| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
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 |
|
Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Antinuclear a... |
OMIM:615559 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Chronic furunculosis, Acne inversa, Squamous cell carcinoma, Recurrent cutaneou... |
OMIM:613736 |
| Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... |
OMIM:619375 |
| Li-Fraumeni Syndrome 2 |
|
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma |
OMIM:609265 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Cervical lympha... |
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, Pruritus, Basal cell carcinoma |
ORPHA:409 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma, Colorectal polyposis |
OMIM:615083 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... |
OMIM:606719 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Eczema, Monocytopenia, Neutropenia |
OMIM:300299 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
| Autoimmune Lymphoproliferative Syndrome |
|
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Hepatocellular carcinoma,... |
ORPHA:3261 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Facial papilloma, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increased... |
OMIM:619220 |
| Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
| Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased c... |
ORPHA:2688 |
| X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... |
OMIM:617006 |
| Tuberous Sclerosis 2 |
|
Hypothyroidism, Astrocytoma, Chordoma, Precocious puberty, Renal angiomyolipoma, Cardiac rhabdomy... |
OMIM:613254 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Squamous cell carcinoma, Basal cell carcinoma, Verrucae |
OMIM:618267 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal... |
OMIM:603909 |
| Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
| Tuberous Sclerosis 1 |
|
Hypothyroidism, Astrocytoma, Chordoma, Precocious puberty, Renal angiomyolipoma, Cardiac rhabdomy... |
OMIM:191100 |
| Immunodeficiency 21 |
|
Anemia, Myeloid leukemia, Osteomyelitis, Monocytopenia, B lymphocytopenia, Reduced natural killer... |
OMIM:614172 |
| Muir-Torre Syndrome |
|
Breast carcinoma, Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Malignant gen... |
ORPHA:587 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphoc... |
OMIM:614470 |
| Autoimmune Lymphoproliferative Syndrome |
|
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal... |
OMIM:601859 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Bronchiectasis, Monocytopenia, Impaired neutrophil ... |
OMIM:618986 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, E... |
OMIM:226990 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Decreased circulating complement C3 concentration, Nephrotic syndrome, Membranoproliferative glom... |
OMIM:613779 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Decreased circulating complement C3 concentration, Nephrotic syndrome, Acute kidney injury, Skin ... |
ORPHA:567544 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... |
ORPHA:443167 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoma, Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusit... |
OMIM:300853 |
| Acquired Ichthyosis |
|
Lymphoma, Pruritus, Sarcoma, Multiple myeloma, Autoimmunity, Neoplasm, Recurrent skin infections,... |
ORPHA:454 |
| Thymoma |
|
Neoplasm of the gastrointestinal tract, Abnormal lymphocyte proliferation, Myositis, Glomerulonep... |
ORPHA:99867 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Chronic decreased circulating total IgG, Decreased specific pneumoco... |
OMIM:613496 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... |
OMIM:619281 |
| Meige Disease |
|
Recurrent bacterial skin infections, Lymph node hypoplasia, Periorbital edema, Recurrent skin inf... |
ORPHA:90186 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemi... |
OMIM:247800 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphoma, Conjunctivitis, Bronchiectasis, Autoimmunity, Recurrent sinusitis, Recurrent otitis med... |
OMIM:240500 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
| Autoimmune Hepatitis |
|
Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing cholangitis, Diffuse hepatic ... |
ORPHA:2137 |
| Congenital Macroglossia |
|
Neurofibromas, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Epidermodysplasia Verruciformis |
|
Squamous cell carcinoma, Pustule, Recurrent skin infections, Seborrheic dermatitis, Verrucae |
ORPHA:302 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Abnormality of the peritoneum |
ORPHA:2023 |
| C3 Glomerulopathy |
|
Decreased circulating complement C3 concentration, Glomerular extracapillary hypercellularity, Ne... |
ORPHA:329918 |
| Muir-Torre Syndrome |
|
Breast carcinoma, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genitourinary tract tumor,... |
OMIM:158320 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Mast Cell Sarcoma |
|
Sarcoma, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Eczema, Systemic lupus erythematosus, Bone marrow hypocellula... |
OMIM:616871 |
| Systemic Lupus Erythematosus 16 |
