Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... |
OMIM:613501 |
Mannose-Binding Lectin Deficiency |
|
Failure to thrive, Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningoc... |
OMIM:614372 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Recurrent... |
OMIM:616022 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Abnormal blood gas level, Increased circulating i... |
ORPHA:70578 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... |
ORPHA:70592 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Cyanosis, Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, R... |
ORPHA:70587 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... |
ORPHA:542323 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... |
OMIM:300310 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections, Fever |
ORPHA:183713 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:613500 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... |
OMIM:618963 |
Immunodeficiency 48 |
|
Recurrent candida infections, Failure to thrive, Eczematoid dermatitis, Splenomegaly, Panhypogamm... |
OMIM:269840 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:613502 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613494 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss |
ORPHA:64741 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphoc... |
OMIM:601457 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... |
OMIM:312863 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... |
OMIM:613493 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:612692 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infections, E... |
OMIM:202700 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema, Edema |
OMIM:178400 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
Immunodeficiency 52 |
|
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... |
OMIM:617514 |
Immunodeficiency 104 |
|
Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocytopenia, Chroni... |
OMIM:608971 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... |
ORPHA:275 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Cirrhotic Cardiomyopathy |
|
Pulmonary edema, Abnormal A-type atrial natriuretic peptide level, Third heart sound, Increased c... |
ORPHA:57777 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Decreased circul... |
OMIM:243700 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Fever, Neutropenia |
OMIM:162800 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Chondrocalcinosis, Multiple lipomas, Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Decreased circul... |
OMIM:300400 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... |
OMIM:247800 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Cellulitis, Hepatosplenomegaly, Thrombocyt... |
OMIM:604416 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Increased circulating antibody level, Chronic oral candidiasis, Dec... |
ORPHA:169160 |
Systemic Capillary Leak Syndrome |
|
Pulmonary edema, Pancreatitis, Arrhythmia, Myocarditis, Hypotension, Cough, Pedal edema, Pleural ... |
ORPHA:188 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea |
OMIM:267450 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopapular exanthema, Mastocytosis, In... |
ORPHA:98848 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
Primary Erythromelalgia |
|
Hypothermia, Leukemia |
ORPHA:90026 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Asthma, Atopic ... |
ORPHA:217390 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infections, Pneumoni... |
ORPHA:276 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hemothorax, Cyanosis, Right ventricular failure,... |
ORPHA:199241 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... |
OMIM:613860 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammagl... |
OMIM:601495 |
Wild Type Attr Amyloidosis |
|
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal pulmo... |
ORPHA:330001 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Failure to thrive, Recurrent fungal infections, Colitis, Viral he... |
OMIM:209920 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... |
ORPHA:36238 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Cyanosis, Hypotension, Shortened PR interval, Ascites, Cardiomyopathy, Congestiv... |
OMIM:261740 |
Immunodeficiency 32B |
|
Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... |
OMIM:226990 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, P... |
ORPHA:75249 |
Idiopathic Achalasia |
|
Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss |
ORPHA:930 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Nemaline Myopathy 2 |
|
Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber diameter... |
OMIM:256030 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Neutropenia, Recurrent bacterial infections, Monocytosi... |
ORPHA:2688 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... |
ORPHA:60033 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Reticular Dysgenesis |
|
Failure to thrive, Skin rash, Anemia, Sepsis, Leukopenia, Chronic otitis media, Abnormality of ne... |
ORPHA:33355 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Elevated ci... |
OMIM:601954 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... |
OMIM:300988 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... |
OMIM:608184 |
Caspase 8 Deficiency |
|
Asthma, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG level, Sple... |
OMIM:607271 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B ce... |
