Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I, Membranoprolifer... |
OMIM:613652 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, ... |
OMIM:617006 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme... |
ORPHA:567544 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Membranoprolifer... |
OMIM:613779 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Pneumonia, Autoimmune hemolytic anemia |
OMIM:247800 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Kimura Disease |
|
Abnormal salivary gland morphology, Increased circulating IgE level, Lymphadenopathy, Follicular ... |
ORPHA:482 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Immunodeficiency 64 |
|
Anti-thyroid peroxidase antibody positivity, Defective T cell proliferation, Mediastinal lymphade... |
OMIM:618534 |
Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Nephrotic syndrome, Lymphadenitis, Lymphadenopathy, Rheumatoid factor positive, Recurrent... |
OMIM:618935 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, L... |
OMIM:619220 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmunity, Abnormal B cell count, Decreased circulating antibody level, Decreased proportion o... |
ORPHA:331206 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmunity, Abnormal intestine morphology, Lymphadenopathy, Recurrent otitis media, Splenomegal... |
OMIM:618495 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Nephrotic syndrome, Stomatitis, Lymphadenitis, Pneumonia, Chronic oral candidiasis, Decreased lym... |
ORPHA:911 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Decreased specific pneumococcal antibody level, Mesangial ... |
OMIM:613496 |
Immunodeficiency 25 |
|
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an... |
ORPHA:90283 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Hypoplasia of the corpus ca... |
OMIM:619466 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Celiac disease, Lymphadenopathy, Systemic lupus erythematosus, Splenomegaly, Autoimmune thrombocy... |
OMIM:619375 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Bronchiectasis, Lymphadenopathy, Recurrent otitis media, Increased c... |
OMIM:618982 |
Complement Component 4A Deficiency |
|
Decreased serum complement C4, Reduced hemolytic complement activity, Glomerulonephritis, Systemi... |
OMIM:614380 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Lymphadenopathy, Recurrent cutan... |
ORPHA:499 |
Asbestos Intoxication |
|
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... |
ORPHA:2302 |
Selective Igm Deficiency |
|
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Ly... |
ORPHA:331235 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Lymphadenopathy, Rheumatoid factor positive, Chronic kidney disease... |
ORPHA:449395 |
Autoimmune Lymphoproliferative Syndrome |
|
Platelet antibody positive, Follicular hyperplasia, Neutropenia in presence of anti-neutropil ant... |
OMIM:601859 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis, Complement deficiency |
OMIM:216950 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Hyper-Igd Syndrome |
|
Increased circulating IgD level, Vomiting, Lymphadenitis, Increased circulating IgA level, Chroni... |
OMIM:260920 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... |
OMIM:613953 |
C3 Glomerulopathy |
|
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ... |
ORPHA:329918 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Intrauterine growth retardation, Redundant skin, Neonatal death |
OMIM:301021 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Tubulointerstitial Nephritis With Uveitis |
|
Reversible renal failure, Circulating immune complexes, Anterior uveitis, Panuveitis, Abnormality... |
OMIM:607665 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Hematuria, Glomerulonephritis |
OMIM:314000 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal salivary gland morphology, Autoimmunity, Cholangitis, Prostatitis, Xerostomia, Abnormal ... |
ORPHA:449432 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ... |
OMIM:608106 |
C3 Glomerulopathy 3 |
|
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis |
OMIM:614809 |
Rat-Bite Fever |
|
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Arthri... |
ORPHA:31205 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Death in infancy, Desquamative interstitial pneumonitis, Nonspecif... |
OMIM:610921 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Systemic lupus erythematosus, Nephritis, Arthritis, Malar rash, An... |
OMIM:152700 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Systemic lupus erythe... |
ORPHA:90280 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Subpleural honeycombing, Crackles, Bronchie... |
ORPHA:79126 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Villous atrophy, Erythroderma, Lymp... |
OMIM:304790 |
Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Salmonella osteomyelitis, Rheumatoid ... |
OMIM:209950 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:607271 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Sinusitis, Inflammatory abnormality of... |
ORPHA:277 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Death in infancy, Desquamative interstitial pneumonitis, Tachypnea... |
OMIM:265120 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... |
OMIM:618944 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Septic arthritis |
OMIM:612260 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lymphadenitis |
ORPHA:90156 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Follicular hyperplasia, Bronchiectasis, Decreased circulating IgA level, Impaired T... |
OMIM:240500 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Abnormal oral mucosa morphology... |
ORPHA:79147 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage fluid lymphocy... |
OMIM:610978 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617609 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, Oral ulcer, Diarrhea |
