| 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 |
| Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma, Pruritus |
ORPHA:79152 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Squamous cell carcinoma, Recurrent cutaneou... |
OMIM:613736 |
| Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
| Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
| Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hodgkin lymphoma, Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, S... |
OMIM:619375 |
| Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
| Immunodeficiency 64 |
|
Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low B cells, Anti-... |
OMIM:618534 |
| 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 |
|
Squamous cell carcinoma, Basal cell carcinoma, Pruritus |
ORPHA:409 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Non-Hodgkin lymphoma, Rheum... |
ORPHA:3261 |
| Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
| Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... |
OMIM:619220 |
| Immunodeficiency 105 |
|
B-cell lymphoma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S... |
OMIM:619924 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Colitis, Decreased specific pneumococcal antibody level, Podocyte foot proces... |
OMIM:617006 |
| Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
| Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Tuberous Sclerosis 2 |
|
Optic nerve glioma, Subependymal nodules, Precocious puberty, Subungual fibromas, Cortical tubers... |
OMIM:613254 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Rheumatoid factor positive, Lymphadenopathy, Nephrotic syndrome, Smooth muscle anti... |
OMIM:603909 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased circulating IgG level, Defective T cell proliferation, Lymphoproliferative... |
OMIM:615897 |
| Tuberous Sclerosis 1 |
|
Optic nerve glioma, Subependymal nodules, Precocious puberty, Subungual fibromas, Cortical tubers... |
OMIM:191100 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Recurrent aphthous stomatitis, Increased circulating IgM level, Neutrop... |
ORPHA:2688 |
| Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... |
ORPHA:587 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... |
OMIM:601859 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferat... |
OMIM:614470 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absence of specific antibody r... |
OMIM:618986 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Eczema, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, De... |
OMIM:619802 |
| Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Systemic lupus erythematosus, Recurrent tonsillitis, Decreased serum compleme... |
OMIM:613779 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Squamous cell carcinoma, Basal cell carcinoma |
OMIM:618267 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, B-cell lymphoma, Hodgkin lymphoma, Splenom... |
OMIM:300853 |
| Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Recurrent skin infections, Lymphoma, Autoimmunity, Renal insufficienc... |
ORPHA:454 |
| Thymoma |
|
Rheumatoid arthritis, Non-Hodgkin lymphoma, Aplastic anemia, Abnormal lymphocyte proliferation, L... |
ORPHA:99867 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... |
OMIM:613496 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
| Meige Disease |
|
Recurrent bacterial skin infections, Facial edema, Recurrent skin infections, Absence of lymph no... |
ORPHA:90186 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... |
OMIM:247800 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
| Autoimmune Hepatitis |
|
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc... |
ORPHA:2137 |
| Immunodeficiency, Common Variable, 2 |
|
Neoplasm, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenom... |
OMIM:240500 |
| Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Squamous cell carcinoma, Seborrheic dermatitis, Verrucae |
ORPHA:302 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Abnormality of the peritoneum |
ORPHA:2023 |
| Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Micropenis, Tetralogy of Fallot, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Peri... |
OMIM:615542 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... |
ORPHA:329918 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Systemic lupus erythematosus, Eczema, Monocytosis, Leukopenia, Bone marrow hypocellularity, Refra... |
OMIM:616871 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Sarcoma |
ORPHA:66661 |
| Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Autoimmunity, Patchy alopecia |
OMIM:104000 |
| Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... |
OMIM:158320 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Lymphoproliferative disorder, Pneumonia, Jaundice, Decreased proportion of naive T ... |
ORPHA:276 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Antinuclear antibody ... |
OMIM:618048 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... |
OMIM:618495 |
| Simple Cryoglobulinemia |
|
Multiple myeloma, Complement deficiency, Monoclonal elevation of circulating IgA, Rheumatoid fact... |
ORPHA:91139 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
| Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Complement deficiency, Decre... |
ORPHA:449395 |
| Cowden Syndrome |
|
Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gland, Papilloma, Lipoma, Neopla... |
