Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... |
OMIM:615861 |
Systemic Lupus Erythematosus 16 |
|
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... |
OMIM:614420 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... |
OMIM:617006 |
C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
C1Q Deficiency 1 |
|
Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulonephritis |
OMIM:613652 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... |
OMIM:619375 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupus... |
OMIM:613779 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Pneumonia |
OMIM:247800 |
Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
Systemic Lupus Erythematosus |
|
Leukopenia, Malar rash, Hemolytic anemia, Arthritis, Lupus nephritis, Nephritis, Pericarditis, Sy... |
OMIM:152700 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Antinuclear a... |
OMIM:615559 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Autoimmunity, Serositis... |
ORPHA:567544 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Pancytopenia, In... |
OMIM:300635 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Recurrent otitis media, Autoimmune thrombocytopenia, Au... |
ORPHA:444463 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Recurrent infections, Pr... |
OMIM:613913 |
Actinic Prurigo |
|
Pyoderma, Cheilitis, Glomerulonephritis |
OMIM:174770 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Neutropenia, Villous atrophy, Recurrent urinary tract infections, Malab... |
OMIM:209920 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Glome... |
OMIM:607665 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Chronic oral candidiasis, Recurrent herpes, Increased circulating a... |
ORPHA:169160 |
Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Granuloma, Chilblains, Membranoproliferative glomerulonephritis, Pancytopenia, ... |
OMIM:619858 |
C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
Idiopathic Pulmonary Hemosiderosis |
|
Autoimmune antibody positivity, Rheumatoid factor positive, Hepatosplenomegaly, Glomerulonephriti... |
ORPHA:99931 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Recurrent infections, Pr... |
OMIM:608709 |
Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis |
OMIM:114550 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... |
OMIM:619263 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Coombs-positive hemolyti... |
OMIM:304790 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Hematuria |
OMIM:314000 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Menin... |
OMIM:614379 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Immunodeficiency 56 |
|
Hepatic failure, Cirrhosis, Panhypogammaglobulinemia, Bronchiectasis, Chronic hepatitis due to cr... |
OMIM:615207 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosi... |
ORPHA:2137 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Meningitis, Hepatomegaly, Absence of lymph node germinal center, Thromboc... |
OMIM:308230 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Eo... |
OMIM:618999 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Arthritis, Crescentic glomerulonephritis, Antinuclear antibody positi... |
OMIM:616414 |
Complement Factor I Deficiency |
|
Septic arthritis, Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections... |
OMIM:610984 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, High palate, Osteomyelitis, Bronchiectasis, Neutropenia, Malabsorption, Skin rash... |
ORPHA:33110 |
Thymic Aplasia |
|
Opportunistic infection, T lymphocytopenia, Recurrent Staphylococcus aureus infections, Coombs-po... |
ORPHA:83471 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Membranoprolife... |
OMIM:619644 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Malabsorption, Skin rash, Arthritis, Hepatiti... |
ORPHA:47 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Celiac disease, Psoriasiform dermatitis, Pneumonia, Atopic derma... |
ORPHA:183675 |
Athrombia, Essential |
|
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation |
OMIM:209050 |
Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice, Eosinophilia |
OMIM:234350 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Duodenal atresia, Inte... |
OMIM:243150 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased ... |
ORPHA:572 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Cytoplasmic antineutrophil ... |
ORPHA:93126 |
Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
Melioidosis |
|
Septic arthritis, Brain abscess, Sepsis, Prostatitis, Abnormal parotid gland morphology, Hepatiti... |
ORPHA:31202 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Autoimmunity, Pancytopenia, Autoimmune thrombocyto... |
OMIM:614470 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Fat malabsorption, Jaundice, Elevated hepatic transaminase, Acholic s... |
OMIM:607765 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Rheumatoid factor positive, Lymphadenopathy, Hepatomegaly, Antinuclear antibody positivity, Splen... |
OMIM:618852 |
Immunodeficiency 84 |
|
Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Sple... |
OMIM:619437 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Chronic infection, Hepatocellular carcinoma, Congestive heart failur... |
ORPHA:139507 |
Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia |
ORPHA:228312 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp... |
OMIM:605258 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Severe Epstein Barr virus infection, Meningitis, Hepatomegaly, Thrombocytopenia, Aplastic anemia,... |
OMIM:308240 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
OMIM:601859 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
Focal Segmental Glomerulosclerosis 9 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis |
OMIM:616220 |
Thymoma |
|
Anti-acetylcholine receptor antibody positivity, Rheumatoid arthritis, Pure red cell aplasia, Aut... |
ORPHA:99867 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly |
ORPHA:60 |
Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
Adult-Onset Still Disease |
|
Hepatitis, Skin rash, Arthritis, Neutrophilia, Elevated hepatic transaminase, Generalized lymphad... |
ORPHA:829 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczema... |
ORPHA:37042 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Chronic sinusitis, Recu... |
OMIM:613502 |
Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Eczema, Bone marrow hypocellularity, Eosinophilia, Decreased p... |
ORPHA:443811 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal... |
OMIM:603909 |
Trimethylaminuria |
|
Anemia, Trimethylaminuria, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Acute kidney injury, Normocytic anemia, Deep dermal perivascular inflamm... |
ORPHA:49041 |
Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:619267 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... |
ORPHA:231154 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Recurrent upper and lower respiratory tract infections, Lymphadenopathy, Recurrent ... |
OMIM:608106 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:612551 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome,... |
OMIM:307200 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Peritonitis, Minimal ... |
ORPHA:567548 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Immunodeficiency 7 |
|
Hypereosinophilia, Chronic oral candidiasis, Autoimmunity, Recurrent otitis media, Autoimmune hem... |
OMIM:615387 |
Graft Versus Host Disease |
|
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Fasciitis, Inflammatory... |
ORPHA:39812 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Fat malabsorption, Elevated hepatic transaminase, Elevated circulating aspartate... |
OMIM:214950 |
Felty Syndrome |
|
Neutropenia, Splenomegaly, Rheumatoid arthritis |
OMIM:134750 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Griscelli Syndrome |
|
Leukopenia, Decreased circulating antibody level, Hepatitis, Pyloric stenosis, Jaundice, Abnormal... |
ORPHA:381 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Thrombocytopenia, A... |
ORPHA:848 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Recurrent mycobacterial infections, Coccidioidomycosis, Disseminated nontuberculou... |
ORPHA:319552 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Aut... |
OMIM:619220 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Anemia, Stage 5 chronic kidney disease, Minimal change glomeruloneph... |
ORPHA:1830 |
Immunodeficiency 64 With Lymphoproliferation |
|
Anti-thyroid peroxidase antibody positivity, Bronchiectasis, Decreased proportion of CD4-positive... |
OMIM:618534 |
Nephrotic Syndrome, Type 4 |
|
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... |
OMIM:256370 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Fat malabsorption, Jaundice, Extramedullary hematopoiesis, Elevated hepatic tran... |
ORPHA:79303 |
Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Primary Biliary Cholangitis |
|
Onychomycosis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hepatitis, Jaundi... |
ORPHA:186 |
Wilson Disease |
|
Cirrhosis, Anemia, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic steatos... |
ORPHA:905 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
Legionnaires Disease |
|
Hypotension, Endocarditis, Hepatitis, Jaundice, Pancreatitis, Recurrent pharyngitis, Lymphopenia,... |
ORPHA:549 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent respiratory infections, Re... |
OMIM:613500 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, De... |
OMIM:617514 |
Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
Immunodeficiency 23 |
|
Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Eczema, Lymphopenia, Rheumatoid factor posit... |
OMIM:615816 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis, Recurrent respiratory infections |
ORPHA:363523 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Rheumatoid factor positive, Lymphadenopathy, Increased inflammatory r... |
OMIM:209950 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Elevated circulating alanine aminotransferase concentration, ... |
ORPHA:158061 |
Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmunity, Recurrent otitis media... |
OMIM:618495 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Elevated alkaline phosphatase of hepatic origin, Cholangiocarcinoma, Hepatocel... |
ORPHA:171 |
Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Viral hepatitis, Gastrointestina... |
ORPHA:91138 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis... |
ORPHA:2688 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cirrhosis, Hepatitis, Hypersplenism, Thyroiditis, Neutropenia in presence of anti-neutropil antib... |
ORPHA:228426 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Hepatitis, Cardiac arrest, Skin rash, Thyroiditis, Elevated hepatic... |
ORPHA:139402 |
Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Bronchiectasis, Eczema, Hepatosplenomegaly, Abnormal intestine morphology, Eso... |
ORPHA:391487 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... |
OMIM:301078 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Neutropenia i... |
OMIM:607594 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Eczema, Systemic lupus erythematosus, Bone marrow hypocellula... |
OMIM:616871 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Cirrhosis, Keratoconjunctivitis, Hepatitis, Steatorrhea, Chronic mucocutaneous... |
OMIM:269200 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
Congenital Enterovirus Infection |
|
Hypotension, Leukopenia, Hepatic failure, Anemia, Neutropenia, Abnormal macrophage morphology, He... |
ORPHA:292 |
Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... |
ORPHA:1304 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Increased circulating antibody level, Hepatitis, Lymphopenia, Acute pancreatitis, Gas... |
ORPHA:319218 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Cholestatic liver disease, Jaundice, Splenic cys... |
ORPHA:400 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Elevated circulating alanine aminotransfer... |
OMIM:614921 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Hepatom... |
OMIM:614376 |
Postinfectious Vasculitis |
|
Severe Epstein Barr virus infection, Ischemic stroke, Recurrent Staphylococcus aureus infections,... |
ORPHA:48435 |
Aspergillosis |
|
Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis, Unusual CNS infection, Invasive pulmonary ... |
ORPHA:1163 |
Q Fever |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Abnormal left ventricular functi... |
ORPHA:781 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Septic arthritis, Fasciitis, Shock, Glomerulonephritis, Myositis, Meningitis, Capill... |
ORPHA:36234 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Nephrotic syndrome, Arthritis, Abnormality of the kidney, Membranopro... |
ORPHA:91139 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thr... |
OMIM:603552 |
Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
Immunodeficiency 82 With Systemic Inflammation |
|
T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Sple... |
OMIM:619381 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria |
OMIM:619428 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Generalized lymphadenopathy, Recurrent mycobac... |
OMIM:615978 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... |
ORPHA:449395 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Gastroesophageal reflux, Hepatitis, Hypersplenism, Pancytopenia, Hashimoto thyroiditis, Decreased... |
OMIM:613385 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Periportal fibrosis, Hepatic lobular inflammation, Elevated ... |
ORPHA:101330 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatitis, Intestinal mal... |
ORPHA:436252 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Autoimmunity, Pancytopenia, Hemophagocytosis, Panniculitis, Splenomegaly |
OMIM:618398 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Autoimmunity, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Thymoma, Biliary cirrhosis, Atrophic gastritis, Leukopenia, Non-cas... |
ORPHA:227990 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Nephrotic syndrome, Granuloma... |
OMIM:618935 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233710 |
Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Thymoma, Biliary cirrhosis, Atrophic gastritis, Leukopenia, Non-cas... |
ORPHA:227982 |
Lichen Planopilaris |
|
Hepatitis, Abnormal intestine morphology |
ORPHA:525 |
Lymphatic Filariasis |
|
Lymphadenitis, Lymphangiectasis, Hypereosinophilia, Nephrotic syndrome, Abnormality of the kidney... |
ORPHA:2035 |
Immunodeficiency 69 |
|
Anemia, Skin rash, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Depression, Ag... |
ORPHA:66624 |
Avian Influenza |
|
Conjunctivitis, Leukopenia, Myelitis, Hepatitis, Elevated hepatic transaminase, Congestive heart ... |
ORPHA:454836 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... |
ORPHA:562639 |
Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Argininuria, ... |
ORPHA:470 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Chronic infection, Hypersplenism, Jaundice, Reduced hemoglobin A, He... |
ORPHA:231226 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Villous atrophy, Colitis, Hepatomegaly, Chronic hepatitis |
OMIM:614602 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233690 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Interface hepatitis, Elevated circulating asparta... |
OMIM:611182 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Hashimoto thyroidi... |
OMIM:618549 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Sp... |
OMIM:105200 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Cholestasis, ... |
OMIM:610199 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, Eosinophilia, Hepatomegaly, Impai... |
OMIM:226990 |
Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:273800 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Autoimmunity, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Omenn Syndrome |
|
Anemia, Erythroderma, Nephrotic syndrome, Thyroiditis, Autoimmunity, Lymphadenopathy, Eosinophili... |
ORPHA:39041 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Lymphadenopathy, Hepatomega... |
ORPHA:85414 |
X-Linked Lymphoproliferative Disease |
|
Severe Epstein Barr virus infection, T lymphocytopenia, Elevated hepatic transaminase, Hepatosple... |
ORPHA:2442 |
Gamma-Heavy Chain Disease |
|
Anemia, Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune he... |
ORPHA:100026 |
Microsporidiosis |
|
Brain abscess, Prostatitis, Biliary tract abnormality, Myositis, Decreased proportion of CD4-posi... |
ORPHA:2552 |
Aicardi-Goutieres Syndrome 7 |
|
Generalized lymphadenopathy, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatomegaly, Hemate... |
OMIM:615846 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur... |
OMIM:150550 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Renal cyst, Gout, Nephropathy, Focal segmental glomerulosclerosis, Neutropenia, Chronic k... |
OMIM:617056 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Zygomycosis |
|
Brain abscess, Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Splenic abscess, Unusual... |
ORPHA:73263 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary... |
ORPHA:90033 |
Isolated Sedoheptulokinase Deficiency |
|
Anemia, Hepatitis, Steatorrhea, Hypochromic microcytic anemia, Cholestasis, Cholestatic liver dis... |
ORPHA:440713 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Myasthenia Gravis |
|
Hemolytic anemia, Rheumatoid arthritis, Hepatitis, Raynaud phenomenon, Myositis, Abnormality of t... |
ORPHA:589 |
Felty Syndrome |
|
Anemia, Rhinitis, Recurrent urinary tract infections, Arthritis, Synovitis, Autoimmunity, Pericar... |
ORPHA:47612 |
Budd-Chiari Syndrome |
|
Cirrhosis, Malabsorption, Jaundice, Peritonitis, Elevated hepatic transaminase, Cholecystitis, In... |
ORPHA:131 |
Systemic Sclerosis |
|
Anti-centromere antibody positivity, Osteomyelitis, Acute kidney injury, Arthritis, Abnormality o... |
ORPHA:90291 |
Kawasaki Disease |
|
Conjunctivitis, Hepatitis, Skin rash, Arthritis, Jaundice, Recurrent pharyngitis, Congestive hear... |
ORPHA:2331 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... |
OMIM:616217 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmunity, Stomatitis, Pancytopenia, Autoimmune thrombocytopenia, Autoimmu... |
OMIM:613011 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Impaired collagen-indu... |
OMIM:614201 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Giant cell ... |
ORPHA:79095 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Atrophic gastritis, Chronic oral candidiasis, Keratoconjunctivitis, Chronic active hepa... |
OMIM:240300 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Bronchiectasis, Ulcerative colitis, Pancytopenia, Perinuclear antineutrophil ant... |
OMIM:618394 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammation of the large intestine, Recurr... |
OMIM:619281 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Elevated hepatic transaminase, Eczema, Generalized lymphadenopathy, ... |
ORPHA:3260 |
Congenital Isolated Acth Deficiency |
|
Hypotension, Prolonged neonatal jaundice, Hepatitis |
ORPHA:199296 |
Spondyloenchondrodysplasia |
|
Juvenile rheumatoid arthritis, Hepatitis, Skin rash, Arthritis, Raynaud phenomenon, Hypertension,... |
ORPHA:1855 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Macroscopic... |
ORPHA:251004 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Hepatitis, Skin rash, Recurrent infections, Recurrent respira... |
ORPHA:1334 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Achalasia, Decreased circulating antibody level, Interstitial pneumonitis, Neutropenia in presenc... |
OMIM:615952 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Rift Valley Fever |
|
Retinal hemorrhage, Anemia, Hepatitis, Skin rash, Jaundice, Elevated hepatic transaminase, Severe... |
ORPHA:319251 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pulmonary lymphangiectasia, Membranoproliferative glomerulonephritis, Renal insufficiency, Abnorm... |
OMIM:137940 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... |
OMIM:616005 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Anemia, Decreased circulating antibody level, Malabsorption, Abnormal intesti... |
OMIM:226300 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Chronic otitis media, Bone marrow hypocellularity, He... |
ORPHA:3226 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro... |
ORPHA:209902 |
Mucopolysaccharidosis Type 7 |
|
Hepatitis, Recurrent respiratory infections, Splenomegaly |
ORPHA:584 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Acute lymphoblast... |
ORPHA:486 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time |
OMIM:608404 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Acute hepatitis, Hepatomegaly |
OMIM:238970 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Hemolytic-uremic syndrome, Perianal abscess, Bronchiectasis, Impaired neu... |
ORPHA:2968 |
Goodpasture Syndrome |
|
Glomerular crescent formation, Anti-myeloperoxidase antibody positivity, Anemia, Cytoplasmic anti... |
OMIM:233450 |
Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Biliary cirrhosis, Cirrhosis, Fulminant hepatitis, Jaundice, Hyp... |
OMIM:215600 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... |
ORPHA:567546 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Anemia, Anuria, Acute tubulointerstitial nephritis, Acute kidney in... |
ORPHA:340 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Neonatal Lupus Erythematosus |
|
Malar rash, Anemia, Maculopapular exanthema, Abnormality of the liver, Neutropenia, Hemolytic ane... |
ORPHA:398124 |
Primary Sjögren Syndrome |
|
Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Myositis, Glomerulonephr... |
ORPHA:289390 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Jaundice, Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Cholestatic liver di... |
OMIM:613404 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Dec... |
ORPHA:169154 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Eczema, Neutropenia |
OMIM:300299 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Bronchiectasis, Arthritis, Eczema, Lymphopenia, Autoimmune t... |
OMIM:616100 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Chronic active hepatitis, Elevated hepatic transaminase, Hypertensi... |
OMIM:203800 |
Late-Onset Isolated Acth Deficiency |
|
Hypotension, Hepatitis, Normocytic anemia, Celiac disease, Hashimoto thyroiditis, Eosinophilia, M... |
ORPHA:199299 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Immunodeficiency 67 |
|
Liver abscess, Recurrent staphylococcal infections, Recurrent streptococcal infections, Increased... |
OMIM:607676 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Intrahepatic biliary atresia, Jaundice, Elevated hepatic transaminase, Elevated gamma-glutamyltra... |
OMIM:208085 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Panhypogammaglobulinemia, Neutropenia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly |
ORPHA:90037 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time |
OMIM:614158 |
Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Autoimmune antibody positivity, Bone marrow hypocellular... |
ORPHA:88 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Myh9-Related Disease |
|
Nephritis, Nephropathy, Proteinuria, Prolonged bleeding time, Renal insufficiency |
ORPHA:182050 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Pneumonia |
OMIM:266265 |
Immunodeficiency 17 |
|
Chronic decreased cirulating IgG2, Chronic oral candidiasis, T lymphocytopenia, Abnormal B cell m... |
OMIM:615607 |
Wilson Disease |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Anemia, ... |
OMIM:277900 |
Relapsing Polychondritis |
|
Conjunctivitis, Recurrent aphthous stomatitis, Scleritis, Large vessel vasculitis, Arthritis, Inf... |
ORPHA:728 |
Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Hepatitis, Skin rash, Jaundice, Uveitis, P... |
ORPHA:509 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Abnormality of the kidney, Impaired ADP-induced platelet aggregation, Im... |
OMIM:155100 |
Acute Disseminated Encephalomyelitis |
|
Severe Epstein Barr virus infection, Myelitis, Herpes simplex encephalitis, Post-vaccination meas... |
ORPHA:83597 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Liver abscess... |
ORPHA:54251 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Inflammatory abnormality of the skin, Skin rash, Lymphopenia, Autoimmune throm... |
OMIM:102700 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Urachal cyst, Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excisi... |
OMIM:608203 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Hemat... |
OMIM:603903 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Anemia, Prolonged neonatal jaundice, Increased hepatic echogenicity, Moderate albuminuria, Membra... |
OMIM:619525 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Anemia, Stage 5 chronic kidney disease, Rena... |
OMIM:174000 |
Factor V Deficiency |
|
Prolonged bleeding time, Prolonged prothrombin time |
OMIM:227400 |
Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Hepatitis, Pancytopenia, Cholestasis, Bone marrow hypocellularity, Hepat... |
ORPHA:562 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... |
OMIM:300908 |
Relapsing Fever |
|
Leukopenia, Anemia, Acute kidney injury, Jaundice, Neutrophilia, Hematuria, Leukocytosis, Abnorma... |
ORPHA:91547 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Elevated urine mevalonic acid level, Chronic oral candidiasis, Renal angiomyolipom... |
OMIM:260920 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... |
OMIM:235700 |
Familial Mediterranean Fever |
|
Crohn's disease, Nephrotic syndrome, Stage 5 chronic kidney disease, Arthritis, Renal amyloidosis... |
OMIM:249100 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Gout, Inflammation of the large intestin... |
OMIM:232220 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Glomerulonephritis, Colitis, Protei... |
ORPHA:90068 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Abnormality of the urinary system, Anemia, IgA deposition in the glomerulus, Urinary bladder sphi... |
ORPHA:79408 |
Gaucher Disease |
|
Pulmonary arterial hypertension, Cirrhosis, Anemia, Osteomyelitis, Increased circulating antibody... |
ORPHA:355 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Neutrophilia, Stomatitis, Pustule, Hepatomegaly, Splenomegaly, Abscess |
OMIM:612852 |
Occipital Horn Syndrome |
|
Gastroesophageal reflux, Recurrent urinary tract infections, Hepatitis, Jaundice, Abnormal esopha... |
ORPHA:198 |
Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Myocarditis, Rhinitis, Maculopapular exanthema, Fulminant hepatitis, Ski... |
ORPHA:319213 |
Acute Liver Failure |
|
Hypotension, Hepatocellular necrosis, Skin rash, Hepatic necrosis, Jaundice, Elevated hepatic tra... |
ORPHA:90062 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Psoriasiform dermatitis |
OMIM:614204 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Hepatitis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function |
ORPHA:415 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Neutrophilia, Lymphadenopathy, Panniculitis, Leukocytosis, Increased proportion of CD4... |
OMIM:617099 |
Sweet Syndrome |
|
Acute myeloid leukemia, Anemia, Oligoarthritis, Sterile abscess, Chronic lymphatic leukemia, Acne... |
ORPHA:3243 |
Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired collagen-induce... |
OMIM:139090 |
Prothrombin Deficiency, Congenital |
|
Prolonged bleeding time, Prolonged prothrombin time |
OMIM:613679 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Neutrophilia, Leukocytosis, Pneumonia, Acute infectious pneumonia |
ORPHA:36238 |
Pneumocystosis |
|
Interstitial pneumonitis, Abnormal neutrophil count, Chronic oral candidiasis, Acute infectious p... |
ORPHA:723 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time |
OMIM:185050 |
Behçet Disease |
|
Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, Meningitis, Splen... |
ORPHA:117 |
Alström Syndrome |
|
Elevated hepatic transaminase, Recurrent sinusitis, Hepatosplenomegaly, Hepatic steatosis, Glomer... |
ORPHA:64 |
Crimean-Congo Hemorrhagic Fever |
|
Hemoperitoneum, Parotitis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Morbilliform rash, Epidi... |
ORPHA:99827 |
Yellow Fever |
|
Anuria, Renal insufficiency, Pancreatic hyperplasia, Acute kidney injury, Skin rash, Jaundice, Ne... |
ORPHA:99829 |