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 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... |
OMIM:613953 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... |
OMIM:617006 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmunity, Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urin... |
OMIM:618495 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... |
ORPHA:499 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an... |
ORPHA:90283 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Immunodeficiency 25 |
|
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Immunodeficiency 64 |
|
Anti-thyroid peroxidase antibody positivity, Abnormal CD4:CD8 ratio, Defective T cell proliferati... |
OMIM:618534 |
Immunodeficiency 48 |
|
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613736 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopapular exanthema, Crusti... |
ORPHA:79147 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, B lymphocytopenia, Absent tonsils, Sin... |
ORPHA:277 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus |
ORPHA:330064 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Systemic lupus erythe... |
ORPHA:90280 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Autoimmunity, Hepatomegaly, Impaired T cell function, Decreased circulating IgA l... |
OMIM:240500 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Lymphadenopathy, Systemic lupus erythematosus, Hepatitis, Recurrent otitis media, S... |
ORPHA:444463 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... |
ORPHA:69126 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Skin rash, P... |
OMIM:105200 |
Primary Membranoproliferative Glomerulonephritis |
|
C3 nephritic factor positivity, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insuffi... |
ORPHA:54370 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Hepati... |
ORPHA:169160 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... |
OMIM:613496 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... |
OMIM:607594 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:607271 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Lymphadenopathy, Abnormal renal physiology, Decreased circulating antibody level, Sp... |
ORPHA:540 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Erythroderma, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte... |
ORPHA:169154 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Eosinophilia, Neutropenia, Erythrod... |
OMIM:304790 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, T lymphocytopenia |
OMIM:608971 |
Pityriasis Rubra Pilaris |
|
Pruritus, Eczema, Erythroderma, Pustule |
ORPHA:2897 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... |
OMIM:300853 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Pneumonia, Lymphadenopathy, Salmone... |
OMIM:209950 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased circulating IgA level... |
OMIM:606367 |
Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
Ichthyosis With Confetti |
|
Erythroderma |
OMIM:609165 |
Omenn Syndrome |
|
Autoimmunity, Leukocytosis, Hepatomegaly, Erythroderma, Nephrotic syndrome, Pneumonia, Lymphadeno... |
ORPHA:39041 |
C3 Glomerulopathy |
|
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Hematuria, Stage 5 chronic kidn... |
ORPHA:329918 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... |
OMIM:618944 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Blepharitis |
OMIM:615527 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Decreased ci... |
OMIM:300635 |
Epidermolytic Hyperkeratosis |
|
Erythroderma |
OMIM:113800 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Arthritis, Acute kidney ... |
ORPHA:567544 |
Omenn Syndrome |
|
Hypoproteinemia, B lymphocytopenia, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Hypop... |
OMIM:603554 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, L... |
OMIM:616100 |
Immunodeficiency 50 |
|
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... |
OMIM:300988 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... |
OMIM:617609 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Immunodeficiency 52 |
|
Bronchiectasis, Lymphadenopathy, Coombs-positive hemolytic anemia, Increased proportion of gamma-... |
OMIM:617514 |
Immunodeficiency 15A |
|
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Cut... |
OMIM:618204 |
Sézary Syndrome |
|
Hepatomegaly, Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level, Pruritus, Abnormal ly... |
ORPHA:3162 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Autoimmunity, Hepatomegaly, Neutropenia, Decreased lymphocyte apoptosis, Leukemia, Monocytosis, S... |
OMIM:614470 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Autoimmunity, Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly, Anterior uveitis, Juveni... |
ORPHA:85414 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibody positivity |
ORPHA:90159 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis |
ORPHA:3052 |
Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... |
ORPHA:100024 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... |
OMIM:615008 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Jaundice, Absent tonsils, Lymph node hypoplasia, Re... |
ORPHA:276 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis |
OMIM:147050 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Rheumatoid factor positive, Splenomegaly, Microcytic anemia, Recur... |