ORPHA:201 |
| Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
| X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Myocarditis, Incr... |
ORPHA:2442 |
| Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... |
OMIM:209950 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
| Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... |
ORPHA:443811 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Squamous c... |
ORPHA:217390 |
| Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
| Chilblain Lupus |
|
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... |
ORPHA:90280 |
| Schopf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma |
OMIM:224750 |
| Sebocystomatosis |
|
Adenoma sebaceum, Steatocystoma multiplex, Nephrolithiasis |
ORPHA:841 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Decreased serum complement C3, Complement deficiency, Decreased se... |
ORPHA:567544 |
| Immunoerythromyeloid Hypoplasia |
|
Lymphoproliferative disorder, Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
| Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Proteinuria, Acute ... |
OMIM:615008 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
| Immunodeficiency 36 |
|
B-cell lymphoma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, E... |
OMIM:616005 |
| Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Lymphoproliferative disorder, Impaired T cell function, Non-Hodgkin lymphoma, Abnor... |
ORPHA:1830 |
| Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatic steatosis |
OMIM:615595 |
| Mantle Cell Lymphoma |
|
B-cell lymphoma, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Milroy Disease |
|
Hydrocele testis, Angiosarcoma, Erysipelas, Neoplasm of the skin |
ORPHA:79452 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Thrombocytop... |
OMIM:304790 |
| Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
| Familial Keratoacanthoma |
|
Adenoma sebaceum, Papilloma, Neoplasm |
ORPHA:493 |
| Temple Syndrome |
|
High palate, Cleft palate, Small for gestational age, Flexion contracture, Bifid uvula, Truncal o... |
OMIM:616222 |
| Leukonychia Totalis |
|
Adenoma sebaceum, Blepharitis, Nephrolithiasis |
ORPHA:2387 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased circulating total IgM, Eczema... |
OMIM:243700 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Hematuria, Thrombo... |
ORPHA:69077 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis |
ORPHA:209919 |
| C1Q Deficiency |
|
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Decreased s... |
OMIM:613652 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Hypothyroidism, Fibroma, Microcytic anemia, Decreased circulating antibody le... |
OMIM:619750 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Skin rash, Splenomegaly, Complement deficiency, Hematuria, Lymphoma, Arthritis, Epi... |
ORPHA:36412 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169154 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
| Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Ker... |
OMIM:617388 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... |
OMIM:619858 |
| Ollier Disease |
|
Chondrosarcoma, Neoplasm, Precocious puberty, Lymphangioma, Anemia, Hemangioma, Multiple enchondr... |
ORPHA:296 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, B lymphocy... |
ORPHA:277 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... |
OMIM:613179 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, Abnormal renal physiology, T-cell lymphoma, Pancytopenia, Bur... |
ORPHA:158057 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
| Lymphoproliferative Syndrome 1 |
|
B-cell lymphoma, Hodgkin lymphoma, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, L... |
OMIM:613011 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Eczema, Anti-thyroid peroxidase antibody positivity, Anti-liver cytosolic antigen type... |
ORPHA:37042 |
| Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Maculopapular exanthema, Hepato... |
OMIM:619644 |
| Immunodeficiency 23 |
|
Hodgkin lymphoma, Lymphopenia, Eosinophilia, Abscess, Membranoproliferative glomerulonephritis, I... |
OMIM:615816 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Pruritus, Lymphadenopath... |
ORPHA:86893 |
| Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Lymphoma, Arthritis, Increased circulating I... |
ORPHA:37748 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma |
OMIM:618373 |
| Systemic Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Arthri... |
OMIM:152700 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Decreased serum complement C3, Microscopic hematuria, Autoimmunity, Proteinuria, G... |
ORPHA:79087 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
| Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis |
OMIM:601466 |
| Xeroderma Pigmentosum Variant |
|
Squamous cell carcinoma, Melanoma, Basal cell carcinoma |
ORPHA:90342 |
| Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:616829 |
| Osteoarthritis Susceptibility 3 |
|
Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... |
OMIM:607850 |
| Necrobiosis Lipoidica |
|
Squamous cell carcinoma, Inflammatory abnormality of the skin |
ORPHA:542592 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Pruritus |
OMIM:607685 |
| Schöpf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
| Omenn Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Lymphoma, Abnormal ly... |
