Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Autoimmunity, Micro... |
ORPHA:567544 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocy... |
OMIM:617006 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage... |
OMIM:613496 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Alopecia, Elevated circulati... |
OMIM:615559 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Autoimmunity, Proteinuria, Mesangial hyp... |
ORPHA:329918 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... |
OMIM:614420 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat... |
ORPHA:3261 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Generalized li... |
ORPHA:79086 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Progressive... |
OMIM:608709 |
Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:608068 |
Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections, Autoimmunity, Pruritus, Erythema, Hyperkeratosis,... |
ORPHA:454 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... |
ORPHA:2137 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Skin rash, Eczema, Elevated c... |
OMIM:615688 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... |
OMIM:613779 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Systemic lupus erythe... |
ORPHA:498359 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Lipodystrophy, Hyper... |
OMIM:617591 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... |
ORPHA:3243 |
Immunodeficiency 22 |
|
Pericarditis, Autoimmunity, Decreased circulating total IgM, Panniculitis, Decreased circulating ... |
OMIM:615758 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ... |
OMIM:300635 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an... |
OMIM:616414 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Autoimmunity, Splenomegaly, Erythema, Panniculitis, Inflammatory abnormality of the... |
ORPHA:33577 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Complement Component 4A Deficiency |
|
Purpura, Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
Netherton Syndrome |
|
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal ... |
ORPHA:634 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Scaling skin, Elevated hepatic iron concentration, ... |
ORPHA:101330 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin... |
ORPHA:37042 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro... |
OMIM:613913 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:444463 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Erythema,... |
OMIM:619183 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concentration, Increased circul... |
OMIM:617099 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Death in infancy, Renal insufficiency, Membranoproliferative glomeruloneph... |
OMIM:619644 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, S... |
OMIM:619375 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super... |
ORPHA:284426 |
Ulerythema Ophryogenesis |
|
Acne, Miscarriage, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C... |
ORPHA:3406 |
Systemic Lupus Erythematosus |
|
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... |
OMIM:152700 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Abn... |
ORPHA:228119 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Increased circulating IgE leve... |
OMIM:304790 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Anti-thyroid p... |
ORPHA:49041 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Pruritu... |
OMIM:620010 |
Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... |
ORPHA:228123 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Death in infancy, Hypoalbuminemia, Ichthyosis, Dry skin |
ORPHA:1954 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Autoimmunit... |
ORPHA:47 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Scleroderma, Inflammatory abnormality of the skin |
ORPHA:140933 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Hepatomegaly, Proteinuria,... |
OMIM:613404 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Acral ulceration, Alopec... |
ORPHA:90291 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu... |
OMIM:613953 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Recurrent pneumonia, Increased circ... |
OMIM:610163 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Abnormal ... |
ORPHA:90159 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... |
ORPHA:91139 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Abnormal hair morphology, Recurrent skin infections, Cellulitis |
ORPHA:345 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, Chilblains, Pro... |
OMIM:619858 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos... |
ORPHA:79503 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Say-Barber-Miller Syndrome |
|
Eczema, Highly arched eyebrow, Abnormality of the hairline, Erythema nodosum, Sparse eyebrow, Cry... |
ORPHA:3132 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
Lamellar Ichthyosis |
|
Renal insufficiency, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Sparse hair, ... |
ORPHA:313 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin... |
ORPHA:48435 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Autoimmunity, Pneumonia, Pruritus, Thickened skin, Splenomegaly, Thyroidi... |
ORPHA:39041 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Congenital bullou... |
ORPHA:312 |
Bathing Suit Ichthyosis |
|
Alopecia, Multiple joint contractures, Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis... |
ORPHA:100976 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Lipoatrophy, Autoimmunity, Proteinuria, Microscopic hematuria, Hepatic steatosis,... |
ORPHA:79087 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... |
ORPHA:93126 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... |
ORPHA:449395 |
Chilblain Lupus 1 |
|
Antinuclear antibody positivity, Chilblains, Skin ulcer |
OMIM:610448 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Lipoatrophy, Autoimmunity, ... |
ORPHA:51 |
Thymoma |
|
Myositis, Glomerulonephritis, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyt... |
ORPHA:99867 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, H... |
OMIM:615508 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity |
OMIM:216950 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Au... |
ORPHA:99931 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... |
OMIM:618348 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Autoimmunity, Acantholysis, Pruritus, Pustule, Crusting erythematous der... |
ORPHA:79481 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... |