OMIM:619693 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome... |
OMIM:619220 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, Inability to walk, EMG: myopathic abnormalities, Increase... |
ORPHA:266 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia |
OMIM:615561 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
Tuberculosis |
|
Abnormal lung morphology, Weight loss, Cough |
ORPHA:3389 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Elevated circulat... |
OMIM:618655 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Immunodeficiency 102 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym... |
OMIM:301082 |
Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... |
ORPHA:723 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Asthma, Atopic dermatitis, Eosinophilia, Pneumonia |
OMIM:617638 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent infec... |
OMIM:618982 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:606843 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Lymphatic Malformation 7 |
|
Respiratory distress, Facial edema, Pulmonary edema, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia |
OMIM:300299 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Hypoa... |
OMIM:209950 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Chondrocalcinosis, Multiple lipomas, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Recurrent infections, Chronic bronchitis, Pneumonia |
OMIM:614069 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... |
OMIM:616873 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... |
ORPHA:183675 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Left bundle branch block, Pulmonary edema, Congestive heart failure, Sudden... |
OMIM:115197 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestin... |
OMIM:618108 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... |
OMIM:616005 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia |
ORPHA:517 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decrease... |
ORPHA:331206 |
Omenn Syndrome |
|
Failure to thrive, Recurrent fungal infections, Splenomegaly, Recurrent bacterial infections, Hyp... |
OMIM:603554 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Skin rash, Otitis media, Sepsis, Abnormal lymphocyte morphology, Ar... |
ORPHA:229717 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Recurrent skin infections, Thrombocytopenia, Recurrent sinusitis, ... |
OMIM:616576 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Neuromuscular dysphagia, Flexion contracture, EMG: myopathic abnormalities, Incr... |
ORPHA:171442 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Decreased circulating total IgM, Fulminant hepatitis, Cholangitis... |
OMIM:242850 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Malar rash,... |
ORPHA:231111 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Tachycardia, Crackles, Elevated carcinoembryonic anti... |
ORPHA:264675 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Pulmonary edema, Gastritis, Episodic respiratory distress, Cyanosis, Tachycardia, A... |
ORPHA:31826 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia |
OMIM:613845 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Increased variability in muscle fiber diameter, Increased connective ti... |
ORPHA:238329 |
Familial Hypocalciuric Hypercalcemia |
|
Lipoma, Renal hypophosphatemia, Chondrocalcinosis, Hypercalcemia, Hypermagnesemia, Infantile hype... |
ORPHA:405 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Bronchiectasis, Airway obstruction, Reduced FEV1/... |
ORPHA:1303 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, Severe... |
OMIM:618986 |
Nipah Virus Disease |
|
Respiratory distress, Hypotension, Cough, Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... |
OMIM:307200 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Immunodeficiency 89 And Autoimmunity |
|
Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating ... |
OMIM:619632 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Slender build, Neuromuscular dysphagia, Flexion contracture, EM... |
ORPHA:171439 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Ciliary Dyskinesia, Primary, 9 |
|
Bronchiectasis, Chronic otitis media, Cough, Recurrent sinusitis, Chronic rhinitis, Chronic sinus... |
OMIM:612444 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Recurrent infection of the gastrointestinal tract, Rhinitis, Lymphopenia, Recurren... |
ORPHA:486 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Myocardial infarction... |
ORPHA:90068 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Elevated circulating creatinine concentration, Pneumonia, Respirato... |
ORPHA:340 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Lipoatrophy, Skeletal muscle hypertrophy, Splenomegaly, Cirrhosis, Ma... |
ORPHA:79083 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:300636 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Fever, Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activi... |
OMIM:608898 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... |
OMIM:612937 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Dehydration, Hypotension, Hyponatremia, Hyperkalemia, Recurrent respiratory infections |
OMIM:264350 |
Immunodeficiency 56 |
|
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... |
OMIM:615207 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... |
OMIM:607676 |
Immunodeficiency 13 |
|
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... |
