Candidiasis, Familial, 6 |
|
Chronic mucocutaneous candidiasis |
OMIM:613956 |
Lymphoblastic Transformation, Intrinsic Defect In |
|
Chronic mucocutaneous candidiasis |
OMIM:247450 |
Lymphoblastic Transformation, Inhibition Of |
|
Chronic mucocutaneous candidiasis |
OMIM:247430 |
Lymphokine Deficiency |
|
Chronic mucocutaneous candidiasis |
OMIM:247650 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis |
OMIM:613737 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Benign Cephalic Histiocytosis |
|
Skin rash, Inflammatory abnormality of the skin |
ORPHA:157997 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... |
OMIM:613953 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... |
OMIM:617006 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
Kerion Celsi |
|
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... |
ORPHA:499 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Anti-thyroid peroxidase antibody positivity, Decreased lymphocyte proliferation in ... |
OMIM:618534 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis |
OMIM:613736 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Autoimmunity, Serositis... |
ORPHA:567544 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Autoimmunity, Recurrent sinusitis, Recurrent otitis media, Recurr... |
OMIM:240500 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Allergic rhinitis, Eczema, Erythroderma, Pruritus |
ORPHA:330064 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Anti-thyroid peroxidase antibody positivity, B lymphocytopenia, T lymphocytopenia, Lack of T cell... |
ORPHA:277 |
Autoimmune Lymphoproliferative Syndrome |
|
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal... |
OMIM:601859 |
Chilblain Lupus |
|
Pruritis on hand, Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the sk... |
ORPHA:90280 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Recurrent ot... |
ORPHA:444463 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Arthritis, Myositis, Pustule, Lymphadenopa... |
ORPHA:69126 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... |
OMIM:603909 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen... |
ORPHA:169160 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Eczema, Co... |
OMIM:607271 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Antinuclear a... |
OMIM:615559 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Sp... |
OMIM:105200 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Chronic decreased circulating total IgG, Decreased specific pneumoco... |
OMIM:613496 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Autoimmunity, Nephritis |
OMIM:216950 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Aut... |
OMIM:619220 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Hepatomegaly, Erythroderma, Colitis, Thrombocytopenia, Splen... |
ORPHA:540 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia i... |
OMIM:607594 |
Immunodeficiency 104 |
|
T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Lymphadenop... |
OMIM:608971 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Chronic oral candidiasis, Cheilitis, Blepharitis |
OMIM:615527 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Incre... |
ORPHA:169154 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Decrea... |
OMIM:300853 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Coombs-positive hemolyti... |
OMIM:304790 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Pityriasis Rubra Pilaris |
|
Pustule, Pruritus, Eczema, Erythroderma |
ORPHA:2897 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmunity, Recurrent otitis media... |
OMIM:618495 |
Immunodeficiency 27A |
|
Anemia, Enlarged mesenteric lymph node, Rheumatoid factor positive, Hepatosplenomegaly, Lymphaden... |
OMIM:209950 |
Omenn Syndrome |
|
Anemia, Erythroderma, Nephrotic syndrome, Thyroiditis, Autoimmunity, Lymphadenopathy, Hepatomegal... |
ORPHA:39041 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Hepatomegaly, Eczematoid dermatitis, P... |
OMIM:269840 |
Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... |
OMIM:618944 |
Epidermolytic Hyperkeratosis |
|
Erythroderma |
OMIM:113800 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Pancytopenia, In... |
OMIM:300635 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... |
OMIM:619375 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... |
OMIM:617609 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythematous dermatitis, Pruritu... |
ORPHA:79147 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis... |
OMIM:617514 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Recurrent urinary tract infections, Eczema, Lymphopenia, Ne... |
OMIM:300988 |
Sézary Syndrome |
|
Abnormal immunoglobulin level, Lymphadenopathy, Hepatomegaly, Erythroderma, Pruritus, Splenomegal... |
ORPHA:3162 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Autoimmunity... |
OMIM:614470 |
Immunodeficiency 15A |
|
Acne inversa, Cutaneous abscess, Recurrent otitis media, Recurrent sinusitis, Chronic mucocutaneo... |
OMIM:618204 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul... |
OMIM:615513 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Pruritus, Jaundice, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:620010 |
Systemic Lupus Erythematosus 16 |
|
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... |
OMIM:614420 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Lymphadenopathy, Elevated c... |
ORPHA:85414 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... |
OMIM:615008 |
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 |
Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Nephropathy, Lymphadenopathy... |
ORPHA:100024 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Reduced natural killer cell count, Erythroderma, Decreased circulating total IgM,... |
OMIM:619510 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level, Antinuclear antibody positivity, Inflammatory abnormality of the skin |
ORPHA:90159 |
Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... |
OMIM:300400 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Rheumatoid factor positive, Lymphadenopathy, Hepatomegaly, Antinuclear antibody positivity, Splen... |
OMIM:618852 |
Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis |
OMIM:147050 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria |
OMIM:161900 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Increased circulating interleukin 6 concentration, Hemolytic anemia, Coombs-positive he... |
OMIM:614034 |
Pediatric Systemic Lupus Erythematosus |
|
Lupus anticoagulant, Myositis, Abnormality of the urinary system, Thrombocytopenia, Antinuclear a... |
ORPHA:93552 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupus... |
OMIM:613779 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA ... |
OMIM:608106 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Lymphocytosis, Autoimmunity, Hepatic steatosis, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Antinuclear antibody positivity, Increased CD4:CD8 ratio, Anti-thyroid peroxidase antibody positi... |
OMIM:618048 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, Systemic lupu... |
ORPHA:411593 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... |
OMIM:613101 |
Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, Erythroderma, B lymphocytopenia, Severe B lymphocytopenia, Lymp... |
OMIM:603554 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti... |
OMIM:614699 |
Epidermodysplasia Verruciformis |
|
Pustule, Seborrheic dermatitis, Recurrent skin infections |
ORPHA:302 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis |
OMIM:613148 |
Hypocomplementemic Urticarial Vasculitis |
|
Conjunctivitis, Glomerulopathy, Pruritus, Episcleritis, Skin rash, Inflammatory abnormality of th... |
ORPHA:36412 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... |
ORPHA:158061 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Chilblains, Membranoproliferative glomerulonephritis, Pancytopenia, Hepatosplen... |
OMIM:619858 |
C1Q Deficiency 1 |
|
Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulonephritis |
OMIM:613652 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Autoimmunity, Stomatitis, Pancytopenia,... |
OMIM:613011 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Pancytopeni... |
OMIM:618394 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Anemia, Arthritis, Autoimmunity, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:375 |
Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Skin rash, Lymphadenopathy, Elevated ... |
OMIM:611762 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Infectious encephalitis, Nephrotic syndrome, Hepatitis, Lymphocytos... |
ORPHA:139402 |
Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... |
OMIM:606843 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent urinary tract infections, Ne... |
OMIM:613179 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Increased circulating ferritin conc... |
OMIM:603552 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Peeling Skin Syndrome 1 |
|
Pruritus, Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
Immunodeficiency 69 |
|
Anemia, Skin rash, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration... |
OMIM:618963 |
Trimethylaminuria |
|
Anemia, Trimethylaminuria, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly |
OMIM:606445 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Seborrhe... |
OMIM:619693 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:600995 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Schnitzler Syndrome |
|
Anemia, Arthritis, Skin rash, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Hep... |
ORPHA:37748 |
Immunodeficiency 58 |
|
Recurrent aphthous stomatitis, Decreased T cell activation, Bronchiectasis, Decreased circulating... |
OMIM:618131 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, Decreased circulating IgG level, Chronic oral candidiasis, B lymph... |
OMIM:301078 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... |
OMIM:608184 |
Netherton Syndrome |
|
Aminoaciduria, Decreased circulating antibody level, Skin rash, Eczema, Ectopic kidney, Erythrode... |
ORPHA:634 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive, Elevated ... |
ORPHA:79099 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Blepharitis, Increased circulating IgE level, Erythroderma |
OMIM:614328 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Bullous Impetigo |
|
Septic arthritis, Recurrent bacterial skin infections, Pustule |
ORPHA:36237 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Immunodeficiency 102 |
|
Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Recurrent skin infections, Decreased proportio... |
OMIM:301082 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:161950 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Nephrotic syndrome, Eczema, L... |
OMIM:618935 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Anemia, Erythroderma, Eczema, Elevated ci... |
OMIM:615895 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... |
OMIM:308230 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Hypoalbu... |
OMIM:603278 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... |
ORPHA:84090 |
Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Autoimmunity, Thrombocytopenia, Abnormality of th... |
ORPHA:275555 |
Isolated Agammaglobulinemia |
|
Anemia, Skin rash, Inflammatory abnormality of the eye, Arthritis, Autoimmunity, Abnormality of t... |
ORPHA:229717 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia |
ORPHA:228312 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Keratitis, Pruritus, Erythroderma |
ORPHA:79394 |
Autoimmune Hepatitis |
|
Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing cholangitis, Diffuse hepatic ... |
ORPHA:2137 |
Indolent Systemic Mastocytosis |
|
Skin rash, Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly,... |
ORPHA:98848 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Sclerosing cholangitis, Decreased proportion of CD4-positive helper T cells, D... |
ORPHA:572 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
Immunodeficiency 42 |
|
Recurrent cutaneous fungal infections, Recurrent aphthous stomatitis, Hypoplasia of the thymus, C... |
OMIM:616622 |
Majeed Syndrome |
|
Glomerulopathy, Abnormal inflammatory response, Osteomyelitis, Inflammatory abnormality of the sk... |
ORPHA:77297 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Infectious encephalitis, Neutropenia, Fulminant hepatitis, Decreased circulating antibody level, ... |
OMIM:308240 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Immunodeficiency 7 |
|
Hypereosinophilia, Chronic oral candidiasis, Autoimmunity, Recurrent otitis media, Autoimmune hem... |
OMIM:615387 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... |
OMIM:617241 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Pustule, Systemic lupus... |
ORPHA:48377 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
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 |
Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Erythroderma, Allergic rhinitis |
OMIM:608649 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti... |
ORPHA:449395 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Abnormality of the kidney, Arthritis, Abnormal renal physiology, Pericarditis, System... |
OMIM:609939 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis |
OMIM:221700 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Thrombocytopenia, Proteinuria |
ORPHA:2134 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Peritonitis, Erysipelas, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Recurrent bacterial skin infections, Chronic oral ... |
ORPHA:911 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Autoimmune antibody positivity, Anti-dsDNA anti... |
ORPHA:90283 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... |
ORPHA:275 |
Pemphigus Foliaceus |
|
Pruritus, Crusting erythematous dermatitis, Autoimmunity, Pustule, Erythroderma, Psoriasiform der... |
ORPHA:79481 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma |
ORPHA:1954 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Eczema, Systemic lupus erythematosus, Bone marrow hypocellula... |
OMIM:616871 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
OMIM:615122 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Dermatitis, Atopic |
|
Conjunctivitis, Allergic rhinitis, Eczema, Recurrent skin infections, Pruritus, Atopic dermatitis |
OMIM:603165 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... |
OMIM:212050 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Systemic Lupus Erythematosus |
|
Leukopenia, Malar rash, Antiphospholipid antibody positivity, Hemolytic anemia, Arthritis, Nephri... |
OMIM:152700 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Pancytopenia, Hepatosplenomegaly, Cystic acne, Thrombocytosis, Elevated circulating C-... |
OMIM:604416 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Hepatic steatosis, Prote... |
OMIM:608709 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Malar rash, Cytoplasmic antineutrophil antibody positivity, Skin rash, Increa... |
OMIM:615934 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... |
OMIM:616005 |
Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:613237 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the liver, Erythroderma, Pruritus, Lymphocytosis, Lymphadenopathy, Hepatomegaly, M... |
ORPHA:79456 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed... |
OMIM:615285 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Foamy urine, Diff... |
ORPHA:656 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
Elastoderma |
|
Eczema, Erysipelas |
ORPHA:228240 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia, Erythema nodosum, Agamm... |
OMIM:615214 |
Acquired Ichthyosis |
|
Recurrent skin infections, Renal insufficiency, Autoimmunity, Pruritus |
ORPHA:454 |
Juvenile Arthritis |
|
Skin rash, Antinuclear antibody positivity, Thrombocytosis, Leukocytosis |
OMIM:618795 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Megaloblastic anemia, Decreased circulating antibody level, Autoimmunity, Eczem... |
OMIM:617780 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Decreased circulating antibody level, Neutropenia in presence of anti-neutropil antibodies, Inter... |
OMIM:615952 |
Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Au... |
OMIM:616576 |
Netherton Syndrome |
|
Hypereosinophilia, Allergic rhinitis, Erythroderma, Increased circulating IgE level, Decreased ci... |
OMIM:256500 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Hypoalbuminemia, Nephrotic syndrome |
OMIM:614652 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneu... |
OMIM:614700 |
Prolidase Deficiency |
|
Anemia, Prolonged neonatal jaundice, Crusting erythematous dermatitis, Increased circulating anti... |
OMIM:170100 |
Drug-Induced Lupus Erythematosus |
|
Malar rash, Anemia, Hematuria, Lupus anticoagulant, Elevated circulating creatine kinase concentr... |
ORPHA:231111 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Hematuria, Viral... |
ORPHA:91138 |
Tularemia |
|
Conjunctivitis, Anemia, Erythema nodosum, Increased circulating antibody level, Skin rash, Inflam... |
ORPHA:3392 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma |
ORPHA:312 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Autoimmunity, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosi... |
OMIM:618398 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... |
ORPHA:231154 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... |
OMIM:614493 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Pruritus, Autoimmunity |
ORPHA:46488 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Increased circulating IgG level, Keratoconjunctivitis sicca, Punctate keratiti... |
OMIM:617388 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1... |
ORPHA:37042 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Hepatitis, Skin rash, Arthritis, Autoimmunity... |
ORPHA:47 |
Q Fever |
|
Lupus anticoagulant, Hepatosplenomegaly, Antimitochondrial antibody positivity, Pericarditis, Hep... |
ORPHA:781 |
Gamma-Heavy Chain Disease |
|
Anemia, Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune he... |
ORPHA:100026 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Disseminated molluscum contagiosum, Bronchiectasis, Decreased circulating total IgM, Ulcerative c... |
OMIM:617638 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Congenital thrombocytopenia, Acute kidney injury, Increased circulating fe... |
OMIM:618886 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Elevated circula... |
OMIM:614455 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... |
OMIM:619374 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Autoimmunity, Hematuria, Rheumatoid factor positive, Thrombocytopenia, Leukocytosis, Anti... |
ORPHA:90060 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Cytopl... |
ORPHA:449400 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Nephrotic syndrome, Abnormal... |
ORPHA:91139 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent skin infections, Psoriasiform dermatitis, Erythroderma |
OMIM:615508 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Autoimmunity, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Decreased circulating IgA ... |
OMIM:215250 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Splenomegaly |
ORPHA:100025 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Pruritus, Eczema |
OMIM:254400 |
Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis |
OMIM:121270 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Seborrheic dermatitis, Acne |
OMIM:614441 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... |
ORPHA:839 |
Galactosemia Iii |
|
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Sup... |
ORPHA:284426 |
Felty Syndrome |
|
Anemia, Rhinitis, Recurrent urinary tract infections, Arthritis, Synovitis, Autoimmunity, Pericar... |
ORPHA:47612 |
Legionnaires Disease |
|
Endocarditis, Infectious encephalitis, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia,... |
ORPHA:549 |
Harderoporphyria |
|
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Increased c... |
OMIM:618892 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Enterocolitis, Reduced natural killer cell activity, S... |
OMIM:616050 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Anem... |
ORPHA:64743 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, H... |
OMIM:226990 |
Biotinidase Deficiency |
|
Conjunctivitis, Skin rash, Organic aciduria, Hepatomegaly, Recurrent skin infections, Splenomegal... |
OMIM:253260 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Pancolitis, Enterocolitis, Perianal abscess, Folliculitis |
OMIM:612567 |
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, Decreased... |
OMIM:102700 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinusitis, Recurrent o... |
OMIM:618282 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Peritonitis, Minimal ... |
ORPHA:567548 |
Thymic Tumor |
|
Neoplasm of the thymus, Autoimmunity, Pericarditis, Mediastinal lymphadenopathy, Dysgammaglobulin... |
ORPHA:100100 |
Ichthyosis With Confetti |
|
Pruritus, Erythroderma |
OMIM:609165 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Generalized aminoaciduria, Hepatomegaly |
ORPHA:882 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Pruritus, Renal tubular acidosis, Glycosuria, Jaundice, Nephropathy, Giant cell he... |
OMIM:613404 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly, Abnormal lymphocyte mor... |
ORPHA:2584 |
Neuraminidase Deficiency |
|
Ascites, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptid... |
OMIM:256550 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Autoimmunity,... |
ORPHA:169079 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... |
OMIM:619164 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Skin rash, Lymphopenia, Lupus anticoagulant, Colitis, Thrombocytopenia, Antinuc... |
OMIM:616744 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating total IgM, T lymphocytopenia, B lymphocytopenia, Lack of T cell function, D... |
ORPHA:35078 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Erythroderma |
OMIM:602540 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased... |
ORPHA:183675 |
Gaucher Disease Type 1 |
|
Leukopenia, Cirrhosis, Anemia, Increased circulating antibody level, Hypersplenism, Hematuria, Pa... |
ORPHA:77259 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Cutaneous abscess... |
ORPHA:555905 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Elevated urine mevalonic acid level, Chronic oral candidiasis, Renal angiomyolipom... |
OMIM:260920 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Abnormal lymph node morphology, Anemia, Rena... |
ORPHA:85450 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Spondyloenchondrodysplasia |
|
Juvenile rheumatoid arthritis, Hepatitis, Skin rash, Arthritis, Hematuria, Autoimmunity, Pancytop... |
ORPHA:1855 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Pruritus, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia, Perianal abscess |
OMIM:619437 |
Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Elevated circulating creatine kinase concentration, Low-mole... |
OMIM:300555 |
Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin level, Increas... |
ORPHA:48435 |
Adult-Onset Still Disease |
|
Hepatitis, Skin rash, Arthritis, Neutrophilia, Generalized lymphadenopathy, Pericarditis, Bone ma... |
ORPHA:829 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly |
ORPHA:417 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Decreased circulating an... |
OMIM:618108 |
Thymic Aplasia |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Recurrent urinary t... |
ORPHA:83471 |
Letterer-Siwe Disease |
|
Anemia, Jaundice, Stomatitis, Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Seborrheic derma... |
OMIM:246400 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Int... |
OMIM:614377 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Mal De Meleda |
|
Superficial dermal perivascular inflammatory infiltrate, Inflammatory abnormality of the skin |
ORPHA:87503 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Skin rash, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary color, Systemic lupus eryt... |
ORPHA:90036 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Anemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segme... |
OMIM:613092 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Cytopl... |
ORPHA:93126 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Acholic stools, Portal fibrosis, Hepatomegaly, Pruritus, Splenomegaly, Hypoalbuminemia |
OMIM:619868 |
Lamellar Ichthyosis |
|
Renal insufficiency, Pruritus, Chronic otitis media, Erythroderma |
ORPHA:313 |
Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Chronic oral candidiasis, Autoimmunity, Decreased circul... |
OMIM:615758 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Chilblains, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Increased circulating antibody leve... |
ORPHA:507 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hemolytic anemia, Proteinuria, Normochromic anemia |
OMIM:245900 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced serum alpha-1-antitrypsin, Bronchiectasis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis |
OMIM:104570 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma |
OMIM:604777 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Cirrhosis, Decreased circulating ceruloplasmin concentration, Erythroderma, Hypoa... |
OMIM:242150 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Arthritis, Neutrophilic infiltration of the skin, Autoimmun... |
OMIM:301054 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly |
OMIM:607685 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Anemia, Neutropenia, Stage 5 chronic kidney disease, Minimal change ... |
ORPHA:1830 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Decreased proportion of class-switched memo... |
OMIM:617765 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur... |
OMIM:150550 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Pyoderma, Abnormally low T cell receptor excision circle level... |
OMIM:242700 |
Juvenile Idiopathic Arthritis |
|
Skin rash, Arthritis, Autoimmunity, Uveitis, Mediastinal lymphadenopathy, Hepatomegaly, Psoriasif... |
ORPHA:92 |
Roifman Syndrome |
|
Decreased T cell activation, Decreased circulating antibody level, Eczema, Recurrent otitis media... |
ORPHA:353298 |
Brachydactylous Dwarfism, Mseleni Type |
|
Hip osteoarthritis, Autoimmunity, Osteoarthritis of the elbow, Increased inflammatory response, K... |
ORPHA:2619 |
Malakoplakia |
|
Pruritus, Inflammatory abnormality of the skin, Dysuria, Urinary urgency, Skin rash, Hematuria, U... |
ORPHA:556 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Boutonneuse Fever |
|
Leukopenia, Skin rash, Lymphadenopathy, Thrombocytopenia, Increased circulating IgM level, Cervic... |
ORPHA:83313 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Autoimmunity |
OMIM:612227 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Cutaneous abs... |
OMIM:619752 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Cinca Syndrome |
|
Anemia, Skin rash, Arthritis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating ... |
OMIM:607115 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Reticulocytosis, Thrombocytope... |
ORPHA:54057 |
Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... |
ORPHA:443811 |
Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:834 |
Felty Syndrome |
|
Neutropenia, Splenomegaly, Rheumatoid arthritis |
OMIM:134750 |
Lcat Deficiency |
|
Renal insufficiency, Hemolytic anemia, Acute kidney injury, Stage 5 chronic kidney disease, Decre... |
ORPHA:650 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Hepatic steatosis, Pericarditis, Hepatomegaly, Hepatic fibrosis, Stage 5 chro... |
OMIM:619487 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Decreased circulating total IgM, Increased proportion of gamma-delt... |
OMIM:619774 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Hepatocellular carcinoma, Portal fibrosis... |
ORPHA:369 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma |
OMIM:615023 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Megaloblastic anemia |
OMIM:618882 |
Myh9-Related Disease |
|
Renal insufficiency, Nephritis, Nephropathy, Proteinuria, Giant platelets, Congenital thrombocyto... |
ORPHA:182050 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Glomerulopathy, Endocarditis, Skin rash, Arthritis, Hematuria, Auto... |
ORPHA:183 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... |
OMIM:600802 |
Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... |
OMIM:243700 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Biliary cirrhosis, Enlarged polycystic ovaries, Glycosuria, Skin rash, Autoimmunity, ... |
ORPHA:2298 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
Majeed Syndrome |
|
Osteomyelitis, Inflammatory abnormality of the skin, Skin rash, Erythroid hyperplasia, Hepatosple... |
OMIM:609628 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Megaloblastic anemia, Microscopic hematuria |
OMIM:261100 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Acne |
OMIM:167100 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sc... |
ORPHA:562639 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Leukopenia, Anemia, Neutropenia, Nephrotic syndrome, Enlarged kidney, Neph... |
OMIM:617303 |
Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
Classic Hodgkin Lymphoma |
|
Skin rash, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Pruritus, Splenomegaly |
ORPHA:391 |
Pfapa Syndrome |
|
Arthritis, Lymphadenopathy, Hepatomegaly, Infectious encephalitis, Splenomegaly |
ORPHA:42642 |
Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Erysipelas, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly |
OMIM:214900 |
American Trypanosomiasis |
|
Skin rash, Autoimmune antibody positivity, Lymphadenopathy, Hepatomegaly, Infectious encephalitis... |
ORPHA:3386 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Conjunctivitis, Anemia, Increased circulating antibody level, Skin rash, Arthritis, Lymphopenia, ... |
OMIM:617591 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Recurrent skin infections, Hepatosplenomegaly, Leukocytos... |
OMIM:612840 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary... |
ORPHA:90033 |
Thymoma |
|
Rheumatoid arthritis, Decreased circulating antibody level, Anti-acetylcholine receptor antibody ... |
ORPHA:99867 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Increased circulating interferon-gam... |
ORPHA:85410 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... |
OMIM:300908 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level, Lymphopenia, Eosinophilia, Erythroderma, Hepatic cysts |
OMIM:617425 |
Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Thymoma, Biliary cirrhosis, Leukopenia, Non-caseating epithelioid c... |
ORPHA:227990 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:225 |
Familial Mediterranean Fever |
|
Nephrotic syndrome, Ascites, Skin rash, Pancreatitis, Arthritis, Erysipelas, Pericarditis, Nephro... |
ORPHA:342 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Arthritis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly |
OMIM:602390 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ... |
ORPHA:228302 |
Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Eczema, Hepatosplenomegaly, Eosinophilia, Erythroderma, Cervical lym... |
ORPHA:3260 |
Neonatal Lupus Erythematosus |
|
Malar rash, Anemia, Maculopapular exanthema, Abnormality of the liver, Neutropenia, Hemolytic ane... |
ORPHA:398124 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Autoimmunity, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome |
OMIM:618347 |
Nodular Non-Suppurative Panniculitis |
|
Inflammatory abnormality of the eye, Autoimmunity, Panniculitis, Hepatomegaly, Splenomegaly |
ORPHA:33577 |
Pemphigus Erythematosus |
|
Malar rash, Anti-acetylcholine receptor antibody positivity, Autoimmunity, Systemic lupus erythem... |
ORPHA:79480 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Eczema, Lupus anticoagulant, Hepatosplenomegaly, Recurrent sinusitis, Bone marrow hypocellularity... |
OMIM:615688 |
Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:612933 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:1192 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammat... |
ORPHA:48104 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Lymphopenia... |
OMIM:617575 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... |
ORPHA:79301 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Neutropenia, Recurrent urinary tract infections, Biliary tract abnormal... |
OMIM:209920 |
Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Thymoma, Biliary cirrhosis, Leukopenia, Non-caseating epithelioid c... |
ORPHA:227982 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Elevated circul... |
OMIM:616828 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diff... |
OMIM:256300 |
Systemic Sclerosis |
|
Anti-centromere antibody positivity, Osteomyelitis, Pruritus, Acute kidney injury, Abnormality of... |
ORPHA:90291 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Panniculitis, Splenomegaly |
OMIM:619183 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Autoimmunity, Eczema |
ORPHA:703 |
Good Syndrome |
|
Thymoma, Anemia, Bronchiectasis, Decreased circulating antibody level, Aplasia/Hypoplasia of the ... |
ORPHA:169105 |
Muckle-Wells Syndrome |
|
Conjunctivitis, Anemia, Recurrent aphthous stomatitis, Nephrotic syndrome, Skin rash, Arthritis, ... |
ORPHA:575 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Increased circulating ferritin concentration, Hepatomegaly, ... |
OMIM:613313 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Autoimmunity, Bone marrow hypocellularity, Leukocytosis |
ORPHA:98827 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
Harlequin Ichthyosis |
|
Erythroderma |
ORPHA:457 |
Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Skin rash, Arthritis, Keratoconjunctivitis sicca, Autoimmunity, Per... |
ORPHA:809 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Skin rash, Inflammation of the large intestine, Perinuclear antineutrophil antibod... |
OMIM:617718 |
Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Argininuria, ... |
ORPHA:470 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormality of the pancreas, Pruritus, Pruritus on foot, Skin rash, Jaundice, Autoimmunity, Palma... |
ORPHA:69665 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g... |
OMIM:613388 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Hemoglobinuria, Normocytic anemia, Jaundice, Elevated circulat... |
OMIM:611881 |
Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Acute kidney injury, Normocytic anemia, Deep dermal perivascular inflamm... |
ORPHA:49041 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... |
ORPHA:255249 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Decreased circulating antibody level,... |
ORPHA:1572 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cirrhosis, Insulin receptor antibody positivity, Anti-thyroid peroxidase antibody positivity, Ant... |
ORPHA:228426 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Pachydermoperiostosis |
|
Anemia, Osteomyelitis, Arthritis, Hepatomegaly, Eczematoid dermatitis, Splenomegaly, Seborrheic d... |
ORPHA:2796 |
Transketolase Deficiency |
|
Conjunctivitis, Increased level of ribose in urine, Uveitis, Renal cyst, Hepatomegaly, Seborrheic... |
ORPHA:488618 |
Bathing Suit Ichthyosis |
|
Erythroderma |
ORPHA:100976 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Pruritus, Splenomegaly |
OMIM:619658 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Galactosemia I |
|
Aminoaciduria, Cirrhosis, Hemolytic anemia, Galactosuria, Increased level of galactitol in urine,... |
OMIM:230400 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... |
OMIM:233710 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... |
OMIM:616217 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Prote... |
OMIM:603585 |
Microscopic Polyangiitis |
|
Glomerulopathy, Skin rash, Peritonitis, Arthritis, Autoimmunity, Hematuria, Uveitis, Pericarditis... |
ORPHA:727 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Nephroblastoma, Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatocellular... |
ORPHA:158057 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Autoimmunity, Lymphadenopathy, Chronic otitis media, Hepatomegaly, Thrombocytop... |
ORPHA:169090 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Proximal tubulopathy, Cirrhosis, Unilateral renal agenesis, Pancytopenia, Elevated circulating cr... |
OMIM:614576 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Anemia, Oroticaciduria, Abnormality of the ureter, Impaired T cell function, Oroti... |
ORPHA:30 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:2364 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Malar rash, Oligoarthritis, Pruritus, Abnormality of tumor necrosis factor ... |
ORPHA:85436 |
Griscelli Syndrome |
|
Leukopenia, Decreased circulating antibody level, Hepatitis, Jaundice, Abnormality of neutrophils... |
ORPHA:381 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocyto... |
ORPHA:2902 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Neutrophilia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, ... |
OMIM:617099 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Normocytic anemia, Abnormal spleen physiology, Autoimmune a... |
ORPHA:398063 |
Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:90158 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Anemia, Infectious encephalitis, Reduced natural killer cell activity, Skin rash, Jau... |
OMIM:603553 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Enterocolitis, Decreased circulating antibody level, Interface hepatiti... |
OMIM:243150 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine kinase, Elevated ci... |
ORPHA:368 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria |
OMIM:166300 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Skin rash, Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia o... |
OMIM:612714 |
Glycogen Storage Disease Ib |
|
Neutropenia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Gout, Inflammation of the l... |
OMIM:232220 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Scrub Typhus |
|
Renal insufficiency, Skin rash, Lymphadenopathy, Infectious encephalitis, Myocarditis, Splenomega... |