ORPHA:39041 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... |
ORPHA:444463 |
| Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Pruritus, Lymphadenopathy, Hyperhidrosis |
ORPHA:98293 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Smooth muscle antibody positivity, Hepatosplenomegaly, Antineutrophil antibody posi... |
ORPHA:99931 |
| Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Decreased serum complement C4, Hematuria, Proteinuria, Microangiopathic hemol... |
ORPHA:93552 |
| Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
| Lymphoproliferative Syndrome 3 |
|
Hodgkin lymphoma, Lymphoproliferative disorder, Hepatosplenomegaly, Decreased circulating antibod... |
OMIM:618261 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Immunodeficiency 25 |
|
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Increased circu... |
OMIM:610163 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Polyclonal elevation of IgM, Lymphoma, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:153600 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphoproliferative disorder, Lymphadenitis, Pneumonia, Absence of CD8-positive T cells, Nephroti... |
ORPHA:911 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Decre... |
OMIM:308240 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Decreased serum complement C3, C3 nephritic factor po... |
ORPHA:54370 |
| Immunodeficiency 76 |
|
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr... |
OMIM:619164 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... |
ORPHA:83469 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema... |
OMIM:608709 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... |
OMIM:617156 |
| Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Polysple... |
ORPHA:457083 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Antiphospholipid antibody positivity, Lymphopenia, Increased circulating IgA level, Pustule, Skin... |
OMIM:615934 |
| Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
| Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... |
ORPHA:100024 |
| Complement Component 4A Deficiency |
|
Reduced hemolytic complement activity, Decreased serum complement C4, Systemic lupus erythematosu... |
OMIM:614380 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal morphology of female internal genitalia, Adenoma sebaceum, Neoplasm of the skin |
ORPHA:3353 |
| Hemochromatosis Type 4 |
|
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis |
ORPHA:139491 |
| Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
| Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo... |
OMIM:619126 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
| Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of the skin, Seborrheic ... |
OMIM:278760 |
| Classic Mycosis Fungoides |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Skin rash, Splenomegaly, Eczema, Lymphoma, Pruritus, Abn... |
ORPHA:2584 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Squamous cell carcinoma |
OMIM:602540 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal platelet function, Abno... |
ORPHA:2585 |
| Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... |
ORPHA:523 |
| Porokeratosis |
|
Squamous cell carcinoma of the skin, Pruritus |
ORPHA:79358 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Refractory anemia with ringed sideroblasts,... |
OMIM:133180 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria |
OMIM:314000 |
| Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Autoimmunity, Bone marrow hypocell... |
ORPHA:98827 |
| Congenital Atransferrinemia |
|
Anemia, Arthritis |
ORPHA:1195 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic steatosis, Hepatomegaly, Hepatic failure |
OMIM:617872 |
| Cowden Syndrome 1 |
|
Hydrocele testis, Thyroiditis, Lymphopenia, Breast carcinoma, Fibroadenoma of the breast, Ovarian... |
OMIM:158350 |
| Linear Nevus Sebaceus Syndrome |
|
Adenoma sebaceum, Cavernous hemangioma |
ORPHA:2612 |
| Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Ol... |
OMIM:615703 |
| Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Abnormality of the kidney, Autoim... |
ORPHA:275555 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Anem... |
OMIM:613313 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Dysgammaglobulinemia, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hodgkin lymphoma, Hepatomegaly, Hemoph... |
OMIM:615122 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Atopic der... |
OMIM:618999 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphoproliferative disorder, B lymphocytopenia, Decreased specific antibody response to vaccinat... |
OMIM:614700 |
| Selective Igm Deficiency |
|
Keratitis, Multiple myeloma, Stomach cancer, Otitis media, Rheumatoid arthritis, Lymphadenitis, N... |
ORPHA:331235 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydrocele testis, Rheumatoid arthritis, Rheumatoid factor positive, Hematuria, Anti-thyroid perox... |
ORPHA:49041 |
| Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... |
OMIM:235200 |
| Boutonneuse Fever |
|
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I... |
ORPHA:83313 |
| Primary Sjögren Syndrome |
|
Chronic active hepatitis, Vaginal dryness, Lymphoproliferative disorder, Complement deficiency, D... |
ORPHA:289390 |
| Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P... |
OMIM:105200 |
| Lymphoma, Hodgkin, Classic |
|
Hodgkin lymphoma, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevatio... |
OMIM:236000 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Proteinuria, Pruritus, Jaundice |
OMIM:620010 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema... |
OMIM:613913 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node germinal center, Myelodysplasia... |
OMIM:608184 |
| Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Otitis media, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... |
OMIM:608971 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
| Atypical Hemolytic Uremic Syndrome |
|
Decreased serum complement factor B, Decreased serum complement factor I, Complement deficiency, ... |
ORPHA:2134 |
| Retinitis Pigmentosa 59 |
|
Cryptorchidism, Hepatomegaly, Renal insufficiency, Micropenis |
OMIM:613861 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Increased circulating I... |
OMIM:619773 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
| Adrenomyodystrophy |
|
Pituitary corticotropic cell adenoma, Hepatic steatosis |
OMIM:300270 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
| Brucellosis |
|
Hepatomegaly, Rheumatoid factor positive, Myocarditis, Epididymitis, Hypersplenism, Pneumonia, Kn... |
ORPHA:1304 |
| Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Di... |
OMIM:602390 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, B lymphocytopenia, Arthritis, T lymphocytopenia, Panhypogammaglo... |
OMIM:601457 |
| Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa... |
ORPHA:79140 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... |
OMIM:615861 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Skin rash, Splenomegaly, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia,... |
ORPHA:100026 |
| Sézary Syndrome |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal immunoglobulin level, P... |
ORPHA:3162 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Hypoplasia of penis, Truncal obesity, Hypogonadism, Hypercholesterolemia |
ORPHA:181393 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Systemic lupus erythematosus, Splenomegaly, Lymphoproliferative disorder,... |
ORPHA:90033 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Abnormality of the kidney, Neoplasm of the lung, Gingival fibromatosis,... |
ORPHA:2591 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
| Felty Syndrome |
|
Sinusitis, Hepatomegaly, Rhinitis, Splenomegaly, Recurrent urinary tract infections, Chronic otit... |
ORPHA:47612 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
| Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Circulating immune complexes, Reversible renal failure, Non-caseating epithelioid cel... |
OMIM:607665 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism |
OMIM:618165 |
| Classic Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Pruritus, Bone marrow hypocellularity,... |
ORPHA:391 |
| Multicentric Reticulohistiocytosis |
|
Histiocytosis, Arthritis |
ORPHA:139436 |
| C3 Glomerulopathy 3 |
|
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Abnormal urinary color, Splenomegaly, Lymphoma, Hemolytic anemia, ... |
ORPHA:98375 |
| Yellow Nail Syndrome |
|
Neoplasm, Sinusitis, Renal neoplasm, Neoplasm of the lung, Nephropathy, Biliary tract neoplasm, B... |
ORPHA:662 |
| Igg4-Related Submandibular Gland Disease |
|
Facial edema, Complement deficiency, Enlarged lacrimal glands, Enlargement of parotid gland, Peri... |
ORPHA:449432 |
| Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Renal hypoplasia/aplasia, Hepatomegaly, Hemangiomatosis, Patent ductu... |
ORPHA:2123 |
| Insulin-Resistance Syndrome Type B |
|
Multiple myeloma, Glycosuria, Proteinuria, Pneumonia, Polycystic ovaries, Enlarged polycystic ova... |
ORPHA:2298 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... |
OMIM:102700 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Pancreatitis, Hemophagocytosis, Decreased glomerular filtration rate, Complement de... |
ORPHA:470 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... |
ORPHA:275 |
| Systemic Sclerosis |
|
Anti-centromere antibody positivity, Chronic kidney disease, Anti-topoisomerase I antibody positi... |
ORPHA:90291 |
| Granulomatous Slack Skin |
|
Hodgkin lymphoma, Abnormality of the lymph nodes, Lymphoma, Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
| Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... |
OMIM:619632 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
| Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... |
OMIM:618969 |
| Cystic Echinococcosis |
|
Increased circulating antibody level, Abnormality of the testis size, Cholestatic liver disease, ... |
ORPHA:400 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... |
OMIM:300755 |
| Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
| Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis |
OMIM:617609 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
| Mycosis Fungoides |
|
Eczema, Neoplasm of the skin, Lymphoma, Pruritus, Psoriasiform dermatitis |
OMIM:254400 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:610717 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Keratitis, Diffuse leiomyomatosis, Esophageal neoplasm, Chronic kidney disease, Uterine neoplasm,... |
ORPHA:1018 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermatophytosis, Abno... |
OMIM:212050 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
| Papillon-Lefèvre Syndrome |
|
Chronic furunculosis, Pustule, Recurrent skin infections, Melanoma, Squamous cell carcinoma, Neop... |
ORPHA:678 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Chondrocalcinosis 2 |
|
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis |
OMIM:118600 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Chronic oral cand... |
OMIM:300400 |
| Desmoid Tumor |
|
Desmoid tumors, Abnormality of the upper urinary tract, Fibroma, Intestinal polyposis, Hydronephr... |
ORPHA:873 |
| Hyper-Igd Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... |
OMIM:260920 |
| Progressive Osseous Heteroplasia |
|
Osteoarthritis, Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
| Lymphatic Filariasis |
|
Hydrocele testis, Nephrotic syndrome, Orchitis, Circulating immune complexes, Abnormality of the ... |
ORPHA:2035 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Hypogonadism |
OMIM:608540 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... |
OMIM:610755 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia, Limitation of joint mobility, Arthritis |
ORPHA:2582 |
| Immunodeficiency 16 |
|
Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... |
OMIM:601894 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Testicular seminoma, Hypohidrosis, Renal insufficiency, Hypogonadism, ... |
ORPHA:281090 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria |
OMIM:189800 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... |
OMIM:618987 |
| African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Hepatosplenomegaly, Sterile abscess, Arthritis, Pancytopenia, Thrombocytosi... |
OMIM:604416 |
| Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma, Recurrent skin infections, Recurrent urinary tract infections, Renal duplication, T... |
ORPHA:33001 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hepatomegaly, Macroglossia, Proportionate tall ... |
ORPHA:528 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circulatin... |
OMIM:616100 |
| Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
| Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
| Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Fibrosarcoma, Abnormal endometrium morphology, Peritonitis, Gonadal calci... |
ORPHA:314478 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentrati... |
OMIM:603471 |
| Mastocytosis |
|
Hepatomegaly, Splenomegaly, Mastocytosis, Sarcoma, Chronic leukemia, Pruritus, Acute leukemia |
ORPHA:98292 |
| Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence o... |
OMIM:269840 |
| Aicardi Syndrome |
|
Precocious puberty, Lipoma, Hepatoblastoma, Teratoma, Hemangioma, Metastatic angiosarcoma, Recurr... |
OMIM:304050 |
| Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5... |
OMIM:618913 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... |
OMIM:616000 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Abnormal morphology of female internal genitalia, Abnormality of... |
OMIM:193670 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... |
ORPHA:231401 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Systemic lupus erythematosus, Decreased response to growth hormone stimul... |
ORPHA:1855 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Arthritis, Autoimmunity, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia |
ORPHA:375 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Antinuclear antibody positivity, Mesangial hypercellularity, Crescentic glomerulonephritis, Arthr... |
OMIM:616414 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... |
OMIM:301006 |
| Werner Syndrome |
|
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... |
ORPHA:902 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
| Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Arteritis, Macro... |
ORPHA:93126 |
| Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Breast carcinoma, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal co... |
ORPHA:97290 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosple... |
OMIM:618935 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Obesity, Cry... |
ORPHA:3055 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thro... |
ORPHA:3226 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
| Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
| Gracile Syndrome |
|
Cirrhosis, Elevated hepatic iron concentration, Hepatic steatosis, Cholestasis |
ORPHA:53693 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Precocious puberty, Cleft palate, Small for gestational age, Bifid uvula, Truncal ob... |
ORPHA:96184 |
| Bazex Syndrome |
|
Lung adenocarcinoma, Neoplasm, Liposarcoma, Pruritus, Anemia |
ORPHA:166113 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Facial edema, Splenomegaly, Urinary excretion of sialylated... |
OMIM:256550 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Squamous cell carcinoma of the skin, Verruca plana |
OMIM:618231 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Supernumerary nipple, Chronic tubulointerstitial nephritis, Renal hypoplasia, Prote... |
OMIM:614376 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Rheumatoid factor positive, Microcytic anemia,... |
OMIM:618852 |
| Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Cryoglobulinemia, Normocytic anemia, Lymphoma, Abnormality of neutrop... |
ORPHA:33226 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
| Igg4-Related Aortitis |
|
Increased circulating antibody level, Complement deficiency, Antinuclear antibody positivity, Inc... |
ORPHA:449400 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Lymphopenia, Recurrent skin infections, Osteopenia, Antineutrophil antibody positi... |
ORPHA:486 |
| Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
| Xeroderma Pigmentosum, Variant Type |
|
Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma |
OMIM:278750 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Hepatomegaly, Decreased circulating IgG level, Hemophagocytosis, Splenome... |
OMIM:301078 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hodgkin lymphoma, Neutropenia in presence of anti-neutropil antibodies, Exocrine pancreatic insuf... |
OMIM:615952 |
| Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomerular visceral epi... |
ORPHA:567548 |
| Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... |
OMIM:617780 |
| Igg4-Related Ophthalmic Disease |
|
Keratitis, Pancreatitis, Non-Hodgkin lymphoma, Enlarged lacrimal glands, Periorbital edema, Prost... |
ORPHA:449563 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Chronic kidney disease, Cholestatic liver disease, Nephro... |
OMIM:602114 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Cholestasis, Elevated hepatic transaminase, Portal fibrosis, Hepatic st... |
OMIM:614300 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, External genital hypoplasia, Renal agenesis, Abnormality of the kidney, R... |
OMIM:615993 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Abnormality of the kidney, Hepatocel... |
ORPHA:369 |
| Epidermodysplasia Verruciformis, X-Linked |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:305350 |
| Chromomycosis |
|
Squamous cell carcinoma, Multiple cutaneous malignancies, Pruritus |
ORPHA:182 |
| Babesiosis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Renal insufficiency, Thrombocytopenia, ... |
ORPHA:108 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Micropenis, Hypogonadism, Obesity, Cryptorchidism |
ORPHA:85274 |
| Progressive Familial Intrahepatic Cholestasis |
|
Neoplasm, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... |
ORPHA:656 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirub... |
OMIM:619868 |
| Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Gastrointestinal stroma tumor, Otitis media, Autoimmune thrombocytopen... |
ORPHA:1572 |
| Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency, Hypogonadism |
OMIM:615987 |
| Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
| Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Circulating immune complexes, Splenomegaly, Cryoglobulinemia, Medi... |
ORPHA:91138 |
| Heme Oxygenase 1 Deficiency |
|
Increased circulating interleukin 6 concentration, Hepatomegaly, Coombs-positive hemolytic anemia... |
OMIM:614034 |
| Frasier Syndrome |
|
Ovarian gonadoblastoma, Nephrotic syndrome, Male pseudohermaphroditism, Gonadal dysgenesis, Focal... |
OMIM:136680 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
| Postinfectious Vasculitis |
|
Bacterial endocarditis, Increased circulating antibody level, Inflammatory abnormality of the ski... |
ORPHA:48435 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
| Immunodeficiency 54 |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphoprol... |
OMIM:609981 |
| Gray Platelet Syndrome |
|
Myelodysplasia, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Leukocytosis, Decreased serum complement C3, Decreased seru... |
ORPHA:90060 |
| Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619048 |
| Legius Syndrome |
|
Nephrolithiasis, Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmo... |
ORPHA:137605 |
| Leukocyte Adhesion Deficiency |
|
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... |
ORPHA:2968 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Carcinoma |
OMIM:615225 |
| Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Lymphadenopathy |
ORPHA:545 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... |
ORPHA:319487 |
| Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
| Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
| Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... |
ORPHA:71505 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Hemangioma, Abnormality of the kidney, Increased circulating ... |
ORPHA:284227 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Neoplasm, Hepatomegaly, Splenomegaly, Chronic otitis media, Thrombocytopenia, Hemolytic anemia, A... |
ORPHA:169090 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Ab... |
ORPHA:85450 |
| X-Linked Agammaglobulinemia |
|
Neoplasm, Osteomyelitis, Sinusitis, Skin rash, Abnormality of the lymphatic system, Chronic otiti... |
ORPHA:47 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly |
OMIM:606069 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease |
OMIM:161900 |
| Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... |
ORPHA:48104 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, ... |
OMIM:615863 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
| Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Anticardiolipin IgG a... |
ORPHA:64743 |
| Proteus Syndrome |
|
Lymphangioma, Lipoma, Splenomegaly, Hemangioma, Multiple lipomas |
OMIM:176920 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Multiple myeloma, Systemic lupus erythematosus, Pustule, Hy... |
ORPHA:48377 |
| Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