ORPHA:36234 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:242150 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Skin ulcer, Hepatosplenomegaly |
ORPHA:86884 |
Netherton Syndrome |
|
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Allergic rhinitis, Ecz... |
OMIM:256500 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Allergic rhinitis, Absent facial h... |
ORPHA:90368 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Subacute Cutaneous Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Psoriasiform lesion, Anti-histo... |
ORPHA:163525 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria |
ORPHA:419 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Palmoplantar kerat... |
ORPHA:3162 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Hyperimidodi... |
OMIM:170100 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Hyperker... |
ORPHA:2584 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... |
ORPHA:562639 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated ci... |
OMIM:614376 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Increased circulating IgG level, Chronic otitis media, Membranoprolif... |
ORPHA:443811 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Preeclampsia |
|
Elevated hepatic transaminase, Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidn... |
ORPHA:275555 |
Q Fever |
|
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti... |
ORPHA:781 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Ichthyosis, Congenital... |
OMIM:242300 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Hypoalbuminemia, Death in infancy |
OMIM:227090 |
Immunodeficiency 58 |
|
Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ... |
OMIM:618131 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Increase... |
ORPHA:169160 |
Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Recurrent urinary tract infections, Skin rash, Abnormal dental enamel morphology, Pr... |
ORPHA:1334 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... |
OMIM:620321 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Acu... |
ORPHA:572 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ... |
OMIM:612281 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Skin ulcer, Arthritis, Inc... |
ORPHA:69126 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... |
OMIM:615598 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Flexion contracture, Renal cortical cysts, Hyperkeratosis, Scaling skin, Erythr... |
OMIM:609180 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Decreased lymphocyte proliferation ... |
OMIM:606367 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Thickened skin, Leukonychia,... |
ORPHA:2526 |
Ichthyosis With Confetti |
|
Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Hypoplastic nipples, Erythroderm... |
OMIM:609165 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Allergic rhinitis, Eczema, ... |
OMIM:615816 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Brittle hair, Trichoschisis, Flexion contracture, Absence of subcutaneous fat, ... |
OMIM:601675 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal testis morphology, Abnormal hair morphology, Erythema, Patchy palmo... |
ORPHA:317 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Autoimmunity, Impaired T cell function, Minimal change glomerulonephritis, Abnormal ... |
ORPHA:1830 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Pruritus, Increased circulating IgE level, Nail dystrophy, Palmoplantar hyperhidros... |
OMIM:270300 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Claw hand deformity, Elevated circulating creatine kinase concentration, Proteinuria, Stage 5 chr... |
OMIM:614455 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Conjugated hyperbilirubine... |
OMIM:208085 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl... |
ORPHA:87503 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Purpura |
ORPHA:375 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Hypospadias, Bilateral cryptorchidism, Erythroderma, Ichthyosis, Micropenis |
OMIM:618840 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... |
ORPHA:829 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Elevated circulating creatine kina... |
OMIM:614576 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis |
ORPHA:69125 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My... |
ORPHA:139402 |
Primary Biliary Cholangitis |
|
Autoimmunity, Portal hypertension, Increased circulating IgA level, Pruritus, Antinuclear antibod... |
ORPHA:186 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Psoriasiform lesion, Autoimmune thrombocytopenia, Increased circulating IgA level, Incr... |
ORPHA:169154 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Inguinal hernia, Recurrent urinary tract infections, Perianal abscess, Cryptorchidi... |
OMIM:612541 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Miscarriage, Female infertility |
OMIM:619176 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Nephrotic syndrome, Glomerula... |
OMIM:619428 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Kerion Celsi |
|
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... |
OMIM:105200 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrit... |
OMIM:161950 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Hepatomegaly, Dysgammaglobulinemia, Impaired Ig class switch rec... |
OMIM:308230 |
Epidermolytic Hyperkeratosis 1 |
|
Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkeratosis, Erythro... |
OMIM:113800 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Atrophic scars, Dystrophic toenail |
ORPHA:89838 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Panniculitis, Eczema, Dry skin |
ORPHA:508542 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Alo... |
OMIM:608649 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Myositis, Antiphospholipid antibody positivity, Skin rash, Alopecia, Renal insufficie... |
ORPHA:93552 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma |
OMIM:615022 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Membranoproliferative glomerulonep... |
OMIM:137940 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Pruritus, Hypohidrosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma |
ORPHA:79394 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... |
ORPHA:33110 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Hepatomegaly, Splenomegaly, Sk... |
ORPHA:91138 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism |
ORPHA:2812 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Dent Disease 2 |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... |
OMIM:300555 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Premature ovarian insufficiency, Absent eyelashes, Hyperkeratosis, Sparse hair, N... |
