Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis |
OMIM:619549 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... |
OMIM:193670 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... |
OMIM:226990 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... |
ORPHA:169079 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... |
OMIM:607594 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... |
OMIM:240500 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infection... |
ORPHA:572 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... |
OMIM:243700 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Decreased proportion of naive T cells, Abn... |
ORPHA:276 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenom... |
OMIM:607624 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... |
OMIM:608184 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc... |
ORPHA:98813 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch... |
OMIM:613496 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... |
OMIM:616005 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233710 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility |
OMIM:266265 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233690 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... |
OMIM:618986 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... |
ORPHA:83471 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Recurrent viral i... |
OMIM:618048 |
Immunodeficiency 21 |
|
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... |
OMIM:614172 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... |
OMIM:147060 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hypouricemia, Increased circulat... |
OMIM:613179 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... |
OMIM:300291 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Recurrent viral i... |
ORPHA:911 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:306400 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu... |
OMIM:116920 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor... |
OMIM:606367 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... |
ORPHA:167 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... |
OMIM:603554 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Recurrent tonsill... |
OMIM:618935 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Immunodeficiency 12 |
|
Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Absent iso... |
OMIM:615468 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Liver abs... |
ORPHA:183675 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis |
OMIM:260570 |
Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Recurrent viral infections, Recurrent mycobacterial infections, Splenomegaly, S... |
ORPHA:169090 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Abscess, Recurrent staphylococcal infections,... |
OMIM:615816 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... |
OMIM:612840 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent... |
ORPHA:221139 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Recurrent pne... |
OMIM:608233 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... |
ORPHA:51636 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, De... |
OMIM:300972 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent urinary tract infections, Polycythemia, Recurrent staphylococca... |
ORPHA:2968 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... |
OMIM:612541 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Thrombocytopenia, Hyperkalemia, Sepsis, Recurre... |
OMIM:617053 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Lymphopenia, Elevated circulat... |
OMIM:242840 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Elevated circulating C-reactive protein concentration... |
ORPHA:48435 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H... |
ORPHA:470 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Recurrent bacteri... |
OMIM:615895 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antib... |
OMIM:248500 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Sickle Cell Disease |
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Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... |
OMIM:603903 |
46,Xy Sex Reversal 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Congenital Disorder Of Glycosylation, Type Iit |
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Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Idiopathic Bronchiectasis |
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Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology |
ORPHA:398189 |
Hypocomplementemic Urticarial Vasculitis |
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Splenomegaly, Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Aapoaiv Amyloidosis |
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Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Juvenile Nephropathic Cystinosis |
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Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Senior-Loken Syndrome 1 |
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Elevated circulating creatinine concentration |
OMIM:266900 |
Dopamine Beta-Hydroxylase Deficiency |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Glycogen Storage Disease Ib |
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Splenomegaly, Hyperlipidemia, Recurrent bacterial infections, Hyperuricemia, Neutropenia |
OMIM:232220 |
Bacterial Toxic-Shock Syndrome |
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Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Elevated circulating creatinine concentration |
ORPHA:247691 |
Primary Ciliary Dyskinesia |
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Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... |
ORPHA:244 |
Igg4-Related Retroperitoneal Fibrosis |
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Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Papillorenal Syndrome |
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Elevated circulating creatinine concentration |
OMIM:120330 |
Multiple Myeloma |
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Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Chromomycosis |
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Recurrent bacterial infections |
ORPHA:182 |
Oligomeganephronia |
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Elevated circulating creatinine concentration |
ORPHA:2260 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Recurrent bacterial infections, Hyperu... |
ORPHA:79259 |
Autosomal Dominant Polycystic Kidney Disease |
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Elevated circulating creatinine concentration |
ORPHA:730 |
Cardiogenic Shock |
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Elevated circulating creatinine concentration |
ORPHA:97292 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Elevated circulating creatinine concentration |
OMIM:617478 |
Infantile Systemic Hyalinosis |
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Recurrent bacterial infections |
ORPHA:2176 |
Primary Sclerosing Cholangitis |
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Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen... |
ORPHA:171 |
Hemorrhagic Fever-Renal Syndrome |
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Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Marburg Hemorrhagic Fever |
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Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Renal Cysts And Diabetes Syndrome |
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Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Cystic Fibrosis |
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Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Say-Barber-Miller Syndrome |
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Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... |
ORPHA:3132 |
Pauci-Immune Glomerulonephritis |
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Elevated circulating creatinine concentration |
ORPHA:93126 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Igg4-Related Kidney Disease |
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Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Atrial Septal Defect, Coronary Sinus Type |
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Recurrent bacterial infections |
ORPHA:99104 |
Yellow Fever |
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Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Atrial Septal Defect, Ostium Secundum Type |
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Recurrent bacterial infections |
ORPHA:99103 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia |
ORPHA:642 |
Pmm2-Cdg |
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Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired neutrophil chemotaxis |
ORPHA:79318 |