Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
Immunodeficiency With Defective T-Cell Response To Interleukin 1 |
|
Recurrent otitis media, Recurrent pneumonia |
OMIM:243110 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus |
OMIM:613783 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Stomach cancer, Cleft palate |
OMIM:137215 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... |
OMIM:618108 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropeni... |
OMIM:614470 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... |
OMIM:616576 |
Melioidosis |
|
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormality of the spleen... |
ORPHA:31202 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczematoid dermatitis, Increased circulating IgE level, Decreased serum insulin-like growth facto... |
OMIM:618985 |
Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma |
OMIM:114550 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... |
ORPHA:444463 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Leukopenia, Acute myeloid leukemia,... |
OMIM:616871 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... |
OMIM:619375 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Complement Component 4B Deficiency |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron... |
OMIM:614379 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l... |
ORPHA:436159 |
Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... |
OMIM:613953 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Neutrophilia, Hereditary |
|
Myelodysplasia, Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia |
OMIM:162830 |
Lupus Erythematosus Tumidus |
|
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... |
ORPHA:90283 |
Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... |
OMIM:608189 |
Congenital Pancreatic Cyst |
|
Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas... |
OMIM:137100 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
Autoimmune Thyroid Disease, Susceptibility To, 3 |
|
Thyroiditis |
OMIM:608175 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Erythema nodosum, Atrophic gastritis... |
OMIM:614700 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma |
ORPHA:64741 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Weight loss, Cachexi... |
ORPHA:2552 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Cirrhosis, Glomerulonephritis, Acute hepatitis, Jaundice, Ga... |
ORPHA:2137 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Skin rash, Oral ulcer, Lupus anticoagulant, Antinuclear antibody positivity, Thrombo... |
OMIM:616744 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Bronchitis, Weight loss, Recurrent aspiration pneumonia, Dysphagia |
ORPHA:930 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... |
OMIM:619924 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... |
OMIM:618982 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic oral candidiasis, Failure to thrive, Monocytosis |
OMIM:615592 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... |
OMIM:614420 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... |
OMIM:308220 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... |
ORPHA:183675 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Colorectal polyposis |
ORPHA:160148 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin... |
OMIM:609529 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Diarrhea, Recurrent otitis media, Pyoderma, Decreased response to growth hormone stimu... |
OMIM:307200 |
Neuromyelitis Optica Spectrum Disorder |
|
Myelitis, Peripheral demyelination, Paraplegia, Optic neuritis, Nausea, Autoimmune antibody posit... |
ORPHA:71211 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... |
ORPHA:37042 |
Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
Immune Thrombocytopenia |
|
Thrombocytopenia, Platelet antibody positive |
OMIM:188030 |
Igg4-Related Thyroid Disease |
|
Graves disease, Anti-thyroglobulin antibody positivity, Euthyroid goiter, Goiter, Increased circu... |
ORPHA:64744 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Conical tooth, Osteomyelitis, Hepatosplenomegaly, De... |
OMIM:301081 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased c... |
OMIM:607271 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Skin rash, Keratoconjunctivi... |
OMIM:617321 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Antineutrophil antibody positivity, Type I diabetes mellitus, Hepatitis, Acute hepatic failure, F... |
ORPHA:228426 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... |
OMIM:619281 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... |
OMIM:300635 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Autoimmune antibody positivity, Plasmacytosis |
ORPHA:60026 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Type I diabetes mellitus, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:618549 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Cone-Rod Dystrophy 7 |
|
Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy |
OMIM:603649 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Splenomegaly, Punctate keratitis, Keratoconjunctivitis sicca, Increased circul... |
OMIM:617388 |
Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema nodosum, Hepatomegaly, Abnormal... |
OMIM:612387 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Antinuclear antibody positivity, Recurrent respiratory infections... |
OMIM:613495 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... |
OMIM:619290 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... |
OMIM:613021 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis |
OMIM:216950 |
Immunodeficiency 104 |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive secondary to recurrent infections, Chronic mu... |
OMIM:608971 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo... |
OMIM:619126 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Bronchitis, Hepatitis, Emphysema, Cholestasis, Cirrhosis, Perinuclear antineutro... |
ORPHA:60 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Gastroesophageal reflux, Stomach cancer, Abnorma... |
ORPHA:2494 |
Cryptococcosis |
|
Pneumonia, Vomiting, Abnormal optic nerve morphology, Systemic lupus erythematosus, Osteomyelitis... |
ORPHA:1546 |
Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati... |
OMIM:619644 |
C1Q Deficiency 1 |
|
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus |
OMIM:613652 |
Young Syndrome |
|
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... |
OMIM:279000 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Tremor, Clusters of axonal regeneration, Decreased num... |
OMIM:607734 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent otitis media, Hypogonadism, External genital hypoplasia, Obesity, Retina... |
OMIM:615993 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Failu... |
OMIM:300400 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, ... |
OMIM:615122 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Diarrhea, Keratoconjunctivitis, Iridocyclitis, Hypoparathyroidism, Premature ovarian insufficienc... |
OMIM:240300 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Hepatitis Delta |
|
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... |
ORPHA:402823 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... |
ORPHA:206594 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
Autoimmune Polyendocrinopathy Type 3 |
|
Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Antiphospholipid antibody positi... |
ORPHA:227982 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Autoimmunity, Impaired lymphocyte transformation with phytohem... |
OMIM:617006 |
Immunodeficiency 48 |
|
Pneumonia, Failure to thrive, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaire... |
OMIM:269840 |
Rat-Bite Fever |
|
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis,... |
ORPHA:31205 |
Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... |
OMIM:300755 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... |
ORPHA:139402 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis |
ORPHA:139436 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy |
OMIM:136550 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Type I diabetes mellitus, Decreased specific anti-polysaccharide antibody level, Eczematoid derma... |
OMIM:606367 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopen... |
OMIM:619164 |
Omenn Syndrome |
|
Pneumonia, Failure to thrive, Autoimmunity, Splenomegaly, Hypothyroidism, Erythroderma, Hepatomeg... |
ORPHA:39041 |
Immunodeficiency 56 |
|
Recurrent pneumonia, Hepatic failure, Recurrent otitis media, Recurrent infection of the gastroin... |
OMIM:615207 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino... |
OMIM:617638 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly |
OMIM:619175 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,... |
OMIM:618944 |
Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res... |
ORPHA:60033 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Granulomatosis With Polyangiitis |
|
Abnormality of the hypothalamus-pituitary axis, Gastrointestinal hemorrhage, Diabetes insipidus, ... |
ORPHA:900 |
Macular Dystrophy, Retinal, 2 |
|
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... |
OMIM:608051 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Increased T cell count, Dec... |
OMIM:620449 |
Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... |
OMIM:300853 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... |
OMIM:269600 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Myelodyspl... |
ORPHA:486 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Lacrimation abnormality, Hypohidrosis, Non-midline cleft of the upper lip, Cleft palate |
ORPHA:1484 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Tetraparesis, Axial dystonia, Pancreatitis, Optic disc pallor, Dystonia, Dysphagia |
OMIM:618230 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... |
OMIM:617514 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections |
OMIM:618806 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Igg4-Related Kidney Disease |
|
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal mesentery morphology, Pr... |
ORPHA:449395 |
Stargardt Disease 3 |
|
Macular atrophy, Macular dystrophy, Macular flecks |
OMIM:600110 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Hypertrophic nerve changes, Decreased motor nerve conduction velocity... |
OMIM:180800 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Autoimmunity, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Juvenile rhe... |
ORPHA:85414 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections |
ORPHA:3347 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Thymoma, Type I diabetes mellitus, Rheumatoid arthritis, Xerostomia, Hepatiti... |
ORPHA:227990 |
Immunodeficiency 69 |
|
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... |
OMIM:618963 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh... |
OMIM:601457 |
Autoimmune Polyendocrinopathy Type 2 |
|
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... |
ORPHA:3143 |
Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Diarrhea, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Oral u... |
OMIM:620376 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, Eczematoid dermat... |
ORPHA:83471 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Conjunctivitis, Impaired T cell f... |
OMIM:240500 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Conjunctivitis, Skin rash, Arthritis, Uveitis |
OMIM:120100 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Weight loss, Cleft palate, Aspiration pneumonia |
ORPHA:141152 |
Igg4-Related Ophthalmic Disease |
|
Neoplasm of the lung, Keratitis, Abnormal optic nerve morphology, Colon cancer, Sialadenitis, Orc... |
ORPHA:449563 |
Diencephalic Syndrome |
|
Optic atrophy, Long penis, Decreased body weight, Cachexia, Hyperhidrosis, Abnormality of the hyp... |
ORPHA:1672 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:609923 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia |
ORPHA:2688 |
Thyroid Hemiagenesis |
|
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... |
ORPHA:95719 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... |
OMIM:615285 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Glandular hypospadias, Gastritis, Shawl scrotum, Recurrent respiratory infections, Hypo... |
ORPHA:2575 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly, Diabetes mel... |
ORPHA:79084 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Impaired T cell functi... |
OMIM:607594 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Vocal cord paresis, Basal lamina onion bulb formation, Decreased motor nerve conduction velocity,... |
OMIM:614895 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma |
OMIM:615593 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Diarrhea, Inflammatory abnorma... |
ORPHA:277 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:100024 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... |
ORPHA:905 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis |
OMIM:620137 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Glomerulonephritis, Increased circulating antibody level |
OMIM:247800 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Immunodeficiency 32B |
|
Pneumonia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, An... |
OMIM:226990 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Recurrent pneumonia, Splenomegaly, Cone/cone-rod dystrophy, Retinal degeneration, ... |
OMIM:602271 |
Bronchiolitis Obliterans |
|
Pneumonia, Autoimmunity, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis |
ORPHA:1303 |
Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... |
ORPHA:3261 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L... |
ORPHA:169160 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Froment sign, Decreased motor nerve conduction ... |
OMIM:162500 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... |
OMIM:614480 |
Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymp... |
ORPHA:66661 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... |
OMIM:613490 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Spasticity, Spastic paraparesis, Leukodystrophy, Frequent falls, Peripheral demyel... |
OMIM:614877 |
Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... |
ORPHA:85128 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Hypogonadism, Cryp... |
ORPHA:3363 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Decreased circ... |
ORPHA:275 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Infertility, Bronchiectasis |
OMIM:618449 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine amino... |
OMIM:618805 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Neutral Lipid Storage Disease With Myopathy |
|
Fasciculations, Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Elevated circulating creat... |
OMIM:610717 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... |
OMIM:618204 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... |
OMIM:613812 |
Cowden Syndrome 5 |
|
Thyroid adenoma, Colonic diverticula, Goiter, Furrowed tongue, Angioid streaks of the fundus, Ova... |
OMIM:615108 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Cryptorchidism, Re... |
OMIM:275400 |
Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent... |
OMIM:301101 |
Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Gout, Chronic ... |
OMIM:232240 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Eleva... |
ORPHA:562639 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
Microscopic Polyangiitis |
|
Uveitis, Diarrhea, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Episcleritis, Skin ... |
ORPHA:727 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Diarrhea, Protracted diarrhea, Acute otitis media, Autoimmune thrombo... |
ORPHA:572 |
Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Uv... |
OMIM:607115 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Autoimmunity, Skin rash, Spleno... |
ORPHA:809 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Null Syndrome |
|
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Decreased nerve conduction ve... |
ORPHA:280234 |
Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Otitis media, Recurrent bronchitis, Sinusitis |
OMIM:312863 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Failure to thrive, Recurrent otitis media, Decreased circulating antibody level, Splen... |
ORPHA:397596 |
Whim Syndrome |
|
Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop... |
ORPHA:51636 |
Macrophage Activation Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Decreased... |
ORPHA:158061 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction... |
OMIM:601098 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Cowden Syndrome 6 |
|
Varicocele, Thyroid adenoma, Colonic diverticula, Goiter, Furrowed tongue, Angioid streaks of the... |
OMIM:615109 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Paralysis, Decreased numbe... |
OMIM:605285 |
Autoimmune Lymphoproliferative Syndrome |
|
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... |
OMIM:601859 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Juvenile Arthritis |
|
Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis |
OMIM:618795 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Hip osteoarthritis, Rhegmatogenous retinal detachment |
OMIM:619248 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... |
OMIM:605258 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Axonal degeneration/regener... |
OMIM:609260 |
Wolman Disease |
|
Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, Splenomegaly, H... |
OMIM:620151 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Spasticity, Peripheral demyelination, Chorea, Rigidity, Abnormality of extrapyramidal motor funct... |
OMIM:617672 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... |
OMIM:603471 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Hepatomegaly, Breast carci... |
ORPHA:86893 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Uveitis |
OMIM:193235 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... |
ORPHA:231154 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Hand tremor, Peripheral demyelination, Decreased compound muscle action potential amplitude, Babi... |
OMIM:618279 |
Igg4-Related Submandibular Gland Disease |
|
Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibular glands, Sialadenitis, ... |
ORPHA:449432 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Vomiting, Decreased lacrimation, Fasci... |
ORPHA:39812 |
Autoimmune Disease, Susceptibility To, 1 |
|
Hashimoto thyroiditis |
OMIM:607836 |
Muckle-Wells Syndrome |
|
Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, Delayed puberty, Arthritis,... |
ORPHA:575 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Malar rash, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune ... |
OMIM:603909 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Hydroa Vacciniforme |
|
Papulovesicular eruption, Epiphora, Keratitis, Eczematoid dermatitis, Malar rash, Superficial der... |
ORPHA:330058 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Uveitis |
OMIM:617044 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Otitis media, Recurrent sinusitis |
OMIM:618781 |
Keratoendotheliitis Fugax Hereditaria |
|
Epiphora, Keratitis |
OMIM:148200 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Keratitis, Elevated bronchoalveolar lavage fluid neutrophil proporti... |
OMIM:608710 |
X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Failure to thrive, Osteomyelitis, Autoi... |
ORPHA:47 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Optic disc hypoplasia, Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Vocal cord paresis, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, ... |
OMIM:607706 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulat... |
ORPHA:319552 |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
|
Alacrima, Gastroesophageal reflux, Impotence |
OMIM:608088 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Rheumatoid arthritis, Autoimmunity, Knee osteoarthritis, Antinuclear antibody positivity, Oligoar... |
ORPHA:85410 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... |
OMIM:607765 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy |
OMIM:610381 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Autosomal Agammaglobulinemia |
|
Bronchiectasis, Diarrhea, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, High palate, Ar... |
ORPHA:33110 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
Glycerol Kinase Deficiency |
|
Vomiting, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Episodic vomiti... |
OMIM:307030 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ... |
OMIM:308230 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ... |
DECIPHER:59 |
Hypocomplementemic Urticarial Vasculitis |
|
Diarrhea, Emphysema, Episcleritis, Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Arthr... |
ORPHA:36412 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Fasciculations, Decreased compound... |
OMIM:600882 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hypohidrosis, Hepatitis |
ORPHA:363523 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decr... |
OMIM:304790 |
Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Retinal detachment, Acute infectious pneumonia, Endocarditis, Gastroi... |
ORPHA:73263 |
Muscular Hypertonia, Lethal |
|
Pneumonia |
OMIM:254120 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc... |
ORPHA:848 |
Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... |
ORPHA:289390 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Hepatosplenomegaly, Abnormal intestine morphology... |
ORPHA:391487 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Allergic rhinitis, Recurrent otitis media, Hashimoto thyroiditis, Antinuclear antibody positivity... |
OMIM:614468 |
Central Areolar Choroidal Dystrophy |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... |
ORPHA:75377 |
Insulin Autoimmune Syndrome |
|
Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmunity, Weight loss, Hyp... |
ORPHA:411593 |
Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Diarrhea, Vomiting, Eczematoid dermatitis, Failure to thrive, Recurrent... |
OMIM:212750 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia |
OMIM:300299 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... |
OMIM:143200 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Gastrointestinal dysmotility, Recurrent skin infections, Decreased lacrimation, Hypohidrosis |
OMIM:616488 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Adrenal insufficiency, Hepatic ste... |
OMIM:619386 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Conjunctivitis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Neutropenia, ... |
OMIM:603552 |
Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Vomiting, Pancreatic adenocarcinoma, Chronic ca... |
ORPHA:103918 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia... |
OMIM:308240 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:172 |
Reticular Dysgenesis |
|
Diarrhea, Aplasia/Hypoplasia of the thymus, Failure to thrive, Skin rash, Weight loss, Recurrent ... |
ORPHA:33355 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Chorea, Hemiplegia/hemiparesis, Pancreatitis, Hepatomegaly, Dystonia, Choreoathetosis |
ORPHA:289916 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:618254 |
Neutral Lipid Storage Myopathy |
|
Fasciculations, Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Cholecy... |
ORPHA:98908 |
Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
Nocardiosis |
|
Lymphadenitis, Scleritis, Weight loss, Endocarditis, Cutaneous abscess, Osteomyelitis, Pleural ef... |
ORPHA:31204 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... |
ORPHA:158057 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibod... |
ORPHA:464370 |
Immunodeficiency 11A |
|
Pneumocystis jirovecii pneumonia, Agammaglobulinemia, Reduced antigen-specific T cell proliferati... |
OMIM:615206 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, Babinski sign, CNS de... |
OMIM:249900 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... |
OMIM:167800 |
Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo... |
OMIM:606777 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
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Hypertrophic nerve changes, Tongue fasciculations, Decreased motor nerve conduction velocity, Per... |
OMIM:145900 |
Immunodeficiency 19 |
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Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent... |
OMIM:615617 |
Birdshot Chorioretinopathy |
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Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
Immunodeficiency 109 With Lymphoproliferation |
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Pancytopenia, Splenomegaly, Recurrent sinusitis, Hodgkin lymphoma, Generalized lymphadenopathy, A... |
OMIM:620282 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp... |
OMIM:618987 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
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Spasticity, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Orthostatic hy... |
OMIM:169500 |
Peripheral Cone Dystrophy |
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Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... |
OMIM:618986 |
Hyperleucine-Isoleucinemia |
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Retinal degeneration |
OMIM:238340 |
Ciliary Dyskinesia, Primary, 9 |
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Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
Galactose Epimerase Deficiency |
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Hepatomegaly, Jaundice, Weight loss, Splenomegaly |
ORPHA:79238 |
Galactosemia Iii |
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Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice |
OMIM:230350 |
Dietary Iron Overload Disease |
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Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Increased ci... |
ORPHA:139507 |
Igg4-Related Pachymeningitis |
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Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Eosinophilia, Pancreatitis... |
ORPHA:449427 |
Cowden Syndrome 1 |
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Varicocele, Thyroid adenoma, Colonic diverticula, Goiter, Furrowed tongue, Angioid streaks of the... |
OMIM:158350 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... |
ORPHA:231401 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... |
OMIM:194380 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Oculogastrointestinal Muscular Dystrophy |
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Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ... |
ORPHA:1876 |
Birdshot Chorioretinopathy |
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Posterior uveitis, Vitreous floaters, Retinal pigment epithelial atrophy, Abnormal chorioretinal ... |
OMIM:605808 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... |
OMIM:301074 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... |
OMIM:618534 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Optic atrophy, Failure to thrive, Splenomegaly, Pancreatitis, Hepatomegaly |
ORPHA:79312 |
Ciliary Dyskinesia, Primary, 46 |
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Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:619436 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Hepatosplenomegaly, Pleu... |
OMIM:618935 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Persistent CMV viremia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Aut... |
OMIM:618495 |
Inflammatory Bowel Disease 11 |
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Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss |
OMIM:191390 |
Thyroid Lymphoma |
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Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dysphagia |
ORPHA:97285 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
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Recurrent bronchopulmonary infections, Macular degeneration |
ORPHA:85334 |
Immunodeficiency 25 |
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Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Protracted di... |
OMIM:610163 |
Krabbe Disease |
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Optic atrophy, Progressive spasticity, Vomiting, Decreased nerve conduction velocity, Peripheral ... |
OMIM:245200 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced... |
OMIM:224100 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
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Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho... |
ORPHA:71277 |
Whipple Disease |
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Uveitis, Diarrhea, Gastrointestinal hemorrhage, Splenomegaly, Infectious encephalitis, Myositis, ... |
ORPHA:3452 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
Tyrosinemia Type 1 |
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Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma |
ORPHA:882 |
Retinitis Pigmentosa 11 |
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Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
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Neutrophilia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Leukocytosis, ... |
OMIM:620565 |
Red Cell Phospholipid Defect With Hemolysis |
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Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
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Vocal cord paresis, Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neu... |
ORPHA:101097 |
Kilquist Syndrome |
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Gastroesophageal reflux, Xerostomia, Alacrima, Intestinal malrotation, Chronic constipation, Midg... |
OMIM:619080 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Recurrent mycobacterial infections, Decreased circulating IgG level, Inflammation of the large in... |
ORPHA:98813 |
Metachromatic Leukodystrophy |
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Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Chorea, Cholecystit... |
OMIM:250100 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, Elevated circulatin... |
OMIM:619868 |
Fetal Cytomegalovirus Syndrome |
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Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... |
ORPHA:294 |
Recessive Mitochondrial Ataxia Syndrome |
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Sensory axonal neuropathy, Limb dysmetria, Dysmetria, Hashimoto thyroiditis, Abnormality of centr... |
ORPHA:94125 |
Immunodeficiency 82 With Systemic Inflammation |
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Diarrhea, Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis m... |
OMIM:619381 |
Immunoglobulin Kappa Light Chain Deficiency |
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Diarrhea, Recurrent respiratory infections, Absent circulating immunoglobulin kappa chain, Recurr... |
OMIM:614102 |
Adult-Onset Still Disease |
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Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... |
ORPHA:829 |
Sarcoidosis, Susceptibility To, 1 |
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Inflammation of the large intestine, Abnormal salivary gland morphology, Emphysema, Pleural effus... |
OMIM:181000 |
Charcot-Marie-Tooth Disease, Type 4A |
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Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Decreased mot... |
OMIM:214400 |
Hereditary Chronic Pancreatitis |
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Pancreatic calcification, Jaundice, Recurrent pancreatitis, Abnormal circulating enzyme concentra... |
ORPHA:676 |
Immunodeficiency 27A |
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Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Weigh... |
OMIM:209950 |
Alopecia Areata 1 |
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Autoimmunity |
OMIM:104000 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ... |
OMIM:619220 |
Selective Igm Deficiency |
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Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Stomach can... |
ORPHA:331235 |
Aids Wasting Syndrome |
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Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration |
ORPHA:90081 |
Immunodeficiency 62 |
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Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c... |
OMIM:618459 |
Spondyloarthropathy, Susceptibility To, 1 |
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Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a... |
OMIM:106300 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... |
ORPHA:79301 |
Retinitis Pigmentosa 13 |
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Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Goiter, Hashimoto thyroiditis, Paralysis, Hypothyroidism, Abnormal autonomic nervous system physi... |
ORPHA:83601 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Eczematoid dermatitis, Failure to thrive in infancy, Increased circulating IgE level, Reduced del... |
OMIM:617241 |
Niemann-Pick Disease, Type B |
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Sea-blue histiocytosis, Splenomegaly, Anemia, Decreased acid sphingomyelinase activity, Thrombocy... |
OMIM:607616 |
C1Q Deficiency 2 |
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Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody... |
OMIM:620321 |
Hyperparathyroidism 2 With Jaw Tumors |
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Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Pa... |
OMIM:145001 |
Immunodeficiency 18 |
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Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente... |
OMIM:615615 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
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Chronic otitis media, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Male... |
OMIM:300991 |
Retinal Dystrophy And Microvillus Inclusion Disease |
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Recurrent upper respiratory tract infections, Optic disc pallor, Recurrent lower respiratory trac... |
OMIM:619446 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
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Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, High palat... |
OMIM:147060 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
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Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... |
OMIM:118200 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... |
OMIM:613494 |
Shigellosis |
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Pneumonia, Vomiting, Ulcerative colitis, Cholestasis, Bloody diarrhea, Failure to thrive in infan... |
ORPHA:810 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, Autoimmunity, Anti... |
ORPHA:85436 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
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Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ... |
OMIM:182815 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Abnormality of adrenal physiology, Alacrima, Achalasia |
OMIM:300858 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
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Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Optic atrophy, Tetraparesis, Paraparesis, Pancreatitis, Ataxia, Hepatomegaly, Choreoathetosis |
ORPHA:27 |
Paraparetic Variant Of Guillain-Barré Syndrome |
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Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis |
ORPHA:231445 |
Griscelli Syndrome |
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Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:381 |
Diabetes Mellitus, Ketosis-Prone |
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Autoimmunity, Beta-cell dysfunction |
OMIM:612227 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Giant cell hepatitis, Hepatic failure, Intrahepatic cholestasis, Elevated circulating hepatic tra... |
OMIM:214950 |
Malt Lymphoma |
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Posterior uveitis, Abnormality of the thyroid gland, Constipation, Weight loss, Hyperhidrosis, Re... |
ORPHA:52417 |
Optic Atrophy 6 |
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Optic atrophy, Retinal degeneration |
OMIM:258500 |
Ciliary Dyskinesia, Primary, 51 |
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Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... |
OMIM:620438 |
Systemic Capillary Leak Syndrome |
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Diarrhea, Pleural effusion, Pulmonary edema, Weight loss, Pancreatitis, Myocarditis, Pericarditis |
ORPHA:188 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Familial Adenomatous Polyposis |
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Stomach cancer, Hepatoblastoma, Desmoid tumors, Neoplasm of the adrenal gland, Colorectal polypos... |
ORPHA:733 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
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Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... |
OMIM:608184 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
Wolman Disease |
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Hepatic failure, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, Hepatomega... |
ORPHA:75233 |
Scrub Typhus |
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Skin rash, Splenomegaly, Infectious encephalitis, Hyperhidrosis, Myocarditis, Anterior uveitis |
ORPHA:83317 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Dystonia, Peripheral demyelination, Ataxia |
OMIM:616684 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Decreased serum estradiol, Decreased motor nerve conduction velocity, Peripheral demyelination, C... |
OMIM:604168 |
Bloom Syndrome |
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Pneumonia, Decreased circulating IgG level, Gastroesophageal reflux, Bronchitis, Neoplasm of the ... |
ORPHA:125 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration |
OMIM:617879 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Irregular menstruation, Macroglossia, Parotitis, Recurrent otitis media, Microcytic anemia, Incre... |
OMIM:256040 |
Ataxia-Pancytopenia Syndrome |
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Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
Spinocerebellar Ataxia Type 43 |
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Limb ataxia, Cogwheel rigidity, Gait ataxia, Peripheral axonal neuropathy, Decreased number of la... |
ORPHA:497764 |
Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatit... |
OMIM:620632 |
Sjogren Syndrome |
|
Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne... |
OMIM:270150 |
Cach Syndrome |
|
Optic atrophy, Spasticity, Vomiting, Hepatosplenomegaly, Limb ataxia, Dysmetria, Hemiparesis, Tru... |
ORPHA:135 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... |
OMIM:615451 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, Lacrimation abnormality, Hypogonadotropic hypogonadism, High palate, Cleft palate |
ORPHA:1135 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Retinal degeneration, Rod-con... |
OMIM:615982 |
Juvenile Xanthogranuloma |
|
Asymmetry of iris pigmentation, Abnormal oral mucosa morphology, Iritis, Myeloproliferative disor... |
ORPHA:158000 |
Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Meconium ileus, Exocrine pancreatic insufficien... |
OMIM:219700 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Autoimmunity, Decreased circulating a... |
ORPHA:169079 |
Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Malar ras... |
ORPHA:90280 |
Lyme Disease |
|
Infectious encephalitis, Arthritis, Uveitis |
ORPHA:91546 |
Q Fever |
|
Hepatosplenomegaly, Lupus anticoagulant, Antiphospholipid antibody positivity, Weight loss, Hepat... |
ORPHA:781 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Immunodeficiency 7 |
|
Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ... |
OMIM:615387 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Cinca Syndrome |
|
Abnormality of neutrophils, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Inflammatory abn... |
ORPHA:1451 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Celiac disease, Exocrine pan... |
OMIM:615952 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... |
OMIM:606482 |
Antiphospholipid Syndrome, Familial |
|
Keratitis, Central retinal artery occlusion, Retinal vasculitis, Scleritis, Lupus anticoagulant, ... |
OMIM:107320 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o... |
OMIM:601596 |
Isolated Agammaglobulinemia |
|
Pneumonia, Diarrhea, Failure to thrive, Autoimmunity, Otitis media, Skin rash, Arthritis, Sinusit... |
ORPHA:229717 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... |
ORPHA:1304 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... |
OMIM:118210 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Comedonal acne, Peripheral retinal atrophy, Retinal dystrophy |
OMIM:615147 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619658 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Vocal cord paralysis, Oral-pharyngeal dysphagia, Peripheral hypomyelination |
OMIM:616287 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... |
OMIM:620010 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Abnormal optic nerve morphology, Abnormality of the submandibular glands, Optic nerve... |
ORPHA:79078 |
Congenital Syphilis |
|
Pneumonia, Diarrhea, Keratitis, Hepatosplenomegaly, Chorioretinitis, Synovitis, Prolonged neonata... |
ORPHA:499009 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti... |
OMIM:613502 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Retinitis Pigmentosa 73 |
|
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:616544 |
Immunodeficiency 116 |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
Systemic Lupus Erythematosus 17 |
|
Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop... |
OMIM:301080 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Diarrhea, Gastroesophageal reflux, Vomit... |
ORPHA:298 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Agammaglobulinemia 3, Autosomal Recessive |
|