
ORPHA:36234 |
Congenital Enterovirus Infection |
|
Infectious encephalitis, Hydrops fetalis, Myocarditis, Hypotension, Pleural effusion, Polyhydramn... |
ORPHA:292 |
Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia |
OMIM:619281 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Osteoarthritis, Mildly elevated creatine kinase, Limited knee extension, Elevated circulating cre... |
OMIM:600969 |
Pgm3-Cdg |
|
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... |
ORPHA:443811 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Eosinophilia, Cutaneous abscess,... |
OMIM:147060 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... |
OMIM:618781 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in upper limbs, Abnormal lower motor neuron morphology, Skeletal muscle ... |
OMIM:613954 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... |
OMIM:614700 |
Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... |
OMIM:613496 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension |
OMIM:156310 |
Snakebite Envenomation |
|
Hyponatremia, Angioedema, Cardiogenic shock, Respiratory failure, Hypotension, Myocardial infarct... |
ORPHA:449285 |
Ovarian Hyperstimulation Syndrome |
|
Hypovolemia, Peripheral edema, Pleural effusion, Capillary leak, Ascites, Generalized edema, Pulm... |
ORPHA:64739 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Decreased circulating antibody level, Meningitis, Neutropenia, Ane... |
OMIM:616740 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... |
ORPHA:276435 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level, Disseminated nontuberculous myc... |
OMIM:300636 |
Tibial Muscular Dystrophy |
|
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... |
OMIM:254110 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
OMIM:236800 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive in infancy, Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide... |
OMIM:606367 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Hypoxemia, Crackles, Tachypnea, Hypertension, Nodu... |
ORPHA:79126 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent otitis media, Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronc... |
OMIM:616726 |
Scedosporiosis |
|
Abnormal respiratory system physiology, Severe infection, Invasive fungal infection, Fungal menin... |
ORPHA:449280 |
Felty Syndrome |
|
Episcleritis, Anemia, Recurrent urinary tract infections, Thrombocytopenia, Recurrent pneumonia, ... |
ORPHA:47612 |
Cholesterol Pneumonia |
|
Cyanosis, Tachypnea, Pneumonia, Cough |
OMIM:215030 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Cutaneous mastocytosis |
ORPHA:280785 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Leukocytosis, Pneumonia, Severe infection, Pan... |
ORPHA:544482 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... |
OMIM:618940 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Recurrent bacterial infections, Monocytopenia |
ORPHA:86788 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... |
ORPHA:206549 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... |
OMIM:615451 |
Primary Myelofibrosis |
|
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Cachexia, T... |
ORPHA:824 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Hypotensi... |
ORPHA:556030 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: ... |
OMIM:253601 |
Spontaneous Periodic Hypothermia |
|
Hypothermia, Skin rash |
ORPHA:29822 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... |
ORPHA:79127 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Hyperphosphatemia,... |
OMIM:145600 |
Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... |
OMIM:619473 |
Hypomagnesemia 2, Renal |
|
Chondrocalcinosis, Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Mercury Poisoning |
|
Hypokalemia, Interstitial pneumonitis, Hypotension, Respiratory failure, Dyspnea, Hypertension, R... |
ORPHA:330021 |
Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... |
OMIM:618695 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... |
OMIM:253240 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Recurrent pneumonia, Weight loss, Agammaglobulinemia, Arthritis, Thrombocytopenia, Men... |
ORPHA:47 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Rheumatoid factor po... |
ORPHA:79099 |
Chronic Beryllium Disease |
|
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... |
ORPHA:133 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... |
OMIM:615424 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... |
OMIM:619733 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... |
OMIM:613204 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia, Recurrent otitis media, Recurrent infections, Recurrent skin infections, Bronchiect... |
OMIM:618282 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Neutropenia, Anemia,... |
OMIM:617475 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia |
OMIM:601198 |
Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Palmoplantar pustulosis, Fever |
OMIM:259680 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... |
ORPHA:1878 |
Young Syndrome |
|
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... |
OMIM:279000 |
Bronchial Neuroendocrine Tumor |
|
Nonproductive cough, Pneumonia, Asthma, Cardiogenic shock, Hypotension, Dyspnea, Wheezing, Bronch... |