OMIM:618852 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Pneumonia |
OMIM:617638 |
Tn Polyagglutination Syndrome |
|
Autoimmunity, Abnormal erythrocyte morphology |
OMIM:300622 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy, Nephrotic syndrome, Discoid lupus rash, Dark urine, Lymphopenia, Skin rash, Lupu... |
ORPHA:93552 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency |
OMIM:161900 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... |
OMIM:300400 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Thrombocytosis, Increased circulating interleukin 6, Asplenia, Ly... |
OMIM:614034 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... |
OMIM:137950 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... |
OMIM:614131 |
Acquired Partial Lipodystrophy |
|
Autoimmunity, Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Glomerulopathy, Proteinuria |
ORPHA:79087 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Insulin Autoimmune Syndrome |
|
Autoimmunity, Arthralgia/arthritis, Systemic lupus erythematosus, Autoimmune antibody positivity,... |
ORPHA:411593 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ... |
OMIM:608106 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Panhypogammaglobulinemia... |
OMIM:602450 |
Macrophage Activation Syndrome |
|
Autoimmunity, Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Hemophagocytosis, L... |
ORPHA:158061 |
Hyperprolinemia Type 1 |
|
Prolinuria, Proteinuria, Nephropathy |
ORPHA:419 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis |
OMIM:613652 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis |
OMIM:613148 |
Hypocomplementemic Urticarial Vasculitis |
|
Autoimmunity, Hepatomegaly, Episcleritis, Ascites, Lymphadenopathy, Pruritus, Hematuria, Arthriti... |
ORPHA:36412 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule |
ORPHA:346 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... |
OMIM:618394 |
Immunodeficiency 66 |
|
Recurrent skin infections, Pustule |
OMIM:618847 |
Epidermodysplasia Verruciformis |
|
Seborrheic dermatitis, Recurrent skin infections, Pustule |
ORPHA:302 |
Lymphoproliferative Syndrome 1 |
|
Autoimmunity, Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:613011 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:615573 |
Anti-Glomerular Basement Membrane Disease |
|
Autoimmunity, Hematuria, Anemia, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:375 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology |
OMIM:609529 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circu... |
OMIM:603552 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Nephritis |
OMIM:614420 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,... |
OMIM:611762 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... |
ORPHA:139402 |
Immunodeficiency 69 |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:618963 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
IgA deposition in the glomerulus, Systemic lupus erythematosus, Increased circulating antibody le... |
OMIM:178610 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly |
OMIM:206400 |
Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria |
OMIM:602079 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Pruritus, Anemia, Arthritis, Splenomegaly, Increased... |
ORPHA:37748 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid factor positive, Rheumatoid arthritis,... |
ORPHA:79099 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cell funct... |
OMIM:613179 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B ... |
OMIM:606843 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Pustule, Septic arthritis |
ORPHA:36237 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Antinuclear antibody positivity, Lymphadenopathy, Rheumatoid factor... |
ORPHA:449395 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Bronchiectasis, Osteomyelitis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... |
OMIM:608184 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmunity, Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis... |
ORPHA:331206 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:600995 |
Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Recurrent cutaneo... |
OMIM:618131 |
Netherton Syndrome |
|
Hydronephrosis, Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating... |
ORPHA:634 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... |
OMIM:616576 |
Immunodeficiency 7 |
|
Lymphadenopathy, Autoimmunity, Hypereosinophilia |
OMIM:615387 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Pruritus, Abnormal mast cell morphology, Splenomegaly, Skin rash, ... |
ORPHA:98848 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Jaundice, Cirrhosis... |
ORPHA:2137 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sinusitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
Isolated Agammaglobulinemia |
|
Sinusitis, Autoimmunity, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lym... |
ORPHA:229717 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Rheumatoid factor positive, Splenomeg... |
OMIM:618935 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Autoimmunity, Thrombocytosis, Macrocytic anemia, Eczema, Decreased circulating antibody level, Me... |
OMIM:617780 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... |