OMIM:618625 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Lichen Planopilaris |
|
Alopecia, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis |
ORPHA:525 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Skin ulcer, Arth... |
ORPHA:231 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Skin ulcer,... |
ORPHA:229717 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Increased circulating IgE level, Perioral erythema, Erythroderma, Ble... |
OMIM:614328 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Alopecia, Recurrent p... |
OMIM:616576 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Lipodystrophy |
OMIM:305800 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Proteinuria |
OMIM:189800 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulati... |
ORPHA:79303 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Cednik Syndrome |
|
Proteinuria, Diffuse palmoplantar hyperkeratosis, Nephrotic syndrome, Hypogonadism, Ichthyosis |
ORPHA:66631 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... |
OMIM:212360 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy... |
ORPHA:505 |
Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant... |
ORPHA:1855 |
Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... |
ORPHA:1304 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Reduced phenylalanine hydroxylase level, Elevated urinary phenylp... |
OMIM:261600 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Alopecia, Autoimmunity, Hypergonadotrop... |
ORPHA:227990 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, N... |
OMIM:618999 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elevated circulating C-reactive protein concentration, Elbow flexion contracture, Pyoderma ... |
OMIM:604416 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Abnorma... |
ORPHA:848 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Scarring, Antinuclear antibody positivity, Auto... |
ORPHA:90283 |
Systemic Lupus Erythematosus |
|
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody positivi... |
ORPHA:536 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Pruritus, Increased circulating IgE level, Hyperkeratosis, Atrophic scars, Nail dystrophy |
ORPHA:89843 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... |
ORPHA:411593 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis |
OMIM:615147 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Crypt... |
OMIM:617575 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Galactosemia I |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
OMIM:230400 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Alopecia, Autoimmunity, Hypergonadotrop... |
ORPHA:227982 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis, Palmoplantar hyperkeratosis, Hypohidrosis, Enamel hypoplasia, Sparse lateral eyebrow |
ORPHA:363523 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... |
ORPHA:277 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... |
OMIM:615023 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated circulating C-reactive... |
ORPHA:79099 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy |
OMIM:131850 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice... |
ORPHA:549 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Avian Influenza |
|
Elevated hepatic transaminase, Miscarriage, Pneumonia, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... |
OMIM:615895 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:614652 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem... |
ORPHA:369 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Scarring, Keratitis, Erythema, P... |
ORPHA:330058 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Autoimmunity, Portal hypertension, Hypersplenism, Anti-thyroi... |
ORPHA:228426 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... |
ORPHA:90158 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, Elevated circulatin... |
OMIM:614034 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Eczema, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... |
OMIM:619510 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Flexion contracture, Low anterior hairline, Coarse hair, Hypoalbuminemia, Macrovesicul... |
OMIM:617303 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Eczema, Cryptorchidism, Ichthyosis, Aplasia/Hypoplasia of the testes, Hernia... |
ORPHA:3055 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid facto... |
OMIM:603909 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Abnormal eyelash morphology, Silver-gray hair, Splenom... |
ORPHA:381 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Pemphigus Erythematosus |
|
Autoimmunity, Acantholysis, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody... |
ORPHA:79480 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, E... |
ORPHA:171 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc... |
OMIM:238970 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Alopecia, Chronic active ... |
OMIM:203800 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Atrophic scars, Inflammation of the large intestine, Increased cir... |
ORPHA:48104 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Death in infancy, Eczema, Elevated circulating creatine kinase concentration, I... |
OMIM:272300 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Jaundice, Hepatitis, He... |
OMIM:194380 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... |
ORPHA:727 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Skin rash, Autoimmunity, Protein... |
ORPHA:36412 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem... |
OMIM:603165 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Skin rash, Maculopapular exanthema, S... |
ORPHA:398124 |
Harlequin Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma |
ORPHA:457 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory a... |
ORPHA:816 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Neutrophilic infiltration of the skin, Skin rash, Lipodystrophy, Elevated circulating C-reactive ... |
OMIM:618048 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Death in infancy, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity... |
OMIM:243150 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Sinusitis, Pneumonia, Autoimmunity, Hypocalcemic tetany, Atyp... |
ORPHA:83471 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria |
ORPHA:225 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus eryt... |
ORPHA:90036 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Miscarriage, Abnormality of the kidney, Antinuclear antibody positivity, Systemic l... |