ORPHA:97287 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia, Hypotension, Dehydration |
OMIM:177735 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent otitis media, Recurrent pneumonia, Reduced forced expiratory volume in one second, Redu... |
OMIM:619436 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating cr... |
ORPHA:611 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Recurrent viral infections, A... |
OMIM:613179 |
Dengue Fever |
|
Hypoproteinemia, Gastrointestinal hemorrhage, Hypotension, Cardiorespiratory arrest, Ascites, Cer... |
ORPHA:99828 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Sclerosing cholangitis, Decreased circulating IgE, Increased cir... |
OMIM:308230 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Recurrent infections, Recurrent skin infections, Agammaglobulinemia, Arthritis, Cough,... |
ORPHA:33110 |
Mounier-Kühn Syndrome |
|
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis |
ORPHA:3347 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615504 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Ventricular tachycardia, Arrhythmia, Elevated circulating acylcarnitine concentration, ... |
ORPHA:159 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Recurrent upper respiratory tract infections, Pneumonia, Failure to thrive, Panhypogammaglobuline... |
OMIM:602450 |
Legionnaires Disease |
|
Restrictive ventilatory defect, Hyponatremia, Arrhythmia, Infectious encephalitis, Endocarditis, ... |
ORPHA:549 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis, Histiocytosis |
ORPHA:139436 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Elevated... |
OMIM:212138 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly |
OMIM:610539 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypereosinophi... |
ORPHA:2902 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Myopathy, Di... |
OMIM:610717 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Bronchiectasis, Recurrent respiratory infections, Persistent EBV viremia, Dec... |
OMIM:619126 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phosp... |
OMIM:610910 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... |
OMIM:233710 |
Bronchopulmonary Dysplasia |
|
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... |
ORPHA:70589 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Chronic ... |
OMIM:618254 |
Immunodeficiency 64 |
|
Decreased circulating IgG level, Recurrent infections, Increased circulating IgG level, Hepatospl... |
OMIM:618534 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Recurrent upper respiratory tract infections, T lymphocytopenia, Pneumoni... |
OMIM:600802 |
Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Honeycomb lung, Pulmonary insufficiency, Crackles, Cough, Br... |
ORPHA:2032 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Achilles tendon contracture, Increased endomysial connective tissue, Increased variability in mus... |
ORPHA:353 |
Scorpion Envenomation |
|
Hypokalemia, Acute pancreatitis, Premature ventricular contraction, Arrhythmia, Congestive heart ... |
ORPHA:466677 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy, Increased variability in... |
OMIM:258450 |
Renal Tubular Dysgenesis |
|
Respiratory insufficiency, Oligohydramnios, Hypotension, Pulmonary hypoplasia |
OMIM:267430 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Maculopa... |
ORPHA:98850 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Orthostatic hypotension, Elevated circulating creatinine conc... |
OMIM:223900 |
Immunodeficiency 27B |
|
Osteomyelitis, Recurrent mycobacterium avium complex infections, Salmonella osteomyelitis, Recurr... |
OMIM:615978 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Myopathy, Tubular Aggregate, 1 |
|
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... |
OMIM:160565 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Cardiac conduction abnormality, Pneumonia, Abnormality on pulmonary fu... |
ORPHA:97244 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Hypotension |
ORPHA:556037 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Immunodeficiency 23 |
|
Lymphopenia, Chronic mucocutaneous candidiasis, Molluscum contagiosum, Eczema, Hemolytic anemia, ... |
OMIM:615816 |
Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Angioedema, Maculopapular exanthema, Hypotension, Dys... |
ORPHA:79455 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesia, Recurre... |
OMIM:608644 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Thrombocytosis, Coombs-positive hemolytic anemia, E... |
OMIM:614034 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... |
OMIM:619042 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Elevated... |
ORPHA:90117 |
Whim Syndrome |
|
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... |
ORPHA:51636 |
Aspergillosis |
|
Hepatitis, Keratitis, Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Infectious ... |
ORPHA:1163 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Increased circulating antibody level, Systemic lupus erythematosus, Antinuclear antibody positivi... |
OMIM:178610 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Disseminated nontuberculous mycobacterial infection, Crackles, Cough, Pleural effusion, Bronchiec... |
ORPHA:411703 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... |
OMIM:603689 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... |
OMIM:610913 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... |
OMIM:233690 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... |
OMIM:618156 |
Myopathic Ehlers-Danlos Syndrome |
|
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... |
ORPHA:536516 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Hepatic steatosis, Flexion contracture, Decreased circulating Ig... |
OMIM:212065 |
Tularemia |
|
Leukocytosis, Pneumonia, Erythema nodosum, Cutaneous abscess, Inflammatory abnormality of the eye... |
ORPHA:3392 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Abnormal circulating interleukin concentration, Uveitis, Knee osteoarthritis, Abnor... |
ORPHA:85410 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Hypertriglyceridemia, Gout |
OMIM:610947 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anemia, Cachexia, Hypomagnesemia |
OMIM:175500 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Recurrent abscess formation, Failure to thrive in infancy, Anemia, Thrombocytopenia... |
ORPHA:79124 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Acute lymphoblastic leukemia |
OMIM:610738 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent infections, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... |
OMIM:150550 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... |
ORPHA:230 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
OMIM:300718 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss, Cough |
ORPHA:70482 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... |
OMIM:618138 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Membranoproliferative glomerulonephritis, Recurrent bacterial infections |
OMIM:613779 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased proport... |
OMIM:618394 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Hypotension, Dyspnea, Keratoconjunctivitis sicca, Respiratory insuf... |
ORPHA:178478 |
Hellp Syndrome |
|
Hypotension, Pleural effusion, Pulmonary edema, Cerebral hemorrhage, Generalized edema, Internal ... |
ORPHA:244242 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... |
OMIM:616924 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... |
ORPHA:169090 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... |
ORPHA:98849 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Failure to thrive, Eczematoid... |
OMIM:242700 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
Mitochondrial Myopathy, Infantile, Transient |
|
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased serum pyruvate, Increased muscle li... |
OMIM:500009 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent otitis media, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Recurrent pneumon... |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615505 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... |
ORPHA:86812 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
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Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Congenital Disorder Of Glycosylation, Type Iic |
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Reduction of neutrophil motility, Recurrent otitis media, Bronchiolitis, Pneumonia, Periodontitis... |
OMIM:266265 |
Ciliary Dyskinesia, Primary, 41 |
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Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis |
OMIM:618449 |
Mu-Heavy Chain Disease |
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Splenomegaly, Increased circulating antibody level, Anemia, Abnormal B cell count, Weight loss |
ORPHA:100024 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
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Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
Colchicine Poisoning |
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Hypovolemia, Hypokalemia, Hyponatremia, Arrhythmia, Congestive heart failure, Abnormal blood ion ... |
ORPHA:31824 |
Mogs-Cdg |
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Apnea, Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating Ig... |
ORPHA:79330 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
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Aspiration pneumonia |
OMIM:619477 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Recurrent pneumonia, Recurrent upper respiratory tract infections, Hyponatremia, Recurrent otitis... |
ORPHA:293978 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... |
OMIM:607765 |
Whipple Disease |
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Myositis, Hyponatremia, Gastrointestinal hemorrhage, Uveitis, Infectious encephalitis, Myocarditi... |
ORPHA:3452 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... |
OMIM:616100 |
Muscular Hypertonia, Lethal |
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Pneumonia |
OMIM:254120 |
Ciliary Dyskinesia, Primary, 29 |
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Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... |
OMIM:615872 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
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Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Recurrent ... |
OMIM:619752 |
Chylomicron Retention Disease |
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Hepatic steatosis, Increased hepatocellular lipid droplets, EMG: myopathic abnormalities, Failure... |
ORPHA:71 |
Congenital Muscular Dystrophy, Ullrich Type |
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Flexion contracture, Increased endomysial connective tissue, Increased variability in muscle fibe... |
ORPHA:75840 |
Myopathy, Myofibrillar, 7 |
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Achilles tendon contracture, Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Mul... |
OMIM:617114 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
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Increased variability in muscle fiber diameter, Scapular winging, Centrally nucleated skeletal mu... |
ORPHA:437572 |
X-Linked Lymphoproliferative Disease |
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Pancytopenia, Decreased circulating IgG level, Absent natural killer cells, Histiocytosis, Increa... |
ORPHA:2442 |
Agammaglobulinemia, X-Linked |
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Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... |
OMIM:300755 |
Hydroxykynureninuria |
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Hypotension, Breathing dysregulation, Abnormal circulating tryptophan concentration, Tachycardia,... |
ORPHA:79155 |
Primary Intestinal Lymphangiectasia |
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Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... |
ORPHA:90362 |
Interstitial Nephritis, Karyomegalic |
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Increased blood urea nitrogen, Tubulointerstitial nephritis, Elevated circulating creatinine conc... |
OMIM:614817 |
Histiocytoid Cardiomyopathy |
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Cyanosis, Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failur... |
ORPHA:137675 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... |
OMIM:615067 |
Immunodeficiency 89 And Autoimmunity |
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Crohn's disease, Increased circulating IgG level, Pleural thickening, Decreased eosinophil count,... |
OMIM:619632 |
Insulin Autoimmune Syndrome |
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Increased circulating antibody level, Weight loss, Arthralgia/arthritis |
ORPHA:411593 |
Halothane Hepatitis |
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Eosinophilia, Viral hepatitis, Hepatitis, Fever |
OMIM:234350 |
Myofibrillar Myopathy 11 |
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Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... |
OMIM:619178 |
Perry Syndrome |
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Hypotension, Central hypoventilation |
ORPHA:178509 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Myofibrillar myopathy, Loss of ability to walk, Increased variability in muscle fiber diameter, S... |
ORPHA:34516 |
Cryptogenic Organizing Pneumonia |
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Nonproductive cough, Restrictive ventilatory defect, Leukocytosis, Hypoxemia, Bronchial breath so... |
ORPHA:1302 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... |
ORPHA:486815 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
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Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Elevated circulating creatine ki... |
OMIM:603511 |
Gitelman Syndrome |
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Hypokalemia, Hypocalcemia, Chondrocalcinosis, Failure to thrive, Iron deficiency anemia, Hypermag... |
ORPHA:358 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Dilated cardiomyopathy, Congestive heart failure, Hypocalcemia, Sudden cardiac death, Hypocalcemi... |
ORPHA:73224 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Decreased body weight, Dysmetria, Spastic gait, Limb-girdle muscular dystro... |
ORPHA:96180 |
Macrophage Activation Syndrome |
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Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... |
ORPHA:158061 |
Leukocyte Adhesion Deficiency, Type Iii |
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Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Recurrent bacterial infections, Sple... |
OMIM:612840 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
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Decreased body weight, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pals... |
OMIM:300580 |
Ciliary Dyskinesia, Primary, 32 |
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Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... |
OMIM:616481 |
Sarcoidosis, Susceptibility To, 2 |
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Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... |
OMIM:612387 |
Cholera |
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Hypokalemia, Hypovolemic shock, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Tac... |
ORPHA:173 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Hepatic steatosis, Generalized amyotrophy, Increased variability in muscle fiber diameter, EMG: m... |
ORPHA:52430 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
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Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... |
OMIM:300991 |
Pleural Mesothelioma |
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Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... |
ORPHA:50251 |
Idiopathic Congenital Hypothyroidism |
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Hypothermia |
ORPHA:95717 |
Relapsing Fever |
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Elevated circulating creatinine concentration, Hypotension, Elevated circulating C-reactive prote... |
ORPHA:91547 |
Emphysema, Hereditary Pulmonary |
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Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Increased variability in muscle fiber diameter, Ataxia, Failure to thrive in infancy, Increased i... |
OMIM:619065 |
Microlissencephaly |
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Pneumonia |
ORPHA:1083 |
Necrotizing Enterocolitis |
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Hyponatremia, Peritonitis, Hypotension, Ascites, Bradycardia, Apnea, Edema, Shock |
ORPHA:391673 |
Central Core Disease Of Muscle |
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Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... |
OMIM:117000 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
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Eosinophilia, Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, K... |
OMIM:618523 |
Granulomatous Disease, Chronic, X-Linked |
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Liver abscess, Recurrent pneumonia, Rectal abscess, Recurrent E. coli infections, Cough, Osteomye... |
OMIM:306400 |
Ciliary Dyskinesia, Primary, 11 |
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Immotile cilia, Chronic rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasi... |
OMIM:612649 |
Hereditary Angioedema Type 1 |
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Pharyngeal edema, Hypotension, Dyspnea, Inspiratory stridor, Intestinal edema, Respiratory distre... |
ORPHA:100050 |
Tracheobronchomegaly |
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Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... |
OMIM:619466 |
Corticosteroid-Binding Globulin Deficiency |
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Hypotension, Hypertension |
OMIM:611489 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
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Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Internally nucl... |
OMIM:618654 |
Chromosome 5Q12 Deletion Syndrome |
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Hypotension |
OMIM:615668 |
Ullrich Congenital Muscular Dystrophy 1 |
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Flexion contracture, Congenital muscular dystrophy, Slender build, Muscle fiber necrosis, General... |
OMIM:254090 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... |
ORPHA:231154 |
Sepsis In Premature Infants |
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Increased circulating interleukin 6 concentration, Abnormal respiratory system physiology, Cyanos... |
ORPHA:90051 |
Peroxisome Biogenesis Disorder 3B |
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Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
Myopathy, Scapulohumeroperoneal |
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Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... |
OMIM:616852 |
Rheumatoid Arthritis |
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Joint stiffness, Rheumatoid factor positive, Polyarticular arthritis, Elevated circulating C-reac... |
OMIM:180300 |
Chylomicron Retention Disease |
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Decreased LDL cholesterol concentration, Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia,... |
OMIM:246700 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
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Chronic bronchitis, Bronchiectasis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
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Chronic bronchitis, Bronchiectasis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
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Chronic bronchitis, Bronchiectasis |
OMIM:211400 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... |
ORPHA:540 |
Scrub Typhus |
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Restrictive ventilatory defect, Infectious encephalitis, Hypotension, Cough, Myocarditis, Dyspnea... |
ORPHA:83317 |
Congenital Tricuspid Stenosis |
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Congestive heart failure, Tricuspid stenosis, Hypotension, Pulmonary arterial hypertension, Heart... |
ORPHA:95459 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Leukopenia, Thrombocytosis, Elevated circulating C-reactive protein concentration, Anemia, Failur... |
OMIM:615934 |
Meningococcal Meningitis |
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Infectious encephalitis, Hypotension, Elevated circulating C-reactive protein concentration, Neon... |
ORPHA:33475 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Increased blood urea nitrogen, Hypertension, Elevated circulating creatinine concentration |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Increased blood urea nitrogen, Hypertension, Elevated circulating creatinine concentration |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Increased blood urea nitrogen, Hypertension, Elevated circulating creatinine concentration |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Increased blood urea nitrogen, Hypertension, Elevated circulating creatinine concentration |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Increased blood urea nitrogen, Hypertension, Elevated circulating creatinine concentration |
OMIM:612926 |
Common Variable Immunodeficiency |
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Emphysema, Restrictive ventilatory defect, Pneumonia, Failure to thrive in infancy, Autoimmune th... |
ORPHA:1572 |
Slc35A1-Cdg |
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Pneumonia, Hypoxemia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutrope... |
ORPHA:238459 |
Congenital Isolated Acth Deficiency |
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Hypotension, Hyponatremia, Hepatitis |
ORPHA:199296 |
Beta-Ketothiolase Deficiency |
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Tachypnea, Hypotension, Cough, Hyperuricemia, Hypertension, Dehydration, Edema, Hyperammonemia |
ORPHA:134 |
Myopathy, Mitochondrial, And Ataxia |
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Multiple lipomas, Dysmetria, Dysdiadochokinesis, Anxiety, Increased variability in muscle fiber d... |
OMIM:617675 |
Immunodeficiency 58 |
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Recurrent aphthous stomatitis, Esophagitis, Chronic mucocutaneous candidiasis, Recurrent pneumoni... |
OMIM:618131 |
Ciliary Dyskinesia, Primary, 26 |
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Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... |
OMIM:615500 |
Abetalipoproteinemia |
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Hyperbilirubinemia, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrat... |
ORPHA:14 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Autoimmunity, Elevated circulating C-reactive protein concentration, Pericarditis, Anterior uveit... |
ORPHA:85414 |
Neuroleptic Malignant Syndrome |
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Hyponatremia, Arrhythmia, Hyperkalemia, Hypocalcemia, Pulmonary embolism, Hypotension, Dehydratio... |
ORPHA:94093 |
Tracheobronchopathia Osteochondroplastica |
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Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... |
ORPHA:3348 |
Leukocyte Adhesion Deficiency, Type I |
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Leukocytosis, Rectal abscess, Periodontitis, Recurrent bacterial infections, Recurrent staphyloco... |
OMIM:116920 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
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Cutaneous mastocytosis |
OMIM:248910 |
Kenny-Caffey Syndrome, Type 1 |
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Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... |
ORPHA:98855 |
Leishmaniasis |
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Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Increased circulating ant... |
ORPHA:507 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hypoproteinemia, Pneumonia, Ascites, Pulmonary embolism, Decreased circulating antibody level, Hy... |
OMIM:226300 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Blepharitis, Decreased LDL cholesterol concentration, Failure to thrive, Psoriasiform dermatitis,... |
OMIM:616834 |
Melioidosis |
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Pneumonia, Unusual skin infection, Lung abscess, Cutaneous abscess, Parotitis, Splenic abscess, P... |
ORPHA:31202 |
Ciliary Dyskinesia, Primary, 16 |
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Pulmonary insufficiency, Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis med... |
OMIM:614017 |
Atrial Septal Defect, Ostium Secundum Type |
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Left-to-right shunt, Bundle branch block, Increased pulmonary vascular resistance, Atrial fibrill... |
ORPHA:99103 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Sinusitis, T lymphocytopenia, Pneumonia, Chronic bronchitis, Increased circulating IgM level, Dec... |
OMIM:242860 |
Lujo Hemorrhagic Fever |
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Subconjunctival hemorrhage, Nonproductive cough, Cerebral edema, Crackles, Maculopapular exanthem... |
ORPHA:319213 |
Mastocytosis |
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Gastrointestinal hemorrhage, Arrhythmia, Hypercalcemia, Asthma, Angioedema, Hypotension, Cough, T... |
ORPHA:98292 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
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Dysmetria, Dysdiadochokinesis, Increased intramyocellular lipid droplets, Anxiety, Increased vari... |
ORPHA:502423 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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Muscle fiber hypertrophy, Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, A... |
ORPHA:98905 |
Interstitial Lung Disease 1 |
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Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... |
OMIM:619611 |
Azotemia, Familial |
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