| Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
| Drug Metabolism, Poor, Cyp2D6-Related |
|
Neoplasm |
OMIM:608902 |
| Cancer, Familial, With In Vitro Radioresistance |
|
Neoplasm |
OMIM:114450 |
| Nasopharyngeal Carcinoma, Susceptibility To, 2 |
|
Neoplasm |
OMIM:161550 |
| Adamantinoma Of Long Bones |
|
Neoplasm |
OMIM:102660 |
| Multiple Self-Healing Squamous Epithelioma, Susceptibility To |
|
Neoplasm |
OMIM:132800 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Disseminated Superficial Actinic Porokeratosis |
|
Pruritus, Squamous cell carcinoma |
ORPHA:79152 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Squa... |
OMIM:613736 |
| Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
| Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... |
OMIM:619375 |
| Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
| Immunodeficiency 64 |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Bronchiectasis, B-cell lymphoma... |
OMIM:618534 |
| Li-Fraumeni Syndrome 2 |
|
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma |
OMIM:609265 |
| Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
| Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
| Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
| Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
| Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... |
OMIM:606719 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated hepatic transaminase |
OMIM:615395 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Non-Hodgkin lymphoma, Abnormal proportion of CD4-positive T cells, Abnormal serum ... |
ORPHA:3261 |
| Lichen Amyloidosis |
|
Pruritus |
ORPHA:49804 |
| Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
| Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Proteinuria, Autoimmunity, Increased CD4:CD8 ratio, Impaired ly... |
OMIM:617006 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... |
OMIM:619220 |
| Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
| Immunodeficiency 24 |
|
Partial absence of specific antibody response to tetanus vaccine, Respiratory tract infection, Ly... |
OMIM:615897 |
| Tuberous Sclerosis 2 |
|
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Optic nerve glioma, Hyp... |
OMIM:613254 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... |
OMIM:603909 |
| Tuberous Sclerosis 1 |
|
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Optic nerve glioma, Hyp... |
OMIM:191100 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... |
ORPHA:2688 |
| Muir-Torre Syndrome |
|
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... |
ORPHA:587 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Lymphoproliferative disorder, Hemolytic anemia, Autoimmune thrombocyt... |
OMIM:614470 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent bronchitis, Lymphoproliferative disorder, Decreased CD69 upregulation upon TCR activati... |
OMIM:300853 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... |
OMIM:601859 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... |
OMIM:618986 |
| Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... |
OMIM:613496 |
| Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Squamous cell carcinoma |
OMIM:618267 |
| Acquired Ichthyosis |
|
Pruritus, Multiple myeloma, Autoimmunity, Lymphoma, Neoplasm, Sarcoma, Renal insufficiency, Recur... |
ORPHA:454 |
| Meige Disease |
|
Angiosarcoma, Pleural effusion, Lymph node hypoplasia, Recurrent bacterial skin infections, Facia... |
ORPHA:90186 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Polyarticular art... |
OMIM:619281 |
| Keratosis, Familial Actinic |
|
Neoplasm, Uterine neoplasm, Carcinoma |
OMIM:148390 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... |
OMIM:247800 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity, Recurrent otitis... |
OMIM:618495 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... |
OMIM:202700 |
| Muir-Torre Syndrome |
|
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... |
OMIM:158320 |
| Autoimmune Hepatitis |
|
Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, Sclerosing cholangitis, Jau... |
ORPHA:2137 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... |
OMIM:240500 |
| Epidermodysplasia Verruciformis |
|
Pustule, Seborrheic dermatitis, Verrucae, Recurrent skin infections, Squamous cell carcinoma |
ORPHA:302 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Abnormality of the peritoneum |
ORPHA:2023 |
| C3 Glomerulopathy |
|
Hematuria, Acute kidney injury, Autoimmunity, Decreased serum complement C4, Membranoproliferativ... |
ORPHA:329918 |
| Immunodeficiency 72 With Autoinflammation |
|
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, I... |
OMIM:618982 |
| Igg4-Related Kidney Disease |
|
Increased circulating IgG1 level, Abnormality of mesentery morphology, Hematuria, Acute kidney in... |
ORPHA:449395 |
| Alopecia Areata 1 |
|
Autoimmunity, Alopecia totalis, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Monocytosis, Systemic lupus erythematosus, Acute myeloid leukemia, Leukopenia, Refractory anemia,... |
OMIM:616871 |
| Immunodeficiency 27A |
|
Increased circulating IgM level, Thrombocytosis, Pulmonary infiltrates, Increased inflammatory re... |
OMIM:209950 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel... |
ORPHA:276 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
| X-Linked Lymphoproliferative Disease |
|
Lymphocytosis, Burkitt lymphoma, B-cell lymphoma, Pancytopenia, Histiocytosis, Increased B cell c... |
ORPHA:2442 |
| Cowden Syndrome |
|
Adenoma sebaceum, Neoplasm, Colorectal polyposis, Conjunctival hamartoma, Breast carcinoma, Hamar... |
ORPHA:201 |
| Multiple Endocrine Neoplasia, Type I |
|
Esophagitis, Subcutaneous lipoma, Elevated circulating growth hormone concentration, Increased ci... |
OMIM:131100 |
| Pgm3-Cdg |
|
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... |
ORPHA:443811 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial carcinoma, Mening... |
ORPHA:454840 |
| Chilblain Lupus |
|
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Pruritis on hand, ... |
ORPHA:90280 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Anal canal squamous carcinoma, Atopic dermatitis, Recurrent bacterial skin infections, Squamous c... |
ORPHA:217390 |
| Cheilitis Glandularis |
|
Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
| Schimke Immuno-Osseous Dysplasia |
|
Non-Hodgkin lymphoma, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8... |
ORPHA:1830 |
| Schopf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Apocrine hidrocystoma, Poroma, Squamous cell carcinoma |
OMIM:224750 |
| Sebocystomatosis |
|
Steatocystoma multiplex, Nephrolithiasis, Adenoma sebaceum |
ORPHA:841 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Lymphoproliferative disorder, Decreased circulating IgG level |
OMIM:242880 |
| Mantle Cell Lymphoma |
|
B-cell lymphoma, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Acute kidney injury, Decreased serum complement C4, Synovitis, Abnormal glomerular mes... |
ORPHA:567544 |
| Li-Fraumeni Syndrome |
|
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... |
OMIM:151623 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... |
OMIM:615008 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal... |
OMIM:613779 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatic steatosis |
OMIM:615595 |
| Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, H... |
OMIM:304790 |
| Hypocomplementemic Urticarial Vasculitis |
|
Skin rash, Pruritus, Hematuria, Renal insufficiency, Lymphadenopathy, Uveitis, Ascites, Arthritis... |
ORPHA:36412 |
| Temple Syndrome |
|
Cryptorchidism, Short philtrum, Hypercholesterolemia, Overweight, High palate, Flexion contractur... |
OMIM:616222 |
| Milroy Disease |
|
Hydrocele testis, Erysipelas, Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
| Immunodeficiency 47 |
|
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... |
OMIM:300972 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
| Familial Keratoacanthoma |
|
Neoplasm, Papilloma, Adenoma sebaceum |
ORPHA:493 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
| Leukonychia Totalis |
|
Nephrolithiasis, Blepharitis, Adenoma sebaceum |
ORPHA:2387 |
| Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Hematuria, Neoplasm of the liver, Thrombo... |
ORPHA:69077 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... |
ORPHA:169154 |
| C1Q Deficiency |
|
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Decreased s... |
OMIM:613652 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgA level, Uveitis, Punctate kera... |
OMIM:617388 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circula... |
ORPHA:277 |
| Lymphoproliferative Syndrome 1 |
|
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic ane... |
OMIM:613011 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Interstitial pneumonitis, Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, E... |
ORPHA:37042 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections,... |
OMIM:613179 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Respiratory tract infection, Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocy... |
ORPHA:444463 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, B-cell lymphoma, Lymphoma, Hepatomegaly, Hyperhidrosis, Breast carcinoma, Splenomegaly,... |
ORPHA:86893 |
| Immunodeficiency 23 |
|
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Bronchiectasi... |
OMIM:615816 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... |
OMIM:308240 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Pruritus, Hepatomegaly, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder, Eosinop... |
OMIM:607685 |
| Immunodeficiency 36 |
|
Bronchiectasis, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphati... |
OMIM:616005 |
| Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Pericarditis, Pleuritis, Thrombocytope... |
OMIM:152700 |
| Schnitzler Syndrome |
|
Skin rash, Pruritus, Increased circulating IgM level, Leukocytosis, Lymphoma, Hepatomegaly, Anemi... |
ORPHA:37748 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Hodgkin Lymphoma |
|
Pruritus, Lymphoma, Neoplasm, Hepatomegaly, Hyperhidrosis, Splenomegaly, Hemoptysis, Lymphadenopathy |
ORPHA:98293 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Autoimmunity, Hepatic steatosis, Glomerulopathy, Microscopic hematuria, Decreased ... |
ORPHA:79087 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated hepatic transaminase |
OMIM:618400 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma |
OMIM:618373 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase |
OMIM:616829 |
| Ollier Disease |
|
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Anemia, Visceral angiom... |
ORPHA:296 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Omenn Syndrome |
|
Pruritus, Autoimmunity, Thyroiditis, Hypothyroidism, Leukocytosis, Abnormal lymphocyte morphology... |
ORPHA:39041 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Squamous cell carcinoma |
OMIM:602540 |
| Xeroderma Pigmentosum Variant |
|
Basal cell carcinoma, Squamous cell carcinoma, Melanoma |
ORPHA:90342 |
| Pediatric Systemic Lupus Erythematosus |
|
Skin rash, Hematuria, Decreased serum complement C4, Discoid lupus rash, Leukopenia, Myositis, Re... |
ORPHA:93552 |
| Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... |
OMIM:607850 |
| Necrobiosis Lipoidica |
|
Squamous cell carcinoma, Inflammatory abnormality of the skin |
ORPHA:542592 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skin rash, Pustule, Thrombocytosis, Pulmonary fibrosis, Lymphopenia, Paratracheal lymphadenopathy... |
OMIM:615934 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, B-cell lymphoma, Colitis, Recurrent bronchio... |
OMIM:619164 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... |
OMIM:301045 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Progressive loss of faci... |
OMIM:608709 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... |
ORPHA:911 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma... |
OMIM:153600 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
| Schöpf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma |
ORPHA:50944 |
| Colorectal Cancer, Susceptibility To, 10 |
|
Colorectal polyposis, Endometrial carcinoma, Carcinoma |
OMIM:612591 |
| Classic Mycosis Fungoides |
|
Skin rash, Pruritus, Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Splenomegaly, Eczema... |
ORPHA:2584 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal macrophage morphology,... |
ORPHA:2585 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... |
OMIM:610163 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... |
OMIM:607594 |
| Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, D... |
OMIM:618261 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Azoospermia, Amenorrhea, Pleural effusion, Hepatocellular carcinoma, Impotence, Hepato... |
OMIM:235200 |
| Growth Hormone Insensitivity Syndrome |
|
Delayed eruption of teeth, Hypercholesterolemia, Abnormality of the mouth, Everted lower lip verm... |
ORPHA:181393 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Pruritus, Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomy... |
ORPHA:523 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jon... |
ORPHA:100024 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Hepatome... |
ORPHA:83469 |
| Alpha-Heavy Chain Disease |
|
Lymphoma, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Premature ovarian in... |
ORPHA:100025 |
| Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis |
ORPHA:139491 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:617514 |
| Diethylstilbestrol Syndrome |
|
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... |
ORPHA:1916 |
| Primary Membranoproliferative Glomerulonephritis |
|
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... |
ORPHA:54370 |
| Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
| Erythroleukemia, Familial, Susceptibility To |
|
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... |
OMIM:133180 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... |
OMIM:619201 |
| Lymphoproliferative Syndrome 2 |
|
Hemophagocytosis, Lymphoproliferative disorder, Recurrent pneumonia, Decreased circulating antibo... |
OMIM:615122 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal morphology of female internal genitalia, Neoplasm of the skin, Adenoma sebaceum |
ORPHA:3353 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... |
OMIM:617156 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... |
OMIM:615513 |
| Immunodeficiency 48 |
|
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Hemochromatosis, Type 2B |
|
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Cardiomyopathy |
OMIM:613313 |
| Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Bronchiectasis, Follicular hyperplasia, Ly... |
OMIM:619126 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Primary Sjögren Syndrome |
|
Cryoglobulinemia, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Decreased ser... |
ORPHA:289390 |
| Felty Syndrome |
|
Pleuritis, Pericarditis, Recurrent urinary tract infections, Neutropenia, Anemia, Sinusitis, Lymp... |
ORPHA:47612 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... |
OMIM:614700 |
| Porokeratosis |
|
Pruritus, Squamous cell carcinoma of the skin |
ORPHA:79358 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... |
OMIM:256020 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy |
OMIM:608971 |
| Selective Igm Deficiency |
|
Non-Hodgkin lymphoma, Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to ... |
ORPHA:331235 |
| Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
| Unclassified Myelodysplastic Syndrome |
|
Myelodysplasia, Autoimmunity, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplas... |
ORPHA:98827 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level |
OMIM:314000 |
| Liver Failure, Infantile, Transient |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... |
OMIM:613070 |
| Preeclampsia |
|
Abnormality of the hepatic vasculature, Acute kidney injury, Autoimmunity, Polycystic ovaries, Th... |
ORPHA:275555 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis, Complement deficiency, Systemic lupus erythematosus |
OMIM:614380 |
| Amyloidosis, Familial Visceral |
|
Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, P... |
OMIM:105200 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic steatosis, Hepatic failure |
OMIM:617872 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypercholesterolemia, Azoospermia, Oligospermia, Hypertriglyceridemia, Decreased HDL cholesterol ... |
OMIM:615703 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydrocele testis, Hematuria, Acute kidney injury, Renal insufficiency, Systemic lupus erythematos... |
ORPHA:49041 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome |
ORPHA:69063 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
| Classic Hodgkin Lymphoma |
|
Skin rash, Pruritus, Lymphoma, Neoplasm, Hepatomegaly, Hyperhidrosis, Splenomegaly, Hemoptysis, B... |
ORPHA:391 |
| Cystic Echinococcosis |
|
Ovarian cyst, Peritoneal abscess, Increased circulating antibody level, Hepatic cysts, Abnormalit... |
ORPHA:400 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Eosinophilic liver infiltration, Hypothyroidism, Hepatic cysts, Membranous nep... |
OMIM:618999 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Membranoproliferative glomerulonephritis, Progressive loss of facial adipose tissue, N... |
OMIM:613913 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceridemia, Hyperlipi... |
OMIM:232700 |
| Congenital Atransferrinemia |
|
Anemia, Arthritis |
ORPHA:1195 |
| Sézary Syndrome |
|
Pruritus, Neoplasm of the skin, Erythroderma, Abnormal lymphocyte morphology, Abnormal pleura mor... |
ORPHA:3162 |
| Linear Nevus Sebaceus Syndrome |
|
Cavernous hemangioma, Adenoma sebaceum |
ORPHA:2612 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Myelodysplasia, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurre... |
OMIM:608184 |
| Boutonneuse Fever |
|
Skin rash, Increased circulating IgM level, Maculopapular exanthema, Thrombocytopenia, Increased ... |
ORPHA:83313 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Cowden Syndrome 1 |
|
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Carcinoma, Thyroiditis, Decreased ci... |
OMIM:158350 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Squamous cell carcinoma |
OMIM:613988 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... |
OMIM:615234 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Hodgkin ... |
OMIM:236000 |
| Cheilitis Glandularis |
|
Squamous cell carcinoma, Carcinoma |
OMIM:118330 |
| Tumor Predisposition Syndrome |
|
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma |
OMIM:614327 |
| Gamma-Heavy Chain Disease |
|
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rheumatoid art... |
ORPHA:100026 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Lymphoproliferative disorder, Systemic lupus erythematosus, Abnormal urinary color, Autoimmune he... |
ORPHA:90033 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Skin rash, Recurrent upper and lower respiratory tract infections, Autoimmunity, Lymphadenitis, A... |
ORPHA:331206 |
| Brucellosis |
|
Intrarenal abscess, Pericarditis, Pneumonia, Increased circulating IgG level, Hypersplenism, Leuk... |
ORPHA:1304 |
| Retinitis Pigmentosa 59 |
|
Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis |
OMIM:613861 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis |
OMIM:613877 |
| Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Decreased serum complement fac... |
ORPHA:2134 |
| Hemochromatosis, Type 2A |
|
Infertility, Cirrhosis, Azoospermia, Dilated cardiomyopathy, Amenorrhea, Hepatomegaly, Splenomega... |
OMIM:602390 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... |
OMIM:601894 |
| Yellow Nail Syndrome |
|
Biliary tract neoplasm, Renal neoplasm, Pleuritis, Bronchiectasis, Hypoplasia of lymphatic vessel... |
ORPHA:662 |
| Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Reversible renal failure, Uveitis, Circulating immune complexes, Acute tubulointersti... |
OMIM:607665 |
| Cutaneous Neuroendocrine Carcinoma |
|
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Chronic noninfectious lymphade... |
ORPHA:79140 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy |
OMIM:611771 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase |
OMIM:617093 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Myelodysplasia, Leukocytosis, Refractory anemia with ringed s... |
ORPHA:75564 |
| Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Abnormal urinary color, Autoimmunity, Lymphoma, Splenomegaly, Abnormal leukocyt... |
ORPHA:98375 |
| Infantile Myofibromatosis |
|
Abnormality of the kidney, Gingival fibromatosis, Benign neoplasm of the central nervous system, ... |
ORPHA:2591 |
| Nephrotic Syndrome, Type 10 |
|
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... |
OMIM:615861 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular Schwannoma, Carcinoma |
OMIM:603641 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... |
OMIM:601457 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Facial edema, Xerostomia, Increased circulating IgG level, Abno... |
ORPHA:449432 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Chronic oral candidiasis, Recurrent upper and lower respiratory tract infections, Auto... |
ORPHA:275 |
| Multicentric Reticulohistiocytosis |
|
Histiocytosis, Arthritis |
ORPHA:139436 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Mesangial hypercellularity, Hem... |
OMIM:616414 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... |
OMIM:102700 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly |
OMIM:608540 |
| C3 Glomerulopathy 3 |
|
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
| Lysinuric Protein Intolerance |
|
Proteinuria, Argininuria, Leukopenia, Anemia, Hyperlysinuria, Hemophagocytosis, Cirrhosis, Abnorm... |
ORPHA:470 |
| Apolipoprotein A-I Deficiency |
|
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly |
ORPHA:425 |
| Autoimmune Lymphoproliferative Syndrome, Type V |
|
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... |
OMIM:616100 |
| Systemic Sclerosis |
|
Hypohidrosis, Pruritus, Acute kidney injury, Pericarditis, Chronic kidney disease, Myocarditis, R... |
ORPHA:90291 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, ... |
OMIM:618935 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Tooth malposition, Abnormality of dental morphology, Hypoplasia of penis, Hypogon... |
ORPHA:85274 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Lymphoma, Hodgkin lymphoma, Nephrocalcinosis, Abnormality of the lymph nodes |
ORPHA:33111 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly |
ORPHA:882 |
| Lcat Deficiency |
|
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... |
ORPHA:650 |
| Immunodeficiency 60 |
|
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Pulmonary infi... |
OMIM:618394 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Hematuria, Abnormal respiratory system morphology, Vulvar neoplasm, Tracheobronchial leiomyomatos... |
ORPHA:1018 |
| Hyper-Igd Syndrome |
|
Skin rash, Serositis, Chronic oral candidiasis, Lymphadenitis, Leukocytosis, Renal angiomyolipoma... |
OMIM:260920 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
| Pauci-Immune Glomerulonephritis |
|
Pulmonary hemorrhage, Arteritis, Acute kidney injury, Scleritis, Abnormality of the pulmonary vas... |
ORPHA:93126 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Autoimmunity, Glomerulopathy, Arthritis, Anemia, Hemoptysis, Renal insufficiency, Pulm... |
ORPHA:375 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Mycosis Fungoides |
|
Pruritus, Lymphoma, Eczema, Psoriasiform dermatitis, Neoplasm of the skin |
OMIM:254400 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:610717 |
| Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Hodgkin lymphoma, Increased circulating IgG level, Leukopenia, Osteoarthrit... |
ORPHA:2298 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... |
OMIM:618987 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic steatosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Pancreatitis |
OMIM:603471 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... |
ORPHA:79506 |
| Common Variable Immunodeficiency |
|
Recurrent bronchitis, Gastrointestinal stroma tumor, Hemolytic anemia, Autoimmune thrombocytopeni... |
ORPHA:1572 |
| Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Aminoaciduria, Glycosuria, Stage 5 ch... |
OMIM:618913 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... |
OMIM:137950 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypercholesterolemia, Lipodystrophy, Hepatomegaly, Hypertriglyceridemia, Splenomega... |
OMIM:612526 |
| Chondrocalcinosis 2 |
|
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy |
OMIM:118600 |
| Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Abnormal vagina morphology, Hemangiomatosis, Patent ductus arteriosus, Throm... |
ORPHA:2123 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Chronic otitis media, Recurrent respiratory infections... |
ORPHA:3226 |
| Li-Fraumeni Syndrome |
|
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... |
ORPHA:524 |
| Severe Combined Immunodeficiency, X-Linked |
|
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... |
OMIM:300400 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
| African Iron Overload |
|
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Hepatic steatosis, Hepatocellular carcinoma... |
ORPHA:139507 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... |
ORPHA:231401 |
| Lymphedema-Distichiasis Syndrome |
|
Webbed neck, Fibrosarcoma, Recurrent urinary tract infections, Patent ductus arteriosus, Glomerul... |
ORPHA:33001 |
| Lymphatic Filariasis |
|
Hydrocele testis, Epididymitis, Abnormal lung morphology, Hematuria, Urethral obstruction, Abnorm... |
ORPHA:2035 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Carcinoma, Hypothy... |
OMIM:610755 |
| Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:617609 |
| Adrenomyodystrophy |
|
Hepatic steatosis, Pituitary corticotropic cell adenoma |
OMIM:300270 |
| Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... |
OMIM:178610 |
| Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Osteoarthritis, Sarcoma |
ORPHA:2762 |
| Papillon-Lefèvre Syndrome |
|
Pustule, Neoplasm of the skin, Chronic furunculosis, Recurrent cutaneous abscess formation, Recur... |
ORPHA:678 |
| Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... |
ORPHA:457083 |
| Desmoid Tumor |
|
Fibroma, Desmoid tumors, Hydronephrosis, Intestinal polyposis, Abnormality of the upper urinary t... |
ORPHA:873 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Macroglossia, Adipose tissue loss, Lipodystrophy, Polycystic ovaries, Hepat... |
ORPHA:528 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Knee flexion co... |
OMIM:604416 |
| Ovarian Fibrothecoma |
|
Peritonitis, Abnormality of the ovary, Pleural effusion, Fibrosarcoma, Abnormality of the endomet... |
ORPHA:314478 |
| Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Mul... |
ORPHA:163634 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Cryptorchidism, Short philtrum, Hypercholesterolemia, Narrow mouth, Truncal obesity, Small for ge... |
ORPHA:96184 |
| Paraneoplastic Pemphigus |
|
Thymoma, Sarcoma, B-cell lymphoma |
ORPHA:63455 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Limitation of joint mobility, Eosinophilia, Arthritis |
ORPHA:2582 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... |
OMIM:619374 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria |
OMIM:189800 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hypohidrosis, Cryptorchidism, Unilateral renal agenesis, Testicular seminoma, Renal insufficiency... |
ORPHA:281090 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Bronchiolitis, Recurrent otitis media, Recurrent respiratory infections, Ext... |
OMIM:615993 |
| Whim Syndrome 1 |
|
Abnormal morphology of female internal genitalia, Bronchiectasis, Recurrent upper respiratory tra... |
OMIM:193670 |
| Diffuse Alveolar Hemorrhage |
|
Ground-glass opacification, Hematuria, Antineutrophil antibody positivity, Pulmonary fibrosis, Au... |
ORPHA:90060 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Reduced isohemagglutinin le... |
OMIM:614699 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... |
ORPHA:52901 |
| Analbuminemia |
|
Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Patent ductu... |
OMIM:616000 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... |
OMIM:615952 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis, Pulmonary infiltrates |
OMIM:235900 |
| Aicardi Syndrome |
|
Hemangioma, Carcinoma, Teratoma, Recurrent pneumonia, Precocious puberty, Lipoma, Anteverted nare... |
OMIM:304050 |
| Immunodeficiency 70 |
|
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... |
OMIM:618969 |
| Mastocytosis |
|
Pruritus, Chronic leukemia, Hepatomegaly, Sarcoma, Splenomegaly, Mastocytosis, Acute leukemia |
ORPHA:98292 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... |
OMIM:301006 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Respiratory tract infection, Acute kidney injury, Focal segmental glomerulosclerosis... |
ORPHA:567548 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Rheumatoid factor positive, Splenomegaly,... |
OMIM:618852 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... |
ORPHA:247806 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia |
OMIM:618165 |
| Spondyloenchondrodysplasia |
|
Skin rash, Systemic lupus erythematosus, Hematuria, Autoimmune thrombocytopenia, Proteinuria, Aut... |
ORPHA:1855 |
| Gracile Syndrome |
|
Elevated hepatic iron concentration, Hepatic steatosis, Cirrhosis, Cholestasis |
ORPHA:53693 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Neoplasm, Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:172 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Neoplasm of head and neck, Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnorma... |
ORPHA:97290 |
| Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency |
OMIM:610896 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:139406 |
| Legionnaires Disease |
|
Recurrent pharyngitis, Hematuria, Pericarditis, Endocarditis, Abnormal lung morphology, Myocardit... |
ORPHA:549 |
| Follicular Lymphoma |
|
Pleural effusion, Abnormality of the peritoneum, Lymphoma, Splenomegaly, Mediastinal lymphadenopa... |
ORPHA:545 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Abnormal natural killer cell physiology, Recurrent upper respiratory tract infe... |
OMIM:613101 |
| Babesiosis |
|
Recurrent pharyngitis, Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Hyperhidrosis,... |
ORPHA:108 |
| Bazex Syndrome |
|
Pruritus, Liposarcoma, Neoplasm, Anemia, Lung adenocarcinoma |
ORPHA:166113 |
| Gardner Syndrome |
|
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... |
ORPHA:79665 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Myelodysplasia, Splenomegaly |
ORPHA:721 |
| Agammaglobulinemia, X-Linked |
|
Prostatitis, Epididymitis, Lymph node hypoplasia, Recurrent urinary tract infections, Pneumonia, ... |
OMIM:300755 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Immunodeficiency 54 |
|
Lymphoproliferative disorder, Adrenocorticotropic hormone excess, Adrenal insufficiency, Reduced ... |
OMIM:609981 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Pulmonary interstitial lymphocyte infiltra... |
OMIM:606367 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
| Xeroderma Pigmentosum, Variant Type |
|
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma |
OMIM:278750 |
| Waldenström Macroglobulinemia |
|
Cryoglobulinemia, Pulmonary infiltrates, Abnormality of neutrophils, Pleural effusion, Normocytic... |
ORPHA:33226 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Igg4-Related Ophthalmic Disease |
|
Non-Hodgkin lymphoma, Thyroiditis, Increased circulating IgG4 level, Sinusitis, Periorbital edema... |
ORPHA:449563 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... |
OMIM:300635 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Patent f... |
OMIM:618652 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Lack of facial subcutaneous fat, Lipodystrophy, Absence of subcutaneous fat... |
OMIM:606721 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... |
ORPHA:449400 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly |
OMIM:206400 |
| Neuraminidase Deficiency |
|
Bone-marrow foam cells, Vacuolated lymphocytes, Facial edema, Hepatomegaly, Ascites, Cardiomegaly... |
OMIM:256550 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hernia of the abdominal wall, Hypoplasia of penis, Aplasia/Hypoplasia of the test... |
ORPHA:3055 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Renal insufficiency, Nephropathy |
OMIM:614227 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Thrombocytopenia, Nephrotic synd... |
OMIM:254900 |
| Asbestos Intoxication |
|
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... |
ORPHA:2302 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Acne, Increased inflammatory response, Increased circulating antibody level, Arthritis, ... |
ORPHA:69126 |
| Epidermodysplasia Verruciformis, X-Linked |
|
Verrucae, Squamous cell carcinoma of the skin |
OMIM:305350 |
| Leukocyte Adhesion Deficiency |
|
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... |
ORPHA:2968 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
| Trimethylaminuria |
|
Neutropenia, Splenomegaly, Anemia, Recurrent pneumonia, Trimethylaminuria |
OMIM:602079 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased liver function, Portal f... |
OMIM:614300 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Autoimmunity, Chronic otitis media, Pneumonia, Thrombocytopenia, Neoplasm, Hepa... |
ORPHA:169090 |
| Chromomycosis |
|
Pruritus, Multiple cutaneous malignancies, Squamous cell carcinoma |
ORPHA:182 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Gonadal dysgenesis, Stage 5 chronic kidney disease, Nephrotic... |
OMIM:136680 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Aplasia/Hypoplasia of the lungs, Ascites, Anemia, Hypoplasia of penis, Hypospadias |
ORPHA:1046 |
| Cryoglobulinemic Vasculitis |
|
Hematuria, Cryoglobulinemia, Viral hepatitis, Circulating immune complexes, Glomerulopathy, Hepat... |
ORPHA:91138 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Autoimmunity, Lymphopenia, Decreased c... |
OMIM:617780 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Antineutrophil antibody positivity, Lymphopenia, Leukemia, Periodontitis, Neutropeni... |
ORPHA:486 |
| Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
| Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
| Secondary Intestinal Lymphangiectasia |
|
Autoimmunity, Decreased circulating antibody level, Lymphopenia, Pleural effusion, Neoplasm, Chyl... |
ORPHA:90363 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Cholestatic liver disease, Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morph... |
OMIM:602114 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Carcinoma |
OMIM:615225 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis |
OMIM:615980 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... |
OMIM:613673 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Hepatomegaly, Splenomegaly |
OMIM:606445 |
| Tempi Syndrome |
|
Hemangioma, Increased hematocrit, Polycythemia, Increased circulating IgG level, Ascites, Abnorma... |
ORPHA:284227 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Macrovesicular hepatic steatosis, Patent ductus arteriosus, Neutropenia, Leukopenia, Anemia, Wide... |
OMIM:617303 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| X-Linked Agammaglobulinemia |
|
Skin rash, Recurrent pneumonia, Abnormal lung morphology, Autoimmunity, Chronic otitis media, Neu... |
ORPHA:47 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... |
OMIM:606843 |
| Transcobalamin Deficiency |
|
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... |
ORPHA:859 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Neoplasm of head and neck, Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Papilla... |
ORPHA:319487 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele... |
OMIM:619048 |
| Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
| Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Recurrent respiratory infections, Antinuclear antibody p... |
OMIM:613495 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Cirrhosis, Abnormality of the kidney, Hepatocellular carcinoma, Hepatomegaly, Hepatic fibrosis, P... |
ORPHA:369 |
| Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Abnormal pulmonary thor... |
ORPHA:3392 |
| Cancer-Associated Retinopathy |
|
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... |
ORPHA:71505 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... |
OMIM:618944 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Hematuria, Proteinuria |
OMIM:614034 |
| Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
| Immunodeficiency 32B |
|
Bronchiectasis, Pneumonia, Splenomegaly, Sinusitis, Recurrent respiratory infections |
OMIM:226990 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenome... |
OMIM:615846 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pruritus, Chronic myelomonocytic leukemia, Neutrophilia, Abnormal mast cell morphology, Eosinophi... |
ORPHA:98849 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... |
OMIM:615285 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Pyoderma Gangrenosum |
|
Myeloid leukemia, Inflammation of the large intestine, Myelodysplasia, Pustule, Increased circula... |
ORPHA:48104 |
| Laron Syndrome |
|
Delayed eruption of teeth, Hypercholesterolemia, Tooth agenesis, Truncal obesity, Hypoplasia of p... |
ORPHA:633 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... |
ORPHA:209902 |
| Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria |
OMIM:161900 |
| Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Diffuse reticular or ... |
OMIM:607616 |
| Werner Syndrome |
|
Renal neoplasm, Ovarian neoplasm, Neoplasm of the oral cavity, Cutaneous melanoma, Meningioma, Ga... |
ORPHA:902 |
| Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Myocarditis, Sinusitis, My... |
ORPHA:36234 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Majeed Syndrome |
|
Hypochromic microcytic anemia, Inflammatory abnormality of the skin, Pustule, Leukocytosis, Conge... |
ORPHA:77297 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... |
OMIM:617241 |
| Amyloidosis, Primary Localized Cutaneous, 2 |
|
Pruritus |
OMIM:613955 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... |
OMIM:143400 |
| Frasier Syndrome |
|
Increased circulating gonadotropin level, Ambiguous genitalia, male, Focal segmental glomeruloscl... |
ORPHA:347 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