OMIM:609939 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Reticular Dysgenesis |
|
Chronic otitis media, Skin rash, Skin ulcer, Decreased circulating antibody level |
ORPHA:33355 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental... |
ORPHA:251004 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro... |
OMIM:209920 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Abnormal circulating lipid concentration, Skin rash, Autoimmunity, Pneumonia, Increased... |
ORPHA:2298 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Scarring, Pustule, Scarring alopecia of scalp, Abnormal hair morpholog... |
ORPHA:346 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... |
ORPHA:35173 |
Myasthenia Gravis |
|
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... |
ORPHA:589 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Absence o... |
ORPHA:90160 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Pruritus, Thickened skin, Abnormality of the spleen, Abnormality of the liver, Scal... |
ORPHA:79456 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Abnormal lactate dehydrogenase level, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic muc... |
ORPHA:98813 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Renal insufficienc... |
OMIM:619487 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Seborrheic dermatitis, Thickened skin, Hyperhidrosis, Hypoalbuminemia |
OMIM:614441 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Atrophoderma Vermiculata |
|
Pruritus, Erythema, Atrophic scars, Follicular hyperkeratosis, Hyperkeratotic papule |
ORPHA:79100 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Abnormality of the kidney, Bili... |
ORPHA:289390 |
Catastrophic Antiphospholipid Syndrome |
|
Antiphospholipid antibody positivity, Miscarriage, Abnormality of the kidney, Anticardiolipin IgG... |
ORPHA:464343 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Decreased serum iron, Chronic hepatitis, Colitis, Uncombable hair, Ci... |
OMIM:614602 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... |
ORPHA:293173 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash |
OMIM:619175 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Anuria, Protein... |
ORPHA:340 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc... |
OMIM:610199 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:614921 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
ORPHA:2364 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Decreased seru... |
ORPHA:54057 |
Prolidase Deficiency |
|
Hepatomegaly, Recurrent cystitis, Pruritus, Splenomegaly, Crusting erythematous dermatitis, Low a... |
ORPHA:742 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertri... |
OMIM:612379 |
Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... |
ORPHA:2199 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Hypoalbuminemia, Focal segmental glomerulosclerosis, Proteinuria |
OMIM:618347 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly... |
OMIM:253260 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Autoimmunity, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Camptoda... |
OMIM:613385 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Recurrent cutaneous abscess formation, Autoimmunity, Acantholysis |
ORPHA:704 |
Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Proteinuria, Anti... |
ORPHA:90060 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Rhinitis, Hypoalbuminemia,... |
ORPHA:507 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Autoimmune hemolytic ... |
ORPHA:391487 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Increa... |
OMIM:618282 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Conge... |
OMIM:302960 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Acute hyperammonemia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Hyperammonemia... |
OMIM:210210 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Autoimmunity, Lymp... |
OMIM:618495 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Autoimmunity, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchie... |
OMIM:240500 |
Bazex Syndrome |
|
Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na... |
ORPHA:166113 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... |
ORPHA:2035 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Follicular hyperkeratosis, Elevated circulating creatine kinase concentration, He... |
ORPHA:300179 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Sparse eye... |
OMIM:604173 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein conc... |
OMIM:614204 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Hepatic fibrosis, Sparse hair, Hepatomegaly, Alopecia, Portal hypertension, Sparse... |
OMIM:607626 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positive, Elevated c... |
OMIM:615934 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Keratitis, Increased circulating ... |
ORPHA:1163 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Seborrheic dermatitis, Renal cyst, Uveitis, Sec... |
ORPHA:488618 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Atrichia, Scaling skin, Death in childhood, Neonatal death, Dystrophic f... |
OMIM:308205 |
Fanconi-Bickel Syndrome |
|
Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula... |
OMIM:227810 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu... |
OMIM:308800 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Alopecia, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis,... |
ORPHA:79395 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Increased cir... |
OMIM:610768 |
Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis, Erythroderma |
OMIM:133190 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Thickened skin, Splenomegaly, Erythroderma, Hypoproteinemia |
OMIM:603554 |
Porphyria Cutanea Tarda, Type I |
|
Porphyrinuria, Hepatic fibrosis, Eczema, Hypertrichosis |
OMIM:176090 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:619155 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Glomerulopathy, Re... |
ORPHA:183 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Autoimmunity,... |
ORPHA:542643 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Ag... |
OMIM:300400 |
Congenital Enterovirus Infection |
|
Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Hypoalbuminemia, Hepatic failure,... |
ORPHA:292 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Skin ulcer, Atrophic scars, Abnormality of neutro... |
ORPHA:542592 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology |
ORPHA:222 |
Immunodeficiency 102 |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Recurrent skin infections, Parti... |
OMIM:301082 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia, Scarring |