OMIM:615518 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... |
OMIM:253601 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Cellulitis, Skeletal muscle hypertrophy, Splenomegaly, Lipoatrophy, A... |
ORPHA:2348 |
Bethlem Myopathy 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... |
OMIM:616471 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia |
OMIM:203400 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Absence Of The Pulmonary Artery |
|
Pulmonary edema, Systolic heart murmur, Nonproductive cough, Cyanosis, Tachycardia, Orthopnea, Re... |
ORPHA:980 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, Failure to thrive, EMG: myopathic abnormalities, Diaphragmatic eventration... |
OMIM:614399 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... |
OMIM:102700 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Sept... |
ORPHA:36234 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... |
OMIM:300717 |
Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Progressive joint destruction, Limitation of joint mobility, Elevated circulating... |
ORPHA:85435 |
Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Hyperammonemia, Hydrops fetalis, Myocarditis, Hypotension, Polyh... |
ORPHA:292 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Loss of ambulation, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weaknes... |
OMIM:619566 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Recurrent oral h... |
OMIM:619652 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Delayed epiphyseal ossification, Osteoarthritis, Elevated circulating creatine kinase concentrati... |
OMIM:600969 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Sepsis, Eczema, Chronic sinusitis, Recurrent viral i... |
ORPHA:443811 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... |
ORPHA:276435 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Recurrent fungal infections, Eczematoid dermatitis, Skin rash, Eosinophilia, C... |
OMIM:147060 |
Snakebite Envenomation |
|
Respiratory paralysis, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cere... |
ORPHA:449285 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... |
OMIM:618781 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... |
OMIM:254110 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Cutaneous mastocytosis |
ORPHA:280785 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... |
OMIM:613496 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... |
OMIM:614700 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Ascites, Cap... |
ORPHA:64739 |
Felty Syndrome |
|
Sepsis, Weight loss, Pericarditis, Rhinitis, Splenomegaly, Recurrent urinary tract infections, Ar... |
ORPHA:47612 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Depression, Increased var... |
OMIM:613954 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... |
OMIM:606367 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Acute colitis, Pancreatitis, Leukocytosis, Sev... |
ORPHA:544482 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Dehydration, Hypotension, Increased circulating renin level, Hyponatremi... |
ORPHA:556030 |
Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... |
ORPHA:824 |
Mercury Poisoning |
|
Respiratory distress, Hypokalemia, Interstitial pneumonitis, Tachycardia, Hypotension, Dyspnea, H... |
ORPHA:330021 |
Spontaneous Periodic Hypothermia |
|
Hypothermia, Skin rash |
ORPHA:29822 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Hyperphosphatemia, ... |
OMIM:145600 |
Ciliary Dyskinesia, Primary, 23 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615451 |
Scedosporiosis |
|
Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure... |
ORPHA:449280 |
Cholesterol Pneumonia |
|
Cyanosis, Cough, Pneumonia, Tachypnea |
OMIM:215030 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Re... |
OMIM:618048 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infe... |
OMIM:618495 |
Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased endomysial connective tissue, Flexion contracture of finger, Proximal muscle weakness i... |
ORPHA:206549 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension |
OMIM:156310 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Anemia, Sepsis, Chronic otitis media, Art... |
ORPHA:47 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... |
OMIM:212138 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T... |
ORPHA:133 |
Hypomagnesemia 2, Renal |
|
Chondrocalcinosis, Hypomagnesemia, Hypokalemia |
OMIM:154020 |
Oculopharyngodistal Myopathy 3 |
|
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... |
OMIM:619473 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Decreased circulating IgA level, Splenomegaly, Sclerosing chol... |
OMIM:308230 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Severe infection, Sepsis, Meningitis, Pneum... |
ORPHA:464370 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media |
OMIM:300455 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... |
OMIM:618695 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... |
OMIM:615424 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid arthritis, Inflammatory abnormality of the skin, Elevated circulating C-reactive prote... |
ORPHA:79099 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Reticulonodular pattern on pulmonary HRCT,... |
ORPHA:79126 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent skin infections, Eczema, Atopic dermatitis, Eosinophilia, Chronic mucocutaneous candidi... |
OMIM:618282 |
Dengue Fever |
|
Cerebral hemorrhage, Hypoproteinemia, Skin rash, Hypotension, Cardiorespiratory arrest, Gastroint... |
ORPHA:99828 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Bronchial Neuroendocrine Tumor |
|
Asthma, Tricuspid regurgitation, Nonproductive cough, Right ventricular failure, Palpitations, Ca... |
ORPHA:97287 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia |
OMIM:177735 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... |
OMIM:613179 |
Young Syndrome |
|
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... |
OMIM:279000 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Elevated circulating creatine kinase concentra... |
ORPHA:611 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... |
ORPHA:1878 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... |
OMIM:613490 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... |
OMIM:613204 |
Ciliary Dyskinesia, Primary, 21 |
|
Bronchiectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis medi... |
OMIM:615294 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... |
ORPHA:159 |
Specific Granule Deficiency 2 |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, Sepsis, Thrombocytopenia, Recurre... |
OMIM:617475 |
Legionnaires Disease |
|
Pancreatitis, Respiratory insufficiency, Arrhythmia, Endocarditis, Myocarditis, Abnormal pleura m... |
ORPHA:549 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Decreased circulating IgA level, Hyperinsulinemia, Hepatomegaly, Flexion contr... |
OMIM:613327 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated ci... |
OMIM:300718 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia, Arthritis |
ORPHA:139436 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly |
OMIM:610539 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chroni... |
ORPHA:33110 |
Ciliary Dyskinesia, Primary, 27 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615504 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Eczematoid dermatitis, Recurrent bronchopulmonary infections, Lymphopenia, Pyo... |
OMIM:242700 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia |
ORPHA:3347 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... |
OMIM:610910 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:233710 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Persistent EBV viremia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... |
ORPHA:98850 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Failure to thrive, Lymphopenia, Recurrent upper respiratory tract infections, Panhypogammaglobuli... |
OMIM:600802 |
Ciliary Dyskinesia, Primary, 39 |
|
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... |
OMIM:618254 |
Scorpion Envenomation |
|
Bundle branch block, Hypokalemia, Pulmonary edema, Premature ventricular contraction, ST segment ... |
ORPHA:466677 |
Immunodeficiency 64 |
|
Failure to thrive, Increased circulating IgA level, Decreased circulating IgG level, Splenomegaly... |
OMIM:618534 |
Renal Tubular Dysgenesis |
|
Respiratory insufficiency, Oligohydramnios, Pulmonary hypoplasia, Hypotension |
OMIM:267430 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans, Maculopapular exanthema, ... |
ORPHA:79455 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent bronchitis, Cili... |
OMIM:616726 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Recurrent infections due to aspiration, Orthostatic hypotension, T... |
OMIM:223900 |
Idiopathic Pulmonary Fibrosis |
|
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... |
ORPHA:2032 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Broad-based gait, Increased endomysial connective tissue, Tip-toe gait, Right ventricular hypertr... |
ORPHA:353 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... |
OMIM:615978 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:556037 |
Immunodeficiency 23 |
|
Eczema, Abscess, Increased circulating IgG level, Severe varicella zoster infection, Increased ci... |
OMIM:615816 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly |
ORPHA:52416 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Abnormality on pulmonary function testing, Cardiac conduction abnormal... |
ORPHA:97244 |
Ciliary Dyskinesia, Primary, 3 |
|
Bronchiectasis, Recurrent sinusitis, Ciliary dyskinesia, Recurrent otitis media, Neonatal respira... |
OMIM:608644 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Mycobacterium abscessus abscessus infection,... |
ORPHA:411703 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss, Cough |
ORPHA:70482 |
Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Leukocytosis, Nonproductive cough, Atopic dermatitis, Crackles, Wheezing, Weight loss, Hy... |
ORPHA:2902 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymphopenia, Otitis media, Splenomegaly, Aplasia of the thymus, Sepsis, Recurr... |
OMIM:602450 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Loss of ambulation, Increased endomysial connective tissue, Flexion contra... |
OMIM:253700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:233690 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Anemia |
OMIM:175500 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Osteoporosis, Gout, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610947 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Elevated circulating creatine kinase concentration, Cough, Respiratory fail... |
ORPHA:90117 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Aspergillosis |
|
Keratitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Abnormality on pulmonary func... |