|
Decreased circulating complement C3 concentration, Perinuclear antineutrophil antibody positivity... |
OMIM:614420 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmunity, Recurrent otitis media... |
OMIM:618495 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Pneumonia, Dec... |
ORPHA:276 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Antinuclear antibody positivity, Increased CD4:CD8 ratio, Anti-thyroid peroxidase antibody positi... |
OMIM:618048 |
| Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, B-cell lymphoma, Microscopic hematuria, Chronic lymphatic leukemia... |
ORPHA:91139 |
| Cowden Syndrome |
|
Fibroma, Neoplasm of the central nervous system, Melanoma, Neoplasm of the skin, Neoplasm of the ... |
ORPHA:201 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
| Alopecia Areata 1 |
|
Autoimmunity, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:104000 |
| Immunodeficiency 27A |
|
Anemia, Increased circulating IgG level, Hepatosplenomegaly, Rheumatoid factor positive, Lymphade... |
OMIM:209950 |
| Multiple Endocrine Neoplasia, Type I |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceum, Increased c... |
OMIM:131100 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... |
ORPHA:454840 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... |
ORPHA:443811 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic oral candidiasis, Decreased circulating antibody level... |
OMIM:615592 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Squamous cell carcinoma of the vulva, Squamous cell carcinom... |
ORPHA:217390 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
| Chilblain Lupus |
|
Pruritis on hand, Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the sk... |
ORPHA:90280 |
| Schopf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Poroma, Apocrine hidrocystoma, Basal cell carcinoma |
OMIM:224750 |
| Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
| Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
| Sebocystomatosis |
|
Steatocystoma multiplex, Nephrolithiasis, Adenoma sebaceum |
ORPHA:841 |
| Li-Fraumeni Syndrome |
|
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... |
OMIM:151623 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... |
OMIM:615008 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Impaired T cell function, Bone marrow hypocellularity, Thrombocytope... |
ORPHA:1830 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... |
OMIM:616005 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti... |
ORPHA:449395 |
| Immunoerythromyeloid Hypoplasia |
|
Lymphoproliferative disorder, Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin, Erysipelas |
ORPHA:79452 |
| Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, B-cell lymphoma |
ORPHA:52416 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Anemia, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Coombs-p... |
OMIM:304790 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly, Myelodysplasia |
OMIM:162830 |
| Familial Keratoacanthoma |
|
Papilloma, Neoplasm, Adenoma sebaceum |
ORPHA:493 |
| Leukonychia Totalis |
|
Nephrolithiasis, Adenoma sebaceum, Blepharitis |
ORPHA:2387 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... |
OMIM:243700 |
| Rhabdoid Tumor |
|
Anemia, Neoplasm of the central nervous system, Sarcoma, Neoplasm of the liver, Hematuria, Renal ... |
ORPHA:69077 |
| C1Q Deficiency 1 |
|
Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom... |
OMIM:613652 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Hypothyroidism, Decreased circulating antibody level, Hepatosplenomegaly, Recurrent pneu... |
OMIM:619750 |
| Hypocomplementemic Urticarial Vasculitis |
|
Lymphoma, Glomerulopathy, Splenomegaly, Conjunctivitis, Pruritus, Episcleritis, Skin rash, Inflam... |
ORPHA:36412 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Incre... |
ORPHA:169154 |
| Immunodeficiency 102 |
|
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-po... |
OMIM:301082 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Antinuclear antibody positivity, Thyroiditis, Keratoconjunctivitis sicca, Lary... |
OMIM:617388 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Granuloma, Chilblains, Membranoproliferative glomerulonephritis, Pancytopenia, ... |
OMIM:619858 |
| Ollier Disease |
|
Anemia, Precocious puberty, Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomat... |
ORPHA:296 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, B-cell lymphoma, Autoimmunity, Pancytop... |
OMIM:613011 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Immunodeficiency 23 |
|
Molluscum contagiosum, Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Membranoproliferative... |
OMIM:615816 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Myelodysplasia, Hepatocellular carcinoma, Acute lymphoblastic leukemia, H... |
ORPHA:158057 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Neutrophilia, Membranoproliferative glomerulonephr... |
OMIM:619644 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphoma, Decreased lymphocyte proliferation in response to mitogen, Recurrent urinary tract infe... |
OMIM:613179 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody po... |
ORPHA:37042 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, Breast carcinoma, Hyperhidrosis, Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly,... |
ORPHA:86893 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Schnitzler Syndrome |
|
Lymphoma, Anemia, Arthritis, Skin rash, Lymphadenopathy, Leukocytosis, Increased circulating IgM ... |
ORPHA:37748 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Decreased circulating complement C3 concentration, Nephrotic syndrome, Progressive loss of facial... |
OMIM:608709 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Malar rash, Antiphospholipid antibody positivity, Hemolytic anemia, Arthritis, Nephri... |
OMIM:152700 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Anti-thyroid peroxidase antibody p... |
ORPHA:277 |
| C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated hepatic transaminase |
OMIM:618400 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly |
OMIM:607685 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Decreased circulating complement C3 concentration, Lymphocytosis, Autoimmunity, H... |
ORPHA:79087 |
| Xeroderma Pigmentosum Variant |
|
Melanoma, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:90342 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function |
OMIM:616829 |
| Osteoarthritis Susceptibility 3 |
|
Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j... |
OMIM:607850 |
| Necrobiosis Lipoidica |
|
Squamous cell carcinoma, Inflammatory abnormality of the skin |
ORPHA:542592 |
| Idiopathic Pulmonary Hemosiderosis |
|
Autoimmune antibody positivity, Hepatosplenomegaly, Rheumatoid factor positive, Glomerulonephriti... |
ORPHA:99931 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... |
OMIM:618261 |
| Schöpf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
| Omenn Syndrome |
|
Lymphoma, Hypothyroidism, Anemia, Erythroderma, Nephrotic syndrome, Thyroiditis, Autoimmunity, Ly... |
ORPHA:39041 |
| Hodgkin Lymphoma |
|
Lymphoma, Hyperhidrosis, Lymphadenopathy, Neoplasm, Hepatomegaly, Pruritus, Splenomegaly |
ORPHA:98293 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Recurrent ot... |
ORPHA:444463 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Hepatosplenomegaly, Eosinophilia, Colitis, Pneumonia, Lymphadenit... |
ORPHA:911 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Lymphoma, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... |
OMIM:153600 |
| Primary Membranoproliferative Glomerulonephritis |
|
Decreased circulating complement C3 concentration, Renal insufficiency, Nephrotic syndrome, Acute... |
ORPHA:54370 |
| Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphoma, Burkitt lymphoma, Infectious encephalitis, Reduced natural killer cell activity, Decrea... |
OMIM:308240 |
| Pediatric Systemic Lupus Erythematosus |
|
Lupus anticoagulant, Myositis, Abnormality of the urinary system, Thrombocytopenia, Antinuclear a... |
ORPHA:93552 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... |
OMIM:301045 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, High palate, Precocious puberty,... |
OMIM:616222 |
| Desmoplastic Small Round Cell Tumor |
|
Anemia, Neoplasm of the central nervous system, Neoplasm of the lung, Sarcoma, Neoplasm of the pa... |
ORPHA:83469 |
| Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... |
OMIM:619164 |
| Tumor Predisposition Syndrome 1 |
|
Renal cell carcinoma, Malignant mesothelioma, Lung adenocarcinoma, Meningioma, Uveal melanoma, Cu... |
OMIM:614327 |
| Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Malar rash, Cytoplasmic antineutrophil antibody positivity, Skin rash, Lympho... |
OMIM:615934 |
| Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Nephropathy, Lymphadenopathy... |
ORPHA:100024 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Lymphoma, Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased ... |
OMIM:619126 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal morphology of female internal genitalia, Adenoma sebaceum, Neoplasm of the skin |
ORPHA:3353 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Eczema, Co... |
OMIM:607271 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly, Rheumatoid arthritis |
OMIM:134750 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis, Reduced hemolytic complement activity, Decreased circulating complement C4 co... |
OMIM:614380 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... |
OMIM:278760 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis... |
OMIM:617514 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyoma, Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Esophageal neoplasm, Va... |
ORPHA:523 |
| Junctional Epidermolysis Bullosa Inversa |
|
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:79405 |
| Classic Mycosis Fungoides |
|
Lymphoma, Skin rash, Eczema, Neoplasm of the skin, Lymphadenopathy, Hepatomegaly, Cutaneous T-cel... |
ORPHA:2584 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Squamous cell carcinoma, Erythroderma |
OMIM:602540 |
| Cowden Syndrome 1 |
|
Breast carcinoma, Hypothyroidism, Hyperthyroidism, Decreased circulating antibody level, Thyroidi... |
OMIM:158350 |
| Congenital Atransferrinemia |
|
Arthritis, Anemia |
ORPHA:1195 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Refractory anemia with ringe... |
OMIM:133180 |
| Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Obesity, Oligospermia, Increased LDL cholesterol concentration, Decreased HDL choles... |
OMIM:615703 |
| Porokeratosis |
|
Pruritus, Squamous cell carcinoma of the skin |
ORPHA:79358 |
| Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Autoimmunity, Polycystic ovaries, Thrombocytopeni... |
ORPHA:275555 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Hematuria, Increased circulating IgA level |
OMIM:314000 |
| Linear Nevus Sebaceus Syndrome |
|
Cavernous hemangioma, Adenoma sebaceum |
ORPHA:2612 |
| Indolent Systemic Mastocytosis |
|
Skin rash, Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly,... |
ORPHA:98848 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
| Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia i... |
OMIM:607594 |
| Alpha-Heavy Chain Disease |
|
Lymphoma, Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Splenomegaly |
ORPHA:100025 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Myelodysplasia, Autoimmunity, Bone marrow hypocellularity, Leukocytosis, ... |
ORPHA:98827 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Acute kidney injury, Normocytic anemia, Deep dermal perivascular inflamm... |
ORPHA:49041 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism, Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic ... |
OMIM:618999 |
| Boutonneuse Fever |
|
Leukopenia, Skin rash, Lymphadenopathy, Thrombocytopenia, Increased circulating IgM level, Cervic... |
ORPHA:83313 |
| Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis |
ORPHA:139491 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Secondary amenorrhea, Hepatomegaly, Splenomega... |
OMIM:613313 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Colitis, Thromb... |
OMIM:614700 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in in... |
OMIM:232700 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin... |
ORPHA:79501 |
| Lymphoproliferative Syndrome 2 |
|
Lymphoma, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibo... |
OMIM:615122 |
| Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Maculopapular exanthema, Lymphadenopathy, Pruritus, Histiocytosis, Leukemia |
ORPHA:157991 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul... |
OMIM:615513 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:79406 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Pruritus, Jaundice, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:620010 |
| Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Sp... |
OMIM:105200 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Myelodysplasia, Autoimmune thrombocytopenia, Impaired Ig class swi... |
OMIM:608184 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Impotence, Hepatocellular carcinoma, Azoospermia, Testicular atrophy, Diabetes mellitu... |
OMIM:235200 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... |
OMIM:236000 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatic steatosis, Elevated hepatic transaminase, Increased muscle lipid content, Hepatomegaly |
OMIM:610717 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level, Recurrent viral ... |
OMIM:619773 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Decreased circulating complement C3 concentration, Nephrotic syndrome, Progressive loss of facial... |
OMIM:613913 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Lymphadenop... |
OMIM:608971 |
| Primary Sjögren Syndrome |
|
Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Cryoglobulinemia, Myosit... |
ORPHA:289390 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Carcinoma, Unilateral vestibular schwannoma |
OMIM:603641 |
| Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor B concentration, Acute kidney injury, Abnormality of comp... |
ORPHA:2134 |
| Cutaneous Neuroendocrine Carcinoma |
|
Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo... |
ORPHA:79140 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:79411 |
| Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... |
ORPHA:1304 |
| Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Anemia, Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombo... |
ORPHA:100026 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... |
OMIM:615861 |
| Infantile Myofibromatosis |
|
Fibroma, Benign neoplasm of the central nervous system, Abnormality of the kidney, Neoplasm of th... |
ORPHA:2591 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Infertility, Azoospermia, Dilated cardiomyopathy, Hepatomegaly, Hypogonadotropic hypog... |
OMIM:602390 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Growth Hormone Insensitivity Syndrome |
|
Hypogonadism, Hypoplasia of penis, Failure to thrive, Truncal obesity, Hypercholesterolemia |
ORPHA:181393 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function |
OMIM:617093 |
| Sézary Syndrome |
|
Lymphoma, Erythroderma, Neoplasm of the skin, Abnormal immunoglobulin level, Lymphadenopathy, Hep... |
ORPHA:3162 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
| Felty Syndrome |
|
Lymphoma, Anemia, Rhinitis, Recurrent urinary tract infections, Arthritis, Synovitis, Autoimmunit... |
ORPHA:47612 |
| Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Circu... |
OMIM:607665 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Squamous cell carcinoma, Cutaneous melanoma, Pruritus, Basal cell carcinoma |
ORPHA:79410 |
| Classic Hodgkin Lymphoma |
|
Lymphoma, Hyperhidrosis, Skin rash, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity, Hepat... |
ORPHA:391 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary... |
ORPHA:90033 |
| Chondrocalcinosis 2 |
|
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy |
OMIM:118600 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Cytopl... |
ORPHA:93126 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Yellow Nail Syndrome |
|
Rhinitis, Bronchiectasis, Sarcoma, Biliary tract neoplasm, Renal neoplasm, Nephropathy, Hypoplasi... |
ORPHA:662 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia |
OMIM:608320 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Prostatitis, Eosinophilia, Sialadenitis, Increased circulating ... |
ORPHA:449432 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... |
ORPHA:400 |
| Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Anemia, Renal hypoplasia/aplasia, Visceral angiomatosis, Thrombocytopen... |
ORPHA:2123 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Decreased circulating IgG level, Chronic oral candidiasis, Juvenil... |
ORPHA:275 |
| Autoimmune Hemolytic Anemia |
|
Lymphoma, Hemolytic anemia, Autoimmunity, Abnormal urinary color, Abnormal leukocyte morphology, ... |
ORPHA:98375 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Myelo... |
ORPHA:75564 |
| Maffucci Syndrome |
|
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... |
ORPHA:163634 |
| Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
| Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Argininuria, ... |
ORPHA:470 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphop... |
OMIM:602450 |
| Systemic Sclerosis |
|
Anti-centromere antibody positivity, Recurrent skin infections, Osteomyelitis, Hypohidrosis, Prur... |
ORPHA:90291 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology, Lymphoma, Acute kidney injury, Nephrocalcinosis, Hodgkin lymphoma |
ORPHA:33111 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Fibroma, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Stage 5 c... |
ORPHA:1018 |
| Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Recurre... |
OMIM:618969 |
| Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Biliary cirrhosis, Thrombocytopenia, Pne... |
ORPHA:2298 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... |
OMIM:300400 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia... |
OMIM:601457 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Mycosis Fungoides |
|
Lymphoma, Pruritus, Eczema, Neoplasm of the skin, Psoriasiform dermatitis |
OMIM:254400 |
| Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Eosinophilia, Hepatomegaly, Pneumonia, Splenomegaly, B-cell ly... |
OMIM:102700 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... |
OMIM:212050 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Elevated urine mevalonic acid level, Chronic oral candidiasis, Renal angiomyolipom... |
OMIM:260920 |
| Desmoid Tumor |
|
Fibroma, Abnormality of the upper urinary tract, Neoplasm of the skin, Intestinal polyposis, Desm... |
ORPHA:873 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy... |
OMIM:612526 |
| Lymphatic Filariasis |
|
Lymphadenitis, Hypereosinophilia, Lymphangiectasis, Vaginal hydrocele, Abnormality of the scrotum... |
ORPHA:2035 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Limitation of joint mobility, Eosinophilia |
ORPHA:2582 |
| Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... |
ORPHA:524 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
| Pilomatrixoma |
|
Pilomatrixoma, Anti-myeloperoxidase antibody positivity, Pruritus, Neoplasm of head and neck |
ORPHA:91414 |
| Progressive Osseous Heteroplasia |
|
Sarcoma, Abnormality of the parathyroid gland, Osteoarthritis |
ORPHA:2762 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hypohidrosis, Hypogonadism, Testicular seminoma, Unilateral renal agenesis, Cryptorchidism, Renal... |
ORPHA:281090 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
| African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... |
ORPHA:139507 |
| Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Jaundice |
ORPHA:3111 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia, Kaposi's sarcoma |
OMIM:615593 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hypothyroidism, Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumor, Pituitary ... |
OMIM:610755 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Generalized aminoaciduria, Hepatomegaly |
ORPHA:882 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Knee flexion contracture, Sterile abscess, Arthritis, Elbow flexion contracture, Pancytopenia, He... |
OMIM:604416 |
| Papillon-Lefèvre Syndrome |
|
Chronic furunculosis, Squamous cell carcinoma, Melanoma, Neoplasm of the skin, Recurrent cutaneou... |
ORPHA:678 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Increased C-peptide level, Overgrowth of external genitalia, Adipo... |
ORPHA:528 |
| Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... |
OMIM:619374 |
| Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Gonadal calcification, Peritonitis, Abnormality of the ovar... |
ORPHA:314478 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
| Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Patent ductus arteriosus, Fibros... |
ORPHA:33001 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Mastocytosis |
|
Sarcoma, Mastocytosis, Hepatomegaly, Pruritus, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
| Whim Syndrome 1 |
|
Abnormality of female external genitalia, Decreased circulating IgG level, Bronchiectasis, Decrea... |
OMIM:193670 |
| Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... |
ORPHA:247806 |
| Paraneoplastic Pemphigus |
|
Thymoma, Sarcoma, B-cell lymphoma |
ORPHA:63455 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Lung adenocarcinoma, Proteinuria, Tubu... |
OMIM:618913 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Failure to thrive, Hep... |
OMIM:615285 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Hepatomegaly, Eczematoid dermatitis, P... |
OMIM:269840 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
| Spondyloenchondrodysplasia |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Juvenile rheumatoid arthri... |
ORPHA:1855 |
| Analbuminemia |
|
Patent ductus arteriosus, Elevated circulating transferrin concentration, Lipodystrophy, Increase... |
OMIM:616000 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Anemia, Arthritis, Hematuria, Autoimmunity, Proteinuria, Renal insufficiency |
ORPHA:375 |
| Aicardi Syndrome |
|
Precocious puberty, Hemangioma, Carcinoma, Teratoma, Hepatoblastoma, Recurrent pneumonia, Lipoma,... |
OMIM:304050 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Myelodysplasia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Micr... |
ORPHA:231401 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Crescentic glomerulonephritis, Antinuclear antibody positivity, Arthr... |
OMIM:616414 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Breast carcinoma, Renal oncocytoma, Papillary renal cell carcinom... |
ORPHA:97290 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... |
ORPHA:79665 |
| Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:608540 |
| Werner Syndrome |
|
Breast carcinoma, Ovarian neoplasm, Thyroid carcinoma, Sarcoma, Squamous cell carcinoma, Gastroin... |
ORPHA:902 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Nephrotic syndrome, Granuloma... |
OMIM:618935 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Chronic otitis media, Bone marrow hypocellularity, He... |
ORPHA:3226 |
| Bazex Syndrome |
|
Anemia, Lung adenocarcinoma, Neoplasm, Liposarcoma, Pruritus |
ORPHA:166113 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Cryptorchidi... |
ORPHA:3055 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti... |
OMIM:614699 |
| Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Hemangiom... |
ORPHA:824 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Neutropenia, Periodontitis, Acut... |
ORPHA:486 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Antinuclear antibody positivity, Increased circulating IgG4 level, Increased c... |
ORPHA:449400 |
| Waldenström Macroglobulinemia |
|
Lymphoma, Leukemia, Normocytic anemia, Cryoglobulinemia, Abnormality of neutrophils, Lymphadenopa... |
ORPHA:33226 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Acute kidney injury, Lymph... |
ORPHA:859 |
| Neuraminidase Deficiency |
|
Ascites, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptid... |
OMIM:256550 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Precocious puberty, High palate, Small for gestational age, Pyloric stenosi... |
ORPHA:96184 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Supernumerary nipple, Chronic tubulointerstitial nephritis, Glome... |
OMIM:614376 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Polysplenia, Bilater... |
ORPHA:457083 |
| Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Pancytopeni... |
OMIM:618394 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Rheumatoid factor positive, Lymphadenopathy, Hepatomegaly, Antinuclear antibody positivity, Splen... |
OMIM:618852 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
| Igg4-Related Thyroid Disease |
|
Hypothyroidism, Increased circulating IgG4 level, Retroperitoneal fibrosis, Anti-thyroid peroxida... |
ORPHA:64744 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... |
OMIM:264470 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Peritonitis, Minimal ... |
ORPHA:567548 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Arthritis, Myositis, Pustule, Lymphadenopa... |
ORPHA:69126 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hepatomega... |
OMIM:619868 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
| Igg4-Related Ophthalmic Disease |
|
Increased circulating IgG4 level, Prostatitis, Eosinophilia, Sialadenitis, Orchitis, Antinuclear ... |
ORPHA:449563 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... |
OMIM:301078 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Nephropathy, Cholestatic liver disease, Chronic kidney di... |
OMIM:602114 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Xeroderma Pigmentosum, Variant Type |
|
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma |
OMIM:278750 |
| Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Neoplasm, Cholestasis, Hepatomegaly, Splenomegaly |
ORPHA:172 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia |
ORPHA:228312 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Hypoplasia of penis, Cryptorchidism, Obesity, Micropenis |
ORPHA:85274 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Foamy urine, Diff... |
ORPHA:656 |
| Babesiosis |
|
Leukopenia, Hyperhidrosis, Hemolytic anemia, Jaundice, Thrombocytopenia, Hepatomegaly, Renal insu... |
ORPHA:108 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Hepatocellular carcinoma, Portal fibrosis... |
ORPHA:369 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hypothyroidism, Decreased circulating antibody level, Neutropenia in presence of anti-neutropil a... |
OMIM:615952 |
| Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, External genital hypoplasia, Renal... |
OMIM:615993 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Large for gestational age, Overgrowth, Inguinal hernia, Umbilica... |
OMIM:618272 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Hematuria, Cryog... |
ORPHA:91138 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Increased circulating interleukin 6 concentration, Hemolytic anemia, Coombs-positive he... |
OMIM:614034 |
| Familial Multinodular Goiter |
|
Pilomatrixoma, Pleuropulmonary blastoma, Colorectal polyposis, Cerebellar medulloblastoma, Alveol... |
ORPHA:276399 |
| Chromomycosis |
|
Squamous cell carcinoma, Pruritus, Multiple cutaneous malignancies |
ORPHA:182 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Decreased circulating complement C3 concentration, Hematuria, Autoimmunity, Rheumatoid fa... |
ORPHA:90060 |
| Common Variable Immunodeficiency |
|
Lymphoma, Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Decreased circulating antib... |
ORPHA:1572 |
| Chondrocalcinosis 1 |
|
Chondrocalcinosis, Osteoarthritis |
OMIM:600668 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... |
OMIM:619048 |
| Postinfectious Vasculitis |
|
Bacterial endocarditis, Inflammatory abnormality of the skin, Increased circulating antibody leve... |
ORPHA:48435 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lym... |
OMIM:609981 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Papillary renal cell carcinoma, Nodular goiter, Neoplasm of head ... |
ORPHA:319487 |
| Lung Cancer |
|
Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
| Follicular Lymphoma |
|
Lymphoma, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Subcutaneous panniculitis-like T-cell lymphoma, Autoimmunity, Pancytopenia, Hemophagocyto... |
OMIM:618398 |
| Frasier Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Male pseudohermaphroditism, Gonadal dysgenesi... |
OMIM:136680 |
| Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythematous dermatitis, Pruritu... |
ORPHA:79147 |
| Leukocyte Adhesion Deficiency |
|
Hemolytic-uremic syndrome, Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neu... |
ORPHA:2968 |
| Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
| Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Myelodysplasia |
ORPHA:721 |
| Cancer-Associated Retinopathy |
|
Pancreatic adenocarcinoma, Thymoma, Prostate cancer, Uterine neoplasm, Neoplasm of the pancreas, ... |
ORPHA:71505 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Abnormal lymph node morphology, Anemia, Rena... |
ORPHA:85450 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, ... |
OMIM:606367 |
| Pyoderma Gangrenosum |
|
Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Myelodysplasia, Myo... |
ORPHA:48104 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
| Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney disease, Adrenal insuffi... |
OMIM:617575 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria |
OMIM:161900 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly |
OMIM:606445 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Hypogonadism |
OMIM:615987 |
| Tempi Syndrome |
|
Increased hematocrit, Abnormality of the kidney, Polycythemia, Hemangioma, Ascites, Increased cir... |
ORPHA:284227 |
| Subcorneal Pustular Dermatosis |
|
Hypothyroidism, Hyperthyroidism, Rheumatoid arthritis, Increased circulating antibody level, Mult... |
ORPHA:48377 |
| Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615995 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Pruritus, Periportal fibrosis, Hyp... |
ORPHA:64743 |
| Nephronophthisis |
|
Renal insufficiency, Anemia |
ORPHA:655 |
| X-Linked Agammaglobulinemia |
|
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Hepatitis, Skin rash, Arthritis, Autoimmunity... |
ORPHA:47 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Hyperlipidemia, Hypercholesterolemia, Protein-losing enteropa... |
OMIM:615863 |