OMIM:247100 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypohidrosis, Hyperkeratosis, Hyp... |
ORPHA:281090 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... |
OMIM:214950 |
Dowling-Degos Disease |
|
Penile freckling, Pruritus, Arthritis, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne ... |
ORPHA:79145 |
Goodpasture Syndrome |
|
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... |
OMIM:233450 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Death in infancy, Pericarditis, Premature ovarian insufficiency, P... |
OMIM:212065 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Myositis, Renal insufficiency, Recurrent myoglobinuria... |
ORPHA:99845 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Premature ovarian insufficiency, Hypercalcemia, Autoimmunity, Hyperkalemia, Hepatit... |
ORPHA:199299 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pruritus, Pustule, Erythema, Systemic lupus erythematosus, Increased circulating an... |
ORPHA:48377 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Miscarriage, Jaundice, Hepatitis, Uveitis, Hematuria, I... |
ORPHA:319251 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Gou... |
OMIM:232800 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Majeed Syndrome |
|
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Hepatomeg... |
ORPHA:77297 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, E... |
ORPHA:767 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hypohidrosis, Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:461 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... |
OMIM:300918 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hypohidros... |
OMIM:602400 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduce... |
OMIM:308240 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Menorrhagia, Nephropathy, Nephritis |
ORPHA:182050 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevate... |
OMIM:620300 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperphosphaturia, Irregular menstruation, Hepatitis, Decreased ... |
ORPHA:562 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Hypergo... |
OMIM:607426 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko... |
OMIM:616295 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Alopecia, Premature ovarian insufficiency, Female h... |
OMIM:240300 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... |
OMIM:615207 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, P... |
ORPHA:436159 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Pericarditis, Alopecia, Renal insufficiency, Chondritis of pinna, P... |
ORPHA:728 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Elevated circu... |
ORPHA:900 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Proteus Syndrome |
|
Lipoma, Multiple lipomas, Hyperkeratosis, Splenomegaly |
OMIM:176920 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse scalp hair, Death in infancy, Sparse eyelashes, Proteinuria, Sparse eyebrow, Hematuria, Tu... |
OMIM:616901 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Pericarditis, Skin rash, Autoimmunity, Alopecia, Elevated circulating creat... |
ORPHA:93672 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha... |
ORPHA:94059 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Hypogonadism |
ORPHA:2574 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Pruritus, Abnormal hair morphology, Increased circulating IgE l... |
ORPHA:2314 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hypohidrosis, Aplasia/Hypoplasia of... |
ORPHA:238468 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... |
OMIM:615821 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, ... |
ORPHA:436252 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash... |
OMIM:618549 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Inguinal hernia, Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullou... |
OMIM:614457 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Foot joint contracture, Recurrent skin infections, Glome... |
ORPHA:79408 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa... |
OMIM:615704 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Renal insufficiency, Portal hypertension, Flexion contracture, Hepatitis, Choles... |
ORPHA:440713 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Autoimmunity, Elevated circulating C-reactive protein concentrat... |
ORPHA:449400 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity... |
ORPHA:331206 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d... |
OMIM:268200 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Proteinuria, Lymphadenitis, Increased circulating ferritin concentration, Acute... |
OMIM:618886 |
Copper Deficiency, Familial Benign |
|
Curly hair, Decreased circulating copper concentration, Early balding, Seborrheic dermatitis |
OMIM:121270 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Glomerulopathy, Pustule, Erythema, Septic arthritis |
ORPHA:36237 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Proteinuria,... |
OMIM:610965 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Abnormality of the menstru... |
ORPHA:556 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Elevated circulating C-rea... |
ORPHA:85414 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Seborrheic dermatitis, Thickened skin, Hyperhidrosis, Elevated urinary prostaglandin E2 level |
OMIM:167100 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A... |
OMIM:616100 |
Lcat Deficiency |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p... |
OMIM:300755 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Multiple joint contractures, Cryptorchidism, Follicular hyperkeratosis, Dry skin, Mildly elevated... |
ORPHA:486815 |
Hypotrichosis 6 |
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Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... |
OMIM:607903 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
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Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Death in infancy, Necrotizing enterocolitis, Dicarboxylic aciduria, Hepatomegaly, Elevated circul... |
OMIM:201475 |
Pili Torti-Onychodysplasia Syndrome |
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Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Generalized keratosis follicula... |
ORPHA:2890 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple... |
OMIM:603552 |
Diffuse Cutaneous Systemic Sclerosis |
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Dyspareunia, Renal insufficiency, Autoimmunity, Flexion contracture, Oliguria, Skin ulcer, Arthritis |
ORPHA:220393 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Decