Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity, Oral mucosal blisters |
OMIM:169610 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Mucous Membrane Pemphigoid |
|
Autoimmunity, Gingivitis, Oral mucosal blisters |
ORPHA:46486 |
Masp2 Deficiency |
|
Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Malabsorption |
OMIM:137100 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine, Autoimmunity, Oral ulcer |
ORPHA:46488 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia |
ORPHA:444463 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity |
OMIM:216950 |
Lupus Erythematosus Tumidus |
|
Antinuclear antibody positivity, Autoimmune antibody positivity, Anti-La/SS-B antibody positivity... |
ORPHA:90283 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Abnormal pituitar... |
ORPHA:64744 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue |
ORPHA:314652 |
Igg4-Related Submandibular Gland Disease |
|
Autoimmunity, Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of ... |
ORPHA:449432 |
Pemphigus Erythematosus |
|
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, O... |
ORPHA:79480 |
Subacute Cutaneous Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... |
ORPHA:163525 |
Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Autoimmunity, Systemic lupus erythematosus |
ORPHA:411593 |
Inclusion Body Myositis |
|
Autoimmunity |
ORPHA:611 |
Sjogren Syndrome |
|
Xerostomia, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Autoimmunity |
OMIM:617006 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Autoimmunity, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivity, Xe... |
ORPHA:79078 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Celiac disease, Anti-U1 ribonucleop... |
OMIM:619375 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Febrile Infection-Related Epilepsy Syndrome |
|
Autoimmunity |
ORPHA:163703 |
Muir-Torre Syndrome |
|
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Pemphigus Vulgaris |
|
Autoimmunity, Abnormal oral cavity morphology |
ORPHA:704 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity |
ORPHA:231154 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Autoimmunity, Anti-dsDNA antibody positivity, Oral ulcer |
ORPHA:567544 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Autoimmunity, Antinuclear antibody positivity, Enlarged polycystic ovaries, Sys... |
ORPHA:2298 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:48377 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Celiac disease, Abnormali... |
OMIM:615952 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Rheumatoid arthritis, Neo... |
ORPHA:100026 |
Acquired Ichthyosis |
|
Autoimmunity |
ORPHA:454 |
Type 1 Diabetes Mellitus |
|
Autoimmunity |
OMIM:222100 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Autoimmunity, Decreased response to growth hormone stimulation test, Pituitary adenoma, Adrenocor... |
ORPHA:91354 |
Al Amyloidosis |
|
Macroglossia, Abnormal salivary gland morphology, Xerostomia |
ORPHA:85443 |
Acquired Partial Lipodystrophy |
|
Autoimmunity |
ORPHA:79087 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90036 |
Unclassified Myelodysplastic Syndrome |
|
Autoimmunity |
ORPHA:98827 |
Monosomy 18P |
|
Autoimmunity, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti... |
ORPHA:1598 |
Melioidosis |
|
Abnormal parotid gland morphology, Parotitis |
ORPHA:31202 |
Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... |
ORPHA:90060 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Autoimmune th... |
OMIM:615559 |
Anti-Glomerular Basement Membrane Disease |
|
Autoimmunity, Persistence of primary teeth |
ORPHA:375 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Juvenile rheumatoid arthritis, Autoimmunity, Hashimoto thyroiditis |
ORPHA:275 |
Preeclampsia |
|
Autoimmunity, Polycystic ovaries |
ORPHA:275555 |
Brachydactylous Dwarfism, Mseleni Type |
|
Autoimmunity |
ORPHA:2619 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity |
ORPHA:277 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... |
OMIM:154500 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Alveolar bone loss around teeth, Autoimmunity, Hiatus hernia, Intestinal perforation, Periodontit... |
OMIM:130080 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Autoimmunity, Autoimmune thrombocytopenia |
OMIM:614470 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... |
ORPHA:2363 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity |
ORPHA:169079 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Autoimmunity, Anti-thyroid peroxidase antibody positivity, Neutropenia in presence of anti-neutro... |
ORPHA:228426 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90033 |
Dermatitis Herpetiformis |
|
Autoimmunity, Malabsorption |
ORPHA:1656 |
Activated Pi3K-Delta Syndrome |
|
Abnormal intestine morphology, Autoimmunity, Intestinal lymphoid nodular hyperplasia |
ORPHA:397596 |
Igg4-Related Aortitis |
|
Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivity, Intestinal obstr... |
ORPHA:449400 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Autoimmunity |
OMIM:618495 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology |
ORPHA:252164 |
C3 Glomerulopathy |
|
Autoimmunity, C3 nephritic factor positivity |
ORPHA:329918 |
Kikuchi-Fujimoto Disease |
|
Antinuclear antibody positivity, Oral ulcer, Enlargement of parotid gland |
ORPHA:50918 |
Limited Cutaneous Systemic Sclerosis |
|
Autoimmunity |
ORPHA:220402 |
Igg4-Related Ophthalmic Disease |
|
Antinuclear antibody positivity, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrim... |
ORPHA:449563 |
Bullous Pemphigoid |
|
Autoimmunity |
ORPHA:703 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Intestinal obstruction, Jejunal atresia, Autoimmunity, Ileal atresia... |
OMIM:243150 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se... |
OMIM:604292 |
Lymphoproliferative Syndrome 1 |
|
Stomatitis, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia |
OMIM:613011 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Autoimmune hemolytic anemia, Autoimmunity, Decreased response to growt... |
ORPHA:1855 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Autoimmunity |
ORPHA:293964 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Antinuclear antibody positivity, Autoimmunity, Rheumatoid arthritis |
ORPHA:85410 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Autoimmunity |
OMIM:615387 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia |
ORPHA:760 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Autoimmunity |
ORPHA:85414 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Inflammation of the large intestine, Autoimmunity, Conical tooth |
ORPHA:98813 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopen... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune hypoparathyroi... |
ORPHA:227982 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Autoimmunity |
ORPHA:3453 |
Autoimmune Hypoparathyroidism |
|
Autoimmune antibody positivity, Autoimmunity, Autoimmune hypoparathyroidism |
ORPHA:36913 |
Igg4-Related Kidney Disease |
|
Antinuclear antibody positivity, Sialadenitis, Abnormality of the anterior pituitary, Rheumatoid ... |
ORPHA:449395 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Abnormal salivary gland morphology |
OMIM:181000 |
Thymoma |
|
Autoimmunity, Anti-acetylcholine receptor antibody positivity, Ulcerative colitis, Systemic lupus... |
ORPHA:99867 |
X-Linked Agammaglobulinemia |
|
Glossoptosis, Autoimmunity, Malabsorption |
ORPHA:47 |
Pemphigus Foliaceus |
|
Abnormal oral mucosa morphology, Autoimmunity, Oral ulcer |
ORPHA:79481 |
Adiposis Dolorosa |
|
Xerostomia, Autoimmunity |
ORPHA:36397 |
Overlap Myositis |
|
Antinuclear antibody positivity, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:206572 |
Cold Agglutinin Disease |
|
Autoimmunity |
ORPHA:56425 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Autoimmunity |
ORPHA:1303 |
Sarcoidosis |
|
Enlargement of parotid gland, Enlarged lacrimal glands, Parotitis |
ORPHA:797 |
Diffuse Cutaneous Systemic Sclerosis |
|
Carious teeth, Xerostomia, Autoimmunity, Malabsorption |
ORPHA:220393 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Glossopharyngeal Neuralgia |
|
Tongue pain, Autoimmunity, Abnormal palate morphology |
ORPHA:221098 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Autoimmunity, Hypocalcification of dental enamel |
ORPHA:169090 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Gastritis, Autoimmunity, Autoimmune thrombocytopenia, Malabsorption,... |
ORPHA:37042 |
Localized Scleroderma |
|
Autoimmunity, Abnormality of the dentition, Dental malocclusion, Abnormal upper lip morphology, E... |
ORPHA:90289 |
Macrophage Activation Syndrome |
|
Juvenile rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus |
ORPHA:158061 |
Blau Syndrome |
|
Abnormal salivary gland morphology, Xerostomia |
ORPHA:90340 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au... |
ORPHA:3261 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, ... |
ORPHA:572 |
Selective Igm Deficiency |
|
Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Neutropenia in presen... |
ORPHA:331235 |
Antisynthetase Syndrome |
|
Xerostomia, Autoimmunity |
ORPHA:81 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic lupus erythe... |
OMIM:607944 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Autoimmunity |
OMIM:618398 |
Livedoid Vasculopathy |
|
Antinuclear antibody positivity, Lupus anticoagulant, Autoimmunity, Systemic lupus erythematosus |
ORPHA:542643 |
Myasthenia Gravis |
|
Autoimmunity |
OMIM:254200 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Autoimmunity, Intestinal malrotation, Intestinal atresia, Hypoplasia... |
ORPHA:436252 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Autoimmunity |
OMIM:106100 |
Stiff-Person Syndrome |
|
Autoimmunity |
OMIM:184850 |
Lymphoid Interstitial Pneumonia |
|
Autoimmune antibody positivity, Autoimmunity, Rheumatoid arthritis |
ORPHA:79128 |
Nodular Non-Suppurative Panniculitis |
|
Autoimmunity |
ORPHA:33577 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Autoimmunity, Celiac disease, Pituitary adenoma, Adrenocorticotropic hormone ... |
ORPHA:199299 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Autoimmunity |
ORPHA:69665 |
Primary Biliary Cholangitis |
|
Antinuclear antibody positivity, Autoimmunity, Celiac disease |
ORPHA:186 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Autoimmunity, Celiac disease, Systemic lupus erythematosus, Rheumatoid arthritis |
ORPHA:183675 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Intestinal lymphedema, Autoimmunity, Malabsorption, Celiac disease, Intes... |
ORPHA:90363 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Lupus anticoagulant, Inflammation of the large intestine, Antiphospholipid antibody positivity, A... |
ORPHA:70591 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Antinuclear antibody positivity, Autoimmunity |
ORPHA:85436 |
Familial Hypocalciuric Hypercalcemia |
|
Peptic ulcer, Autoimmunity |
ORPHA:405 |