OMIM:618282 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Autoimmunity, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-ne... |
ORPHA:572 |
Immunodeficiency 36 |
|
Autoimmunity, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, S... |
OMIM:616005 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Pruritus, Systemic lupus erythematosus, Increased circulating antibody lev... |
ORPHA:48377 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... |
OMIM:601894 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... |
ORPHA:84090 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Anemia, Stage 5 chronic kidney disease, Hypoalbuminemia, Prot... |
OMIM:603278 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ... |
OMIM:308240 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria |
OMIM:189800 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... |
OMIM:616818 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Hepatomegaly, Eczema, Lymphadenopathy |
OMIM:615895 |
Inclusion Body Myositis |
|
Elevated circulating creatine kinase concentration, Autoimmunity |
ORPHA:611 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Nephropathy |
ORPHA:2820 |
Preeclampsia |
|
Autoimmunity, Acute kidney injury, Abnormality of the hepatic vasculature, Chronic kidney disease... |
ORPHA:275555 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Pruritus, Erythroderma, Keratitis |
ORPHA:79394 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Chronic oral candidiasis, Increased circulating IgE level, Hypereosinophilia, De... |
OMIM:212050 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral cand... |
ORPHA:275 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Leukocytosis, Hepatomegaly, Abnormal inflammatory response,... |
ORPHA:77297 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis |
OMIM:221700 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Stomatitis, Decreased circulating IgA level, Scleros... |
OMIM:308230 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Folliculitis, Enterocolitis |
OMIM:612567 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... |
OMIM:603965 |
Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... |
OMIM:615285 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Increased circulating antibody... |
OMIM:615846 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Renal insufficiency, Proteinuria, Erysipelas, Renal amyloidosis |
OMIM:134610 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria |
ORPHA:2134 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Paratracheal lymp... |
OMIM:615934 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyt... |
OMIM:615122 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circul... |
OMIM:617241 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Systemic lupus erythematosus, Renal insufficiency, Nephrotic syndrome, Membranoproliferative glom... |
OMIM:613779 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Nephrotic syndrome, Stomatitis, Lymphadenopathy, Lymphadenitis, Pneumonia, Decreased lymphocyte p... |
ORPHA:911 |
Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Conjunctivitis |
OMIM:603165 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hyp... |
OMIM:616871 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... |
OMIM:618349 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... |
ORPHA:70593 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Pemphigus Foliaceus |
|
Autoimmunity, Psoriasiform dermatitis, Erythroderma, Pustule, Pruritus, Crusting erythematous der... |
ORPHA:79481 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Leukopenia, Systemic lupus erythematosus, Nephritis, Arthritis, Ma... |
OMIM:152700 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Cystic acne, Sterile arthritis, Colitis, Acne, Arthritis, Hepatosplenomegaly, Mic... |
OMIM:604416 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma |
ORPHA:1954 |
Trichothiodystrophy 3, Photosensitive |
|
Erythroderma |
OMIM:616395 |
Acquired Ichthyosis |
|
Autoimmunity, Pruritus, Recurrent skin infections, Renal insufficiency |
ORPHA:454 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... |
OMIM:267500 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Antinuclear antibody positivity, Skin rash |
OMIM:618795 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Skin rash |
OMIM:618048 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... |
ORPHA:169079 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Systemic lupus erythematosus, Anemia, Splenomegaly, Crusting erythematous d... |
OMIM:170100 |
Eosinophilopenia |
|
Autoimmunity, Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
Elastoderma |
|
Eczema, Erysipelas |
ORPHA:228240 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Punctate keratitis |
OMIM:602540 |
Immunodeficiency 17 |
|
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... |
OMIM:615607 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... |
OMIM:613237 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:656 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Thrombocytopenia, Elevated circulating creatine kinase concentration, Hematuria, An... |
ORPHA:231111 |
Linear Iga Dermatosis |
|
Renal neoplasm, Autoimmunity, Inflammation of the large intestine, Pruritus |
ORPHA:46488 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Autoimmunity, Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Selective Igm Deficiency |