OMIM:608971 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Abnormal serum interleukin level, Pneumonia |
ORPHA:319552 |
Neutropenia, Chronic Familial |
|
Periodontitis, Gingivitis, Premature loss of teeth, Increased circulating antibody level |
OMIM:162700 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Cerebral dysmyel... |
OMIM:611722 |
Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... |
OMIM:615872 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Intrauterine growth retardation, Atelectasis, Transient pulmonary infiltrate... |
ORPHA:70588 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... |
ORPHA:2902 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
ORPHA:3261 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Sclerosing cholangitis, Antineutrophil antibody positivity, ... |
ORPHA:2137 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... |
OMIM:606843 |
Actinic Prurigo |
|
Cheilitis, Glomerulonephritis, Pyoderma |
OMIM:174770 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Erythroderma, Lymphadenopathy, Increased circulating IgA level, Decreased lymphocyte... |
ORPHA:169154 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Polycystic ovaries, Decreased serum complement C3, Membranoprolife... |
OMIM:608709 |
Slc35A1-Cdg |
|
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis |
ORPHA:238459 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Lymphadenitis, Lymphadenopathy, Discoid lupus rash, Osteomyelitis, Splenom... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Eczematoid dermatitis, Lymphadenitis, Lymphadenopathy, Discoid lupus rash, Osteomyelitis, Splenom... |
OMIM:233710 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Decreased circulating total IgA, Pneumonia, Protracted diarrhea, Chronic oral candi... |
ORPHA:169160 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
High, narrow palate, Glomerulonephritis, High palate, Renal insufficiency |
OMIM:248760 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Lymphadenopathy... |
OMIM:616100 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Diarrhea |
OMIM:269840 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph... |
OMIM:613913 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Death in infancy, Lymphadenitis, Anemia, Acute kidney injury, Congenital thrombocyt... |
OMIM:618886 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Cough, Recurrent lowe... |
OMIM:616726 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Cyanosis, Respiratory tract infection, Pulmonary edema, Respirat... |
ORPHA:70587 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
Granulomatous Disease, Chronic, X-Linked |
|
Eczematoid dermatitis, Lymphadenitis, Lymphadenopathy, Discoid lupus rash, Osteomyelitis, Splenom... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Eczematoid dermatitis, Lymphadenitis, Lymphadenopathy, Discoid lupus rash, Osteomyelitis, Splenom... |
OMIM:233690 |
Pulmonary Blastoma |
|
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma |
ORPHA:64741 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Death in infancy, Intermittent diarrhea, Nephrotic syndrome, Monocytosis, Lymphaden... |
OMIM:619644 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Severe Combined Immunodeficiency, X-Linked |
|
Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Hypoplasia of the thymus, Chronic... |
OMIM:300400 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Intrauterine growth retardation, Growth delay, Severe short statur... |
OMIM:619057 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... |
OMIM:267450 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Cyanosis, Recurren... |
OMIM:263000 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Decreased circul... |
OMIM:607594 |
Rowley-Rosenberg Syndrome |
|
Growth delay, Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Recurrent pne... |
OMIM:268500 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, Lymphadenopathy, Hepatosplenomegaly, Hemolytic anemia, Enlarged tonsils, Autoimmune hemol... |
OMIM:606367 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Increased circulating IgA level, Rheumatoid factor positive, Increased circulatin... |
OMIM:619632 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Dysphagia, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, P... |
ORPHA:449427 |
Lymphatic Filariasis |
|
Lymphangiectasis, Vaginal hydrocele, Nephrotic syndrome, Lymphadenitis, Lymphadenopathy, Knee ost... |
ORPHA:2035 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis, High palate |
ORPHA:2172 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
IgA deposition in the glomerulus, Systemic lupus erythematosus, Increased circulating antibody le... |
OMIM:178610 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
Complement Factor I Deficiency |
|
Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Arthritis... |
OMIM:610984 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Abnormal intestine morphology, Eczema,... |
ORPHA:37042 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Diarrhea, Jaundice, Absent tonsils, Lymph node hypo... |
ORPHA:276 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood, Microcephaly, Severe short stature |
OMIM:302000 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Pityriasis Rubra Pilaris |
|
Abnormal oral cavity morphology, Eczema, Erythroderma, Pustule, Pruritus |
ORPHA:2897 |
Igg4-Related Thyroid Disease |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Dysphagia, Goiter, Nodular goiter, Inc... |
ORPHA:64744 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... |
OMIM:613494 |
Transcobalamin Deficiency |
|
Neutropenia, Abnormality of chromosome stability, Methylmalonic aciduria, Decreased circulating I... |
ORPHA:859 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Smooth philtrum, Cleft palate, High pa... |
OMIM:616730 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Erythroderma, Villous atrophy, Pustule, Duodenitis, Increased circulating IgE le... |
OMIM:614328 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis, Deep dermatophytosis |
OMIM:212050 |
Boutonneuse Fever |
|
Nausea, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Maculo... |
ORPHA:83313 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough |
ORPHA:60026 |
Pgm3-Cdg |
|
Autoimmunity, Lactose intolerance, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil... |
ORPHA:443811 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustule, Myositis, Increased circulating IgA level, Paratracheal lymphadenopathy, Rheumatoid fact... |
OMIM:615934 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... |
ORPHA:79127 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Crescentic glomerulonephritis, Antinuclear antibody positivity, Arthritis, Mesangial hypercellula... |
OMIM:616414 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Villous atrophy, Erythroderma, Vomiting, Decreased circulating IgA level, Oligoarthritis,... |
OMIM:619510 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... |
ORPHA:182050 |
Microsporidiosis |
|
Brain abscess, Cholangitis, Sinusitis, Myocarditis, Hepatitis, Abnormality of the urinary system ... |
ORPHA:2552 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency |
OMIM:253300 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ... |
ORPHA:79078 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Abnormal eosinophil morphology... |
ORPHA:724 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Autoimmunity, Erythroderma, Nephrotic syndrome, Pneumonia, Lymphadeno... |
ORPHA:39041 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Complement Component 5 Deficiency |
|
Decreased serum complement C5, Reduced hemolytic complement activity, Generalized seborrheic derm... |
OMIM:609536 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Recurrent skin infections |
OMIM:617744 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Melioidosis |
|
Abnormality of the spleen, Splenic abscess, Unusual skin infection, Pneumonia, Prostatitis, Abnor... |
ORPHA:31202 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Eczema, Smooth philtrum, Cleft palate, High palate, Minimal change glomeru... |
OMIM:618348 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:605258 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Lymphadenopathy, Recurrent otitis media, Systemic lupus erythematosus, Hepatitis, S... |
ORPHA:444463 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... |
ORPHA:69126 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... |
OMIM:617765 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Cough, Tremor, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilation, ... |
ORPHA:90117 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Hypoplasia of the corpus callosum, Respiratory insufficiency, Cerebral corti... |
OMIM:616081 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Lymphadenopathy, Abnormal renal physiology, Decreased circulating antibody level, Sp... |
ORPHA:540 |
Whim Syndrome |
|
Sinusitis, Abnormality of the small intestine, Pneumonia, Bronchiectasis, Lymphadenitis, Decrease... |
ORPHA:51636 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Bronchiectasis, Lymphadenopathy, Splenomegaly, In... |
OMIM:615513 |
Fechtner syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:153640 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus |
ORPHA:330064 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Colonic eosinophilia, Hepatospleno... |
OMIM:618999 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Pruritus, Systemic lupus erythematosus, Hyperthyroidism, Rheumatoid arthri... |
ORPHA:48377 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Growth delay, Apnea, Tremor, Cerebral atrophy, Respiratory failure, Secondary m... |
OMIM:617248 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea |
OMIM:219400 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Bullous Impetigo |
|
Pustule, Abnormality of the lymphatic system, Septic arthritis, Recurrent bacterial skin infectio... |
ORPHA:36237 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Antinuclear antibody positivity |
OMIM:613495 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibody positivity |
ORPHA:90159 |
Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
Igg4-Related Aortitis |
|
Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... |
ORPHA:449400 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... |
ORPHA:1303 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Eczema, Decreased circulating antibody level |
OMIM:300988 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Erythroderma, Tubulointerstitial nephritis, Infectious encephalitis, Nephrotic syndr... |
ORPHA:139402 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Mucoid diarrhea, Decreased circulating IgG level, Crohn's di... |
OMIM:615767 |
Insulin Autoimmune Syndrome |
|
Autoimmunity, Arthralgia/arthritis, Systemic lupus erythematosus, Autoimmune antibody positivity,... |
ORPHA:411593 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... |
ORPHA:723 |
Systemic Lupus Erythematosus 16 |
|
Nephritis, Systemic lupus erythematosus |
OMIM:614420 |
Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... |
ORPHA:922 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Cerebral atrophy, Tremor |
OMIM:618637 |
Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... |
ORPHA:1302 |
Galloway-Mowat Syndrome 2, X-Linked |
|
High palate, Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5... |
OMIM:301006 |
Simple Cryoglobulinemia |
|
Pericarditis, Monoclonal elevation of circulating IgA, Nephrotic syndrome, Monoclonal immunoglobu... |
ORPHA:91139 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Pulmonary infiltrate... |
ORPHA:99931 |
Lethal Osteosclerotic Bone Dysplasia |
|
Intrauterine growth retardation, Respiratory distress, Respiratory failure, Dyspnea, Microcephaly |
ORPHA:1832 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency, Short stature |
ORPHA:2901 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Increased circulating antibody level, Skin rash |
OMIM:618048 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Recurrent respiratory infections, Decreased ... |
OMIM:610910 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Bronchiectasis, Osteomyelitis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... |
OMIM:608184 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Cyanosis, Intercos... |
ORPHA:91359 |
Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Hypoplasia of the thym... |
OMIM:603554 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Polymicrogyria, Respiratory failure, Hypoplasia... |
OMIM:618291 |
Immunodeficiency, Common Variable, 3 |
|
Reduced isohemagglutinin level, Decreased circulating IgA level, Recurrent otitis media, Decrease... |
OMIM:613493 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Neonatal death, Abnormal anterior horn cell mor... |
OMIM:611890 |
Pemphigus Foliaceus |
|
Autoimmunity, Psoriasiform dermatitis, Erythroderma, Pustule, Pruritus, Abnormal oral mucosa morp... |
ORPHA:79481 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... |
ORPHA:93126 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:656 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... |
OMIM:618394 |
Pelger-Huet Anomaly |
|
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... |
OMIM:169400 |
Immunodeficiency 23 |
|
Eczema, High palate, Neutropenia, Allergic rhinitis, Bronchiectasis, Abscess, Increased circulati... |
OMIM:615816 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia |
OMIM:312863 |
Sézary Syndrome |
|
Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level, Pruritus, Splenomegaly |
ORPHA:3162 |
Thymoma |
|
Autoimmunity, Abnormal lymphocyte proliferation, Anti-acetylcholine receptor antibody positivity,... |
ORPHA:99867 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Celiac disease, Decreased circulating total IgG, Decreased circu... |
OMIM:618969 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Stomatitis, Decreased circulating IgA level, Impaired memory B cell generation, Hepatitis, Decrea... |
OMIM:308230 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... |
OMIM:617388 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Autoimmunity, Abnormal intestine morphology, Neutropen... |
ORPHA:1830 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... |
ORPHA:266 |
Immunoerythromyeloid Hypoplasia |
|
Absent leukocyte alkaline phosphatase, Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:618987 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Autoimmunity, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, S... |
OMIM:614470 |
Immunodeficiency, Common Variable, 10 |
|
Anti-thyroid peroxidase antibody positivity, Pyloric stenosis, Psoriasiform dermatitis, Central a... |
OMIM:615577 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Neuronal loss in the cerebral cortex, Central sleep apnea, ... |
ORPHA:168486 |
Breath-Holding Spells |
|
Cyanosis, Pallor |
OMIM:607578 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Autoimmunity, Inflammation of the large intestine, Lymphadenopathy, Decreased circul... |
ORPHA:2442 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating Ig... |
ORPHA:275 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Intrauterine growth retardation, Respiratory insufficiency, Abnormal cerebral white matter morpho... |
OMIM:615330 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... |
ORPHA:49041 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Decreased circulating antibody level, Polycystic ovaries, Ab... |
ORPHA:100 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Hypospadias, Bilateral cryptorchidism, Micropenis, Erythroderma |
OMIM:618840 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Corneodermatoosseous Syndrome |
|
Abnormality of the dentition, Hypomature dental enamel, Erythroderma |
OMIM:122440 |
Immunodeficiency 54 |
|
Chromosome breakage, Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Reduced ... |
OMIM:609981 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... |
ORPHA:100024 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress |
OMIM:614399 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Widely spaced teeth, Eczema, Microdontia |
OMIM:233810 |
Netherton Syndrome |
|
Eczema, Hydronephrosis, Erythroderma, Decreased circulating antibody level, Malabsorption, Increa... |
ORPHA:634 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abscess... |
ORPHA:400 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Dermatitis, Atopic |
|
Allergic rhinitis, Asthma, Facial erythema, Dry skin, Pallor |
OMIM:603165 |
Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions |
ORPHA:137935 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... |
ORPHA:562639 |
Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Dysphagia, Decreased specific antibody response to vaccination, Recurr... |
OMIM:618131 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Apnea, Cerebral atrophy, Respiratory failure, Microcep... |
OMIM:610127 |
Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Intrauterine growth retardation,... |
ORPHA:2257 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Intrauterine growth retardation, Respiratory insufficiency, Growth... |
OMIM:245400 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy, Microcephaly |
OMIM:225753 |
Tularemia |
|
Mediastinal lymphadenopathy, Cervical lymphadenopathy, Pneumonia, Lymphadenopathy, Increased circ... |
ORPHA:3392 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ... |
OMIM:308240 |
Netherton Syndrome |
|
Abnormal intestine morphology, Allergic rhinitis, Villous atrophy, Erythroderma, Decreased circul... |
OMIM:256500 |
Immunodeficiency 17 |
|
Recurrent otitis media, Abnormal intestine morphology, Eczema, Autoimmune hemolytic anemia |
OMIM:615607 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency 52 |
|
Death in infancy, Bronchiectasis, Lymphadenopathy, Increased proportion of gamma-delta T cells, C... |
OMIM:617514 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Hepatomegaly, Erythroderma, Vomiting, Elevated total serum tryptase, L... |
ORPHA:79456 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Dyspnea, Pallor |
ORPHA:228312 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... |
ORPHA:888 |
Cirrhosis, Familial |
|
Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Acute Myelomonocytic Leukemia |
|
Dyspnea, Pallor, Eosinophilia |
ORPHA:517 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Recurrent skin infections, Pustule |
OMIM:618847 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empyema, Re... |
ORPHA:36238 |
Brucellosis |
|
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, ... |
ORPHA:1304 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, High palate, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic... |
OMIM:618282 |
Chiari Malformation Type Ii |
|
Opisthotonus, Myelomeningocele, Cyanosis, Spina bifida, Hydrocephalus, Gray matter heterotopia, A... |
OMIM:207950 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Pulmonary situs ambiguus, Bronchiectas... |
ORPHA:244 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive |
OMIM:617718 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Rheumatoid factor positive, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Ant... |
OMIM:618852 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Abnormal eosin... |
ORPHA:1164 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Autoimmunity, Leukopenia, Pneumonia, Increased circulating Ig... |
ORPHA:2298 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmo... |
ORPHA:199241 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Intrauterine growth retardation, Opisthotonus, Polymicrogyria, Respiratory fail... |
OMIM:610678 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Cough, Aspiration, Cyanosis, Recurrent respiratory infect... |
ORPHA:2004 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Oral ulcer, Colitis, He... |
OMIM:613148 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Familial Focal Epilepsy With Variable Foci |
|
Hemimegalencephaly, Polymicrogyria, Flushing, Focal cortical dysplasia, Pallor |
ORPHA:98820 |
Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... |
ORPHA:178320 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of the skin, Autoim... |
ORPHA:555905 |
Spontaneous Periodic Hypothermia |
|
Tremor, Pallor, Aplasia/Hypoplasia of the corpus callosum, Abnormal pattern of respiration |
ORPHA:29822 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... |
OMIM:210250 |
Bronchogenic Cyst |
|
Pneumonia, Bronchogenic cyst, Cough, Pulmonary cyst, Abnormal pleura morphology, Dyspnea, Abnorma... |
ORPHA:2357 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Tremor, Abnorma... |
ORPHA:2590 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Short stature |
OMIM:600561 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circulating antibod... |
OMIM:300635 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Respiratory failure, Cerebral atrophy, Respiratory insufficiency, Degeneration of anterior horn c... |
OMIM:600333 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash, Splenomegaly |
OMIM:619175 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Ichthyosis With Confetti |
|
Erythroderma |
OMIM:609165 |
Plague |
|
Bloody diarrhea, Inflammation of the large intestine, Enlarged mesenteric lymph node, Vomiting, E... |
ORPHA:707 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Schnitzler Syndrome |
|
Lymphadenopathy, Pruritus, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash |
ORPHA:37748 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmunity, Abnormal intestine morphology, Eczema, Exocrine pancreatic insufficiency, Celiac di... |
OMIM:615952 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... |
OMIM:614700 |
Candidiasis, Familial, 8 |
|
Macroglossia, Blepharitis, Seborrheic dermatitis |
OMIM:615527 |
Mycosis Fungoides |
|
Lymphadenopathy, Psoriasiform dermatitis, Eczema, Pruritus |
OMIM:254400 |
Systemic Sclerosis |
|
Myocarditis, Gastroparesis, Abnormal stomach morphology, Intestinal bleeding, Chronic kidney dise... |
ORPHA:90291 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Opisthotonus, Growth delay, Exertional dyspnea, Cyanosis, Microcephaly |
OMIM:250800 |
Immunodeficiency 31C |
|
Autoimmunity, Abnormal intestine morphology, Eczema, Villous atrophy, Chronic mucocutaneous candi... |
OMIM:614162 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Atopic dermatitis, Decreased specific antibody response to polysaccharide vaccine, Rhi... |
ORPHA:70593 |
Variant Abeta2M Amyloidosis |
|
Abnormal salivary gland morphology, Intestinal perforation, Abnormality of the tongue, Chronic ki... |
ORPHA:314652 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613736 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis, Diarrhea |
ORPHA:314 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Decreased circulating antibod... |
ORPHA:289390 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Seborrheic dermatitis, Marked delay in eruption of permanent ... |
OMIM:104570 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Pruritus, Erythroderma, Hypohidrosis, Keratitis |
ORPHA:79394 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... |
ORPHA:60033 |
Epidermolytic Hyperkeratosis |
|
Erythroderma |
OMIM:113800 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Viral hepatitis, Bacterial endocarditis, Pneumonia, Cryoglo... |
ORPHA:48435 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Smooth philtrum, Nephrotic syndrome, Long philtrum, Gingival overgrowth, Glomerular ... |
OMIM:619428 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia, Bronchiectasis |
OMIM:619126 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Microcephaly, Tracheomalacia, Atelectasis |
ORPHA:896 |
Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Decreased circulating IgA level, Decreased circulating IgG l... |
OMIM:619281 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Otitis media, Panhypogam... |
OMIM:602450 |
Hyperekplexia 4 |
|
Respiratory failure, Umbilical hernia, Cerebral atrophy |
OMIM:618011 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed ... |
OMIM:617241 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Pulmonary fibrosis, Exertional dyspnea, Atelectasis, Bronchiolitis |
ORPHA:254361 |
Lamellar Ichthyosis |
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Erythroderma, Chronic otitis media, Pruritus, Everted lower lip vermilion, Abnormality of the den... |
ORPHA:313 |
Congenital Lethal Erythroderma |
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Congenital exfoliative erythroderma, Malabsorption |
ORPHA:1954 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
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Increased circulating IgE level, Eczema, Thyroiditis, Celiac disease |
OMIM:618985 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Nocardiosis |
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Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Lymphadenitis, Peritonitis, Vomit... |
ORPHA:31204 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
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Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... |
OMIM:616576 |
Emphysema, Hereditary Pulmonary |
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Chronic bronchitis, Chronic pulmonary obstruction, Emphysema |
OMIM:130700 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Renal hypoplasia, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thin uppe... |
OMIM:614376 |
Lysinuric Protein Intolerance |
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Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... |
ORPHA:470 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
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Eczema, Bronchiectasis, Macroglossia, Recurrent otitis media, Keratitis, Chronic diarrhea, Increa... |
OMIM:618523 |
Kcnq2-Related Epileptic Encephalopathy |
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Abnormal globus pallidus morphology, Apnea, Abnormal cerebral white matter morphology, Cerebral e... |
ORPHA:439218 |
Indolent Systemic Mastocytosis |
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Lymphadenopathy, Pruritus, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular ... |
ORPHA:98848 |
Alport Syndrome 3, Autosomal Dominant |
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Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... |
OMIM:104200 |
Idiopathic Pulmonary Fibrosis |
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Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... |
ORPHA:2032 |
N Syndrome |
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Leukemia, Cryptorchidism, Abnormality of chromosome stability, Hypospadias |
OMIM:310465 |
Congenital Pulmonary Lymphangiectasia |
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Chronic pulmonary obstruction, Growth delay, Pulmonary arterial hypertension, Cough, Respiratory ... |
ORPHA:2414 |
Wiskott-Aldrich Syndrome 2 |
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Reduced natural killer cell activity, Eczema, Defective T cell proliferation |
OMIM:614493 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Optic Atrophy 9 |
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Pallor |
OMIM:616289 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Autoimmunity, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:613011 |
Storage Pool Platelet Disease |
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Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Primary Lateral Sclerosis, Juvenile |
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Pallor, Cerebral cortical atrophy, Abnormal upper motor neuron morphology |
OMIM:606353 |
Al Amyloidosis |
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Abnormal salivary gland morphology, Hepatomegaly, Dysphagia, Nephrotic syndrome, Macroglossia, Xe... |
ORPHA:85443 |
Immunodeficiency 55 |
|
Diarrhea, Eczema, Recurrent skin infections, Lymphadenopathy |
OMIM:617827 |
Pediatric Systemic Lupus Erythematosus |
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Thrombocytopenia, Lymphadenopathy, Antinuclear antibody positivity, Diarrhea, Nephrotic syndrome,... |
ORPHA:93552 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
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Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:605711 |
Fanconi Anemia, Complementation Group G |
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Neutropenia, Abnormality of chromosome stability, Leukemia, Anemia, Thrombocytopenia |
OMIM:614082 |
Erythema Elevatum Diutinum |
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Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Pallor |
ORPHA:46532 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Incr... |
ORPHA:449563 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
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Eczematoid dermatitis, High palate, Chronic mucocutaneous candidiasis, Increased circulating IgE ... |
OMIM:147060 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Increased circulating m... |
ORPHA:36234 |
Interstitial Granulomatous Dermatitis With Arthritis |
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Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis, Rheumatoid factor positive |
ORPHA:79099 |
Congenital Tracheomalacia |
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Wheezing, Neonatal respiratory distress, Apnea, Patent ductus arteriosus, Decreased peak expirato... |
ORPHA:95430 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
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Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:254875 |
Congenital Muscular Dystrophy With Intellectual Disability |
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Respiratory insufficiency, Microcephaly, Respiratory failure, Abnormal periventricular white matt... |
ORPHA:370968 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
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Abnormal cortical gyration, Neonatal respiratory distress, Patent ductus arteriosus, Respiratory ... |
OMIM:616867 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilato... |
ORPHA:747 |
Evans Syndrome |
|
Petechiae, Epistaxis, Dyspnea, Pallor, Bruising susceptibility, Jaundice |
ORPHA:1959 |
Lig4 Syndrome |
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Leukocytosis, Hepatomegaly, Abnormality of chromosome stability, Acute leukemia, Lymphadenopathy,... |
ORPHA:99812 |
Bloom Syndrome |
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Chromosome breakage, Abnormality of chromosome stability, Bronchiectasis, Leukemia, Decreased cir... |
OMIM:210900 |
Pulmonary Alveolar Microlithiasis |
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Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Incr... |
ORPHA:60025 |
Autosomal Dominant Hyper-Ige Syndrome |
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Cough, Generalized abnormality of skin, Recurrent respiratory infections, Eosinophilia, Skin ulce... |
ORPHA:2314 |
Isolated Agammaglobulinemia |
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Sinusitis, Autoimmunity, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lym... |
ORPHA:229717 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
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Anterior uveitis, Ileal ulcer, Skin rash, Oral ulcer, Lupus anticoagulant, Colitis, Antinuclear a... |
OMIM:616744 |
Spondylometaphyseal Dysplasia, X-Linked |
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Respiratory failure, Respiratory insufficiency, Severe short stature |
OMIM:313420 |
Adult Acute Respiratory Distress Syndrome |
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Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Pulmonary infiltrates, Respirato... |
ORPHA:70578 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Autoimmunity, Pericarditis, Lymphadenopathy, Anterior uveitis, Splenomegaly, Juvenile rheumatoid ... |
ORPHA:85414 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Erythema nodosum |
OMIM:611762 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
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Respiratory failure, Neonatal death, Respiratory insufficiency |
OMIM:228940 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
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Pericarditis, Abnormal renal physiology, Systemic lupus erythematosus, Arthritis, Malar rash, Ant... |
OMIM:609939 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Brooke-Spiegler Syndrome |
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Abnormality of the submandibular glands, Salivary gland neoplasm, Abnormality of the sublingual g... |
ORPHA:79493 |
Leishmaniasis |
|
Hepatomegaly, Abnormal oral cavity morphology, Leukopenia, Elevated hepatic transaminase, Lymphad... |
ORPHA:507 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea, Progressive microcephaly |
ORPHA:71277 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Decreased circulating IgG level, Episodic vomiting |
OMIM:618973 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Jaundice |
ORPHA:890 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, High palate, Systemic lupus erythematosus, Anemia, Splenomegaly, Crusting e... |
OMIM:170100 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... |
OMIM:615285 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating ... |
ORPHA:183675 |
X-Linked Sideroblastic Anemia |
|
Dyspnea, Pallor |
ORPHA:75563 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Hypodontia, Eczema, Abnormality of dental morphology, Thick vermilion border, Hypohidrosis, Abnor... |
ORPHA:1810 |
Epidermodysplasia Verruciformis |
|
Seborrheic dermatitis, Recurrent skin infections, Pustule |
ORPHA:302 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... |
OMIM:612387 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Splenomegaly, Skin rash, Nephropathy, Proteinuria |
OMIM:105200 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Increased circulating antibody level, Nephrotic syndrome, Splenomegaly |
OMIM:615846 |
Immunodeficiency 33 |
|
Hypodontia, Increased circulating IgA level, Delayed eruption of teeth, Conical tooth, Decreased ... |
OMIM:300636 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Short stature |
ORPHA:2786 |
Scedosporiosis |
|
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Pleuritis, ... |
ORPHA:449280 |
Trichothiodystrophy 3, Photosensitive |
|
Erythroderma |
OMIM:616395 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy, Atelectasis |
OMIM:300219 |
Juvenile Arthritis |
|
Antinuclear antibody positivity, Skin rash |
OMIM:618795 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Renal hypoplasia, Cleft palate, Abnormality of chromosome stability, Anemia,... |
OMIM:614083 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... |
ORPHA:133 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Seborrheic dermatitis, Secretory diarrhea, Acne, Hyperhidrosis |
OMIM:614441 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Punctate keratitis |
OMIM:602540 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... |
OMIM:102700 |
Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea |
OMIM:613490 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Partial agenesis of the corpus callosum, Opisthotonus, Myelomeningocele, Pneumonia, ... |
ORPHA:1136 |
Macrophage Activation Syndrome |
|
Autoimmunity, Neutropenia, Lymphadenopathy, Hepatitis, Splenomegaly, Abnormal serum interleukin l... |
ORPHA:158061 |
Acquired Ichthyosis |
|
Autoimmunity, Pruritus, Recurrent skin infections, Renal insufficiency |
ORPHA:454 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, Pneumonia, Anal canal squamous carcinoma, Chronic otitis media, Increased circ... |
ORPHA:217390 |
Q Fever |
|
Myocarditis, Thrombocytopenia, Lymphadenopathy, Hepatitis, Rheumatoid factor positive, Splenomega... |
ORPHA:781 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule |
ORPHA:346 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis |
OMIM:193670 |
Keratolytic Winter Erythema |
|
Pustule, Hyperhidrosis |
ORPHA:50943 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Redundant neck skin, Neonatal respiratory distress, Intrauterine growth retardation, Neonatal dea... |
OMIM:619003 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... |
OMIM:614370 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Everted lower lip vermilion |
OMIM:242300 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor, Microcephaly |
OMIM:150260 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pulmonary lymphangiectasia, Abnormal renal glomerulus morphology, Thick vermilion border, Membran... |
OMIM:137940 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Rec... |
OMIM:244400 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Death in infancy, Death in childhood |
OMIM:619334 |
Pulmonary Hemosiderosis |
|
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... |
OMIM:178550 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Autoimmunity, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chronic otiti... |
ORPHA:47 |
Immunodeficiency 92 |
|
Cholangitis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Leukocytos... |
OMIM:619652 |
Coccidioidomycosis |
|
Lymphadenopathy, Eosinophilia, Morbilliform rash, Abnormality of the bladder, Pericarditis, Folli... |
ORPHA:228123 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma |
ORPHA:312 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Gastri... |
OMIM:618108 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Increased circulating IgA level, Reduced natural killer cell activity, Dysgammag... |
OMIM:300291 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia, Abnormality of chromosome stability |
OMIM:600546 |
Bathing Suit Ichthyosis |
|
Erythroderma, Eclabion, Hypohidrosis |
ORPHA:100976 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Stillbirth, Hydrocephalus, Respiratory failure, Aqueductal stenosis |
OMIM:276950 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... |
ORPHA:169079 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Hy... |
ORPHA:87503 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Intrauterine growth retardation, Growth delay, Aplasia/Hypoplasia of the corpus... |
ORPHA:1194 |
Reticular Dysgenesis |
|
Chronic otitis media, Decreased circulating antibody level, Malabsorption, Skin rash, Aplasia/Hyp... |
ORPHA:33355 |
Fanconi Anemia, Complementation Group D1 |
|
T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Anal atresia, Acute myeloid le... |
OMIM:605724 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Inflammation of the large intestine, Mediastinal lymphadenopa... |
OMIM:181000 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Autoimmunity, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-ne... |
ORPHA:572 |
Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Autoimmunity, Abnormal palate morphology, Dysphagia, Lymphadenopathy, Spl... |
ORPHA:100026 |
Acquired Partial Lipodystrophy |
|
Autoimmunity, Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Decreased serum complement... |
ORPHA:79087 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency, Patent ductus arteriosus |
OMIM:601612 |
Icf Syndrome |
|
Abnormality of chromosome stability, Macroglossia, Decreased circulating antibody level, Anemia, ... |
ORPHA:2268 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Elevated urinary prostaglandin E2 level, Seborrheic dermatitis, Acne, Hyperhidrosis, Secretory di... |
OMIM:167100 |
Yao Syndrome |
|
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Nephr... |
OMIM:617321 |
Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Coug... |
ORPHA:454836 |
Fanconi Anemia, Complementation Group F |
|
Renal hypoplasia, Duodenal atresia, Leukopenia, Pneumonia, Pelvic kidney, Decreased response to g... |
OMIM:603467 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Respiratory insufficiency due to muscle weakness, Pallor |
OMIM:608423 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Secondary microcephaly, Pallor, Cerebral atrophy, Jaundice |
OMIM:613839 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Cutis Laxa, Autosomal Dominant 1 |
|
Progeroid facial appearance, Prematurely aged appearance, Emphysema, Redundant skin |
OMIM:123700 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... |
ORPHA:98913 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Biliary atresia, Bone marrow hypocellularity, Esophageal atresia |
OMIM:615272 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Neutropenia, Lymphadenopathy, Splenomegaly, Lymphocytosis, Enlargement of parotid gl... |
ORPHA:50918 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Macroglossia, Cheilitis, Lymphadenopathy, Furrowed tongue, ... |
ORPHA:2483 |
Acute Peripheral Arterial Occlusion |
|