ORPHA:1163 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Orthostatic hypotension, Dehydration, Syncope, Orthostatic syncope... |
ORPHA:230 |
Tularemia |
|
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med... |
ORPHA:3392 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Rheumatoid arthritis, Abnormality of the ankles, Abnormal circulating interleukin... |
ORPHA:85410 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Failure to thrive, Joint contracture of the hand, Tip-toe gait, Flex... |
ORPHA:536516 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular failure, Abnormal r... |
ORPHA:70589 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Pulmonary hemorrhage, Panhypogammaglobulinemia, Pancytopenia, Recurren... |
ORPHA:79124 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Neutropenia, Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thr... |
OMIM:150550 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Small... |
OMIM:618484 |
Infant Botulism |
|
Xerostomia, Chronic otitis media, Hypotension, Hyponatremia, Dyspnea, Hypertension, Keratoconjunc... |
ORPHA:178478 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Hypotension, Internal hemorrhage, Pleural effusion, General... |
ORPHA:244242 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... |
OMIM:266265 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Fever, Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferativ... |
ORPHA:98849 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections |
OMIM:253240 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
Whim Syndrome |
|
Sinusitis, Neutropenia, Lymphopenia, Otitis media, Sepsis, Recurrent bacterial infections, Recurr... |
ORPHA:51636 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... |
ORPHA:169090 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... |
OMIM:616924 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... |
OMIM:618138 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Myocarditis, Increased proportion of CD25+ ... |
ORPHA:2442 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Lymp... |
OMIM:619752 |
Colchicine Poisoning |
|
Respiratory distress, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, D... |
ORPHA:31824 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia |
ORPHA:100024 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration, Breathing dysregulation,... |
ORPHA:79155 |
Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... |
OMIM:611884 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic f... |
OMIM:607765 |
Whipple Disease |
|
Respiratory insufficiency, Myositis, Myocarditis, Hypotension, Arthritis, Pleuritis, Myocardial i... |
ORPHA:3452 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent otitis media, Recurrent upper respiratory tract infections, Hypotension, Recurrent sinu... |
ORPHA:293978 |
Ciliary Dyskinesia, Primary, 28 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media |
OMIM:618449 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia, Failure to thrive |
OMIM:609528 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Ataxia, Decreased circulating IgA level, Decreased circulating IgG level, Hepa... |
OMIM:212065 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re... |
OMIM:615139 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Decreased circulating IgA level, Pulmonary edema, Decreased circulat... |
ORPHA:79330 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Pulmonary edema, Cyanosis, Tachycar... |
ORPHA:137675 |
Mitochondrial Myopathy, Infantile, Transient |
|
Failure to thrive, Increased muscle glycogen content, Hepatomegaly, Macroglossia, Increased serum... |
OMIM:500009 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Increased endomysial connective tissue, Scapular winging, Increased variability in muscle fiber d... |
ORPHA:437572 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, EMG: myopathic abnormalities, Elevated hepatic transaminase, Hypo... |
ORPHA:71 |
Cholera |
|
Hypokalemia, Hypocalcemia, Hypovolemic shock, Aspiration pneumonia, Dehydration, Tachycardia, Hyp... |
ORPHA:173 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, S... |
OMIM:616100 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... |
OMIM:611615 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Elevated circulating creatinine concentration, Increased blood urea... |
OMIM:614817 |
Perry Syndrome |
|
Central hypoventilation, Hypotension |
ORPHA:178509 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss, Arthralgia/arthritis |
ORPHA:411593 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Neutrophilia, Hypoxemia, Leukocytosis, Nonproductive cough, Crackles, Wheez... |
ORPHA:1302 |
Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Muscle fiber atrophy, Limb ataxia, Emotional lability, Weakness of facial ... |
OMIM:258450 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... |
OMIM:300755 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Anemia, Reduced proportion of CD4+ ef... |
ORPHA:90362 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Cough, Increased... |
ORPHA:91547 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Loss of ambulation, Flexion contracture, Rimmed vacuoles, Elevated circulating creatine kinase co... |
OMIM:603511 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Gitelman Syndrome |
|
Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia, Chondrocalcinosis, Iron deficiency ... |
ORPHA:358 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Ataxia, Decreased body weight, Dysmetria, Depression, Abetalipoproteinemia, Elevated circulating ... |
ORPHA:96180 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Avian Influenza |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Conjunctivitis, Nonp... |
ORPHA:454836 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemia, Pulmonary edema, Sudden cardiac death, Hypocalcemic tetany, Dilated... |
ORPHA:73224 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Abnormal pulmonary interstitial morphology, Pneumothorax, Pulmonary arterial hype... |
OMIM:612387 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... |
ORPHA:34516 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Recurrent skin infections, Extramedullary hematopoiesis, Recurrent ba... |
OMIM:612840 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal lung morphology, Pleural effusi... |
ORPHA:50251 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... |
ORPHA:158061 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:95717 |
Necrotizing Enterocolitis |
|
Apnea, Peritonitis, Hypotension, Shock, Hyponatremia, Edema, Ascites, Bradycardia |
ORPHA:391673 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... |
OMIM:300580 |
Rigid Spine Muscular Dystrophy 1 |
|
Failure to thrive, Loss of ambulation, Increased endomysial connective tissue, Decreased body wei... |
OMIM:602771 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent respiratory ... |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... |
OMIM:616481 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Eczema, Eosinophilia, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... |
OMIM:618523 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Intestinal edema, Pharyngeal edema, Facial edema, Tongue edema, Hypotension... |
ORPHA:100050 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Decreased circulating total IgM, Interstitial pne... |
OMIM:614878 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
ORPHA:540 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variabili... |
ORPHA:52430 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Ataxia, Increased variability in muscle fiber diameter... |
OMIM:619065 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Increased variability in muscle fib... |
OMIM:619790 |
Tracheobronchomegaly |
|
Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:275300 |
Scrub Typhus |
|
Skin rash, Hypotension, Cough, Myocarditis, Anterior uveitis, Infectious encephalitis, Restrictiv... |
ORPHA:83317 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Sepsis, Interstitial pneumoni... |
ORPHA:231154 |
Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Skin rash, Hypotension, Shock, Infectious ... |
ORPHA:33475 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia... |
OMIM:615934 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Recurrent sinusitis, Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Ne... |
OMIM:612649 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Beta-Ketothiolase Deficiency |
|
Hyperammonemia, Dehydration, Hypotension, Tachypnea, Cough, Hyperuricemia, Edema, Hypertension |
ORPHA:134 |
Congenital Isolated Acth Deficiency |
|
Hypotension, Hepatitis, Hyponatremia |
ORPHA:199296 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, Slender build, Failure to thrive, Flexion contracture, Increa... |
OMIM:254090 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
Rheumatoid Arthritis |
|
Joint stiffness, Joint swelling, Elevated circulating C-reactive protein concentration, Rheumatoi... |
OMIM:180300 |
Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Aspiration pneumonia, Dehydration, Elevated circulating creatine ki... |
ORPHA:94093 |
Slc35A1-Cdg |
|
Respiratory distress, Neutropenia, Pulmonary hemorrhage, Giant platelets, Pneumonia, Hypoxemia, T... |
ORPHA:238459 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
Common Variable Immunodeficiency |
|
Lymphopenia, Otitis media, Splenomegaly, Autoimmune thrombocytopenia, Chronic otitis media, Failu... |
ORPHA:1572 |
Immunodeficiency 58 |
|
Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac... |
OMIM:618131 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... |
OMIM:615067 |
Abetalipoproteinemia |
|
Ataxia, Hepatomegaly, Steatorrhea, Broad-based gait, Abnormal circulating apolipoprotein concentr... |
ORPHA:14 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Depression, Dysdiadochokinesis, Elevated circu... |
OMIM:617675 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98855 |
Leishmaniasis |
|
Increased circulating antibody level, Splenomegaly, Anemia, Leukopenia, Abnormal macrophage morph... |
ORPHA:507 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Oligohydramnios, Hypotension |
OMIM:618480 |
Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Osteomyelitis, Leukocytosis, Recurrent bacterial infections, Recurrent staphylococ... |
OMIM:116920 |
Ciliary Dyskinesia, Primary, 26 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615500 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Decreased circulating IgA level, Sinusitis, Chronic bronchitis, T lymphocytope... |
OMIM:242860 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Elevated circulating C-reactive protein concentration, Skin rash, Juvenile rheuma... |
ORPHA:85414 |
Granulomatous Disease, Chronic, X-Linked |
|
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid der... |
OMIM:306400 |
Mastocytosis |
|