|
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Ly... |
ORPHA:331235 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmunity, Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibod... |
OMIM:615952 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... |
OMIM:614700 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportio... |
OMIM:614493 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Hepatomegaly, Erythroderma, Lymphadenopathy, Pruritus, Abnormality of ... |
ORPHA:79456 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... |
OMIM:617388 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmunity, B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutro... |
ORPHA:231154 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Arthritis, Sple... |
ORPHA:91138 |
Q Fever |
|
Myocarditis, Lymphadenopathy, Hepatitis, Rheumatoid factor positive, Splenomegaly, Hepatosplenome... |
ORPHA:781 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Autoimmunity, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, ... |
ORPHA:47 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Netherton Syndrome |
|
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Increased circulating IgE level... |
OMIM:256500 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:610725 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Decreased prealbumin level, Eczema, Tu... |
ORPHA:37042 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma |
ORPHA:312 |
Tularemia |
|
Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Pneumonia, Lymphadenopathy, Anemia, ... |
ORPHA:3392 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... |
OMIM:619374 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Autoimmunity, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color |
ORPHA:56425 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Corneodermatoosseous Syndrome |
|
Erythroderma |
OMIM:122440 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, R... |
ORPHA:3261 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:608709 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Abnormal renal physiology, Systemic lupus erythematosus, Arthritis, Malar rash, Ant... |
OMIM:609939 |
Igg4-Related Aortitis |
|
Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... |
ORPHA:449400 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Pruritus |
OMIM:254400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema |
OMIM:613960 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... |
OMIM:194380 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... |
OMIM:614196 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Chronic lymphatic leukemia, Pericarditis, Nephrotic syndrome, Monoclonal immunog... |
ORPHA:91139 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... |
OMIM:153640 |
Diffuse Alveolar Hemorrhage |
|
Autoimmunity, Leukocytosis, Antineutrophil antibody positivity, Hematuria, Anemia, Rheumatoid fac... |
ORPHA:90060 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Incre... |
OMIM:618892 |
Thymic Tumor |
|
Autoimmunity, Pericarditis, Mediastinal lymphadenopathy, Neoplasm of the thymus, Dysgammaglobulin... |
ORPHA:100100 |
Gamma-Heavy Chain Disease |
|
Autoimmunity, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... |
ORPHA:100026 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Cardiomegaly, Anemia, Increased circulating ferritin concentration, ... |
OMIM:618886 |
Immunodeficiency 31C |
|
Autoimmunity, Eczema, Chronic mucocutaneous candidiasis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:614162 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Rheumatoid factor... |
OMIM:619632 |
Felty Syndrome |
|
Sinusitis, Autoimmunity, Hepatomegaly, Neutropenia, Pericarditis, Episcleritis, Synovitis, Lympha... |
ORPHA:47612 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia |
ORPHA:100025 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Thrombocytop... |
OMIM:254900 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma |
OMIM:604777 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Erythroderma |
OMIM:615508 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Macronodular cirrhosis, De... |
OMIM:215250 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... |
OMIM:611555 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... |
OMIM:615244 |
Legionnaires Disease |
|
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Lymphadenopathy, Hematuria, Hep... |
ORPHA:549 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Seborrheic dermatitis, Acne |
OMIM:614441 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Eczema, Lymphadenopathy, Pruritus, Abnormal lymphocyte morphology, Splenomegaly, Sk... |
ORPHA:2584 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Colitis, Anterior uveitis, Lymphopenia, Skin rash, Lupus anticoagulant, Hemolyt... |
OMIM:616744 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... |
ORPHA:284426 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating ... |
ORPHA:183675 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Reduced natural killer cell activity, Anemia, Splenomegaly, Increased circulating ... |
OMIM:616050 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Anticardiolipin IgM antibody positivity, Leukopenia, Pruritus,... |
ORPHA:64743 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... |
OMIM:614817 |
Immunodeficiency 76 |
|
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, T ly... |
OMIM:619164 |
Porphyria Cutanea Tarda, Type I |
|
Eczema, Porphyrinuria, Hepatic fibrosis |
OMIM:176090 |
Spondyloenchondrodysplasia |
|
Autoimmunity, Pancytopenia, Pneumonia, Hematuria, Systemic lupus erythematosus, Hepatitis, Arthri... |
ORPHA:1855 |
Hyper-Igd Syndrome |
|
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic oral candi... |
OMIM:260920 |
Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Low-m... |
OMIM:300555 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... |
ORPHA:839 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, Lack of T... |
ORPHA:35078 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of the skin, Autoim... |
ORPHA:555905 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly |
ORPHA:86893 |
Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of sialy... |
OMIM:256550 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, Osteoarthritis, Anemia, ... |
ORPHA:77259 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmunity, Systemic lupus erythematosus, Skin rash, Abnormal urinary color, Autoimmune hemolyt... |
ORPHA:90036 |
Biotinidase Deficiency |
|
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Recurrent skin infections, Skin rash, Organic ... |
OMIM:253260 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndrome, Lymphadeno... |
ORPHA:85450 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Increased circulating Ig... |
ORPHA:48435 |
Reticular Dysgenesis |
|
Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash, Aplasi... |
ORPHA:33355 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Pruritus, Hepatitis, Bone marrow hypocellu... |
ORPHA:829 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... |
OMIM:301054 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate |
ORPHA:87503 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Immunodeficiency 32B |
|
Sinusitis, Bronchiectasis, Pneumonia, Splenomegaly |
OMIM:226990 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu... |
OMIM:242700 |
Thymic Aplasia |
|
Sinusitis, Autoimmunity, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia,... |
ORPHA:83471 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage mo... |
ORPHA:507 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Antinuclear antibody positivity, Decreased g... |
ORPHA:93126 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... |
OMIM:618108 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... |
OMIM:619155 |
Letterer-Siwe Disease |
|
Neutropenia, Stomatitis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jau... |
OMIM:246400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... |
OMIM:102700 |
Lamellar Ichthyosis |
|
Chronic otitis media, Pruritus, Erythroderma, Renal insufficiency |
ORPHA:313 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... |
OMIM:617765 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Pruritus, Splenomegaly, Myeloproliferative disorder, Eosinophilia |
OMIM:607685 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia, Proteinuria, Renal insufficiency |
OMIM:245900 |
Juvenile Idiopathic Arthritis |
|
Autoimmunity, Hepatomegaly, Psoriasiform dermatitis, Mediastinal lymphadenopathy, Arthritis, Sple... |
ORPHA:92 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... |
OMIM:615234 |
Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Autoimmunity |
OMIM:612227 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Autoimmunity, Inflammation of the large intestine, Lymphadenopathy, Decreased circul... |
ORPHA:2442 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinop... |
OMIM:607115 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis |
OMIM:104570 |
Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ma... |
ORPHA:83313 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... |
ORPHA:2585 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary urgency, Urinary hesi... |
ORPHA:556 |
Schimke Immuno-Osseous Dysplasia |
|
Autoimmunity, Focal segmental glomerulosclerosis, Decreased proportion of naive CD8 T cells, Neut... |
ORPHA:1830 |
Pgm3-Cdg |
|
Autoimmunity, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic ... |
ORPHA:443811 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Erythroderma, Conjunctivitis |
OMIM:242150 |
Aicardi-Goutieres Syndrome 9 |
|
Micropenis, Hepatosplenomegaly, Acute pancreatitis, Portal hypertension, Hemolytic anemia, Perica... |
OMIM:619487 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Chronic ... |
OMIM:150550 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... |
ORPHA:54057 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Myoglobinuria, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis |
OMIM:121270 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, M... |
OMIM:609628 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... |
ORPHA:562639 |
Lcat Deficiency |
|
Hemolytic anemia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kid... |
ORPHA:650 |
Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Leukopenia, Pneumonia, Increased circulating IgA level, Enlarged ovaries, Osteoarth... |
ORPHA:2298 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Glycogen Storage Disease V |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine |
OMIM:232600 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic s... |
OMIM:617303 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
Poikiloderma With Neutropenia |
|
Neutropenia, Elevated circulating creatine kinase concentration, Recurrent otitis media, Splenome... |
OMIM:604173 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Autoimmunity, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Hemat... |
ORPHA:183 |
Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Erysipelas, Jaundice |
OMIM:214900 |
Pfapa Syndrome |
|
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Splenomegaly |
ORPHA:42642 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... |
ORPHA:369 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly |
ORPHA:98293 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Megaloblastic anemia |
OMIM:618882 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Rheumatoid arthritis, Uveitis, Abnormal serum ... |
ORPHA:85410 |
Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmunity, Chronic lymphatic leukemia, Systemic lupus erythematosus, Splenomegaly, Jaundice, A... |
ORPHA:90033 |
American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Autoimmune ant... |
ORPHA:3386 |
Thymoma |
|
Autoimmunity, Abnormal lymphocyte proliferation, Imbalanced hemoglobin synthesis, Anti-acetylchol... |
ORPHA:99867 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... |
OMIM:600802 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... |
ORPHA:182050 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Pruritus, Bone marrow hypocellularity, Splenomegaly, Skin rash |
ORPHA:391 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Acne |
OMIM:167100 |
Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Th... |
OMIM:618116 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Anemia, Arthritis, Splenomegaly... |
OMIM:617591 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Erythroderma, Hepatic cysts, Decreased circulating antibody level, Lymphopenia, Eosinophilia |
OMIM:617425 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Autoimmunity, Macrocytic anemia, Tubulointerstitial nephritis, Leukop... |
ORPHA:227990 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Heinz b... |
OMIM:300908 |
Glycogen Storage Disease X |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... |
OMIM:301006 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Arthritis, Splenomegaly, Cirrhosis, Increased circulating ferritin concentration |
OMIM:602390 |
Autoimmune Hemolytic Anemia |
|
Autoimmunity, Splenomegaly, Abnormal urinary color, Hemolytic anemia, Abnormal leukocyte morphology |
ORPHA:98375 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Hypoalbuminemia |
OMIM:618347 |
Familial Mediterranean Fever |
|
Pericarditis, Nephrotic syndrome, Nephrocalcinosis, Lymphadenopathy, Ascites, Peritonitis, Osteoa... |
ORPHA:342 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:225 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Aa Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d... |
ORPHA:85445 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Eczema, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Hepatosplenomegaly, ... |
OMIM:615688 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Autoimmune antibody po... |
ORPHA:398124 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Autoimmunity |
ORPHA:163703 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Neutropenia, Infectious encephalitis, Colitis, Cutaneous anergy,... |
OMIM:209920 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmunity, Psoriasiform dermatitis, Interface hepatitis, Hypoplasia of the thymus, Abnormal ab... |
OMIM:243150 |
Pemphigus Erythematosus |
|
Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Mala... |
ORPHA:79480 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Eczema, Portal fibrosis, Splenomegaly, Hepatosplenomegaly, Eosinophilia, Inflammator... |
ORPHA:3260 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
Bullous Pemphigoid |
|
Autoimmunity, Eczema, Psoriasiform dermatitis |
ORPHA:703 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Megaloblastic anemia |
OMIM:261100 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Pruritus, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary trac... |
ORPHA:79301 |
Nodular Non-Suppurative Panniculitis |
|
Autoimmunity, Hepatomegaly, Panniculitis, Splenomegaly, Inflammatory abnormality of the eye |
ORPHA:33577 |
Wilson Disease |
|
Hemolytic anemia, Hyperphosphaturia, Hepatomegaly, Renal tubular dysfunction, Aminoaciduria, Hepa... |
OMIM:277900 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Decreased circulating cerulopla... |
OMIM:616828 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Hypoproteinemia, Congenital nephrotic syndrome, Glomerular sclerosis, Hypo... |
OMIM:256300 |
Good Syndrome |
|
Sinusitis, Mediastinal lymphadenopathy, Bronchiectasis, Decreased circulating antibody level, Ane... |
ORPHA:169105 |
Glycogen Storage Disease Xi |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma |
OMIM:609180 |
Mixed Connective Tissue Disease |
|
Myocarditis, Autoimmunity, Hepatomegaly, Keratoconjunctivitis sicca, Mediastinal lymphadenopathy,... |
ORPHA:809 |
Unclassified Myelodysplastic Syndrome |
|
Autoimmunity, Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia |
ORPHA:98827 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Increased circulating ferritin c... |
OMIM:613313 |
Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Autoimmunity, Macrocytic anemia, Tubulointerstitial nephritis, Leukop... |
ORPHA:227982 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating creatine kinase concentration, ... |
ORPHA:228302 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:1192 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Anti-glutamic acid decarboxylase antib... |
ORPHA:228426 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... |
OMIM:187950 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema |
OMIM:617443 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Renal insufficiency, Nephropathy |
OMIM:166300 |
Systemic Sclerosis |
|
Myocarditis, Pericarditis, Elevated circulating creatine kinase concentration, Antinuclear antibo... |
ORPHA:90291 |
Galactosemia I |
|
Hepatomegaly, Aminoaciduria, Increased level of galactitol in urine, Cirrhosis, Albuminuria, Gala... |
OMIM:230400 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... |
OMIM:203780 |
Transketolase Deficiency |
|
Hepatomegaly, Seborrheic dermatitis, Renal cyst, Uveitis, Increased level of ribose in urine, Con... |
ORPHA:488618 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Episcleritis, Nephrotic syndrome, Anemia, Arthritis, Splenomegaly, Uveitis, Skin ra... |
ORPHA:575 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Eczema, Minimal change glomerulonephri... |
OMIM:618348 |
Harlequin Ichthyosis |
|
Erythroderma |
ORPHA:457 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome |
OMIM:614650 |
Glycogen Storage Disease, Type Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
Common Variable Immunodeficiency |
|
Pneumonia, Bronchiectasis, Lymphadenopathy, Chronic otitis media, Decreased circulating antibody ... |
ORPHA:1572 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... |
ORPHA:470 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... |
ORPHA:49041 |
Bathing Suit Ichthyosis |
|
Erythroderma |
ORPHA:100976 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... |
OMIM:617575 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:617731 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Autoimmunity, Hepatomegaly, Pneumonia, Lymphadenopathy, Chronic otitis media, Splenomegaly, Throm... |
ORPHA:169090 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Pruritus, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:619658 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria |
ORPHA:834 |
Microscopic Polyangiitis |
|
Sinusitis, Autoimmunity, Pericarditis, Episcleritis, Peritonitis, Hematuria, Pancreatitis, Arthri... |
ORPHA:727 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis |
ORPHA:399180 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Hemophagocytosis, Neutropenia, Hepatocellular carcinoma, Abnormal r... |
ORPHA:158057 |
Myasthenia Gravis |
|
Anti-acetylcholine receptor antibody positivity, Myositis, Systemic lupus erythematosus, Hepatiti... |
ORPHA:589 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... |
OMIM:233710 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia... |
ORPHA:2902 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... |
OMIM:600903 |
Pachydermoperiostosis |
|
Hepatomegaly, Eczematoid dermatitis, Seborrheic dermatitis, Anemia, Arthritis, Acne, Osteomyeliti... |
ORPHA:2796 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... |
OMIM:134600 |
Griscelli Syndrome |
|
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Decreased circulating antibody level, Bone ma... |
ORPHA:381 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Hypoproteinemia, Macrocytic anemia, Normocytic anemia, Iron... |
ORPHA:398063 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Dermatitis Herpetiformis |
|
Autoimmunity, Eczema, Microcytic anemia, Pruritus |
ORPHA:1656 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Increa... |
ORPHA:766 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria |
OMIM:615605 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus |
ORPHA:90158 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Hereditary Orotic Aciduria |
|
Abnormality of the ureter, Oroticaciduria, Impaired T cell function, Anemia, Orotic acid crystall... |
ORPHA:30 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Inflammation of the large intestine, Pancytopenia, Impaired T cell function, Elevat... |
OMIM:614576 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
Scrub Typhus |
|
Myocarditis, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Anterior uveitis, Skin rash,... |
ORPHA:83317 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... |
OMIM:242900 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Autoimmunity, Psoriasiform dermatitis, Oligoarthritis, Pruritus, Sacroiliac arthritis, Anterior u... |
ORPHA:85436 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Seborrheic dermatitis, Hyperglycinuria, Organic aciduria, Ketonuria |
OMIM:210210 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hepatomegaly, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:616026 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Anemia |
ORPHA:2668 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Autoimmunity, Hydronephrosis, Pericarditis, Prostatitis, Chronic otitis media, Hematur... |
ORPHA:900 |
Melkersson-Rosenthal Syndrome |
|
Oligosacchariduria, Cheilitis, Lymphadenopathy, Inflammatory abnormality of the skin |
ORPHA:2483 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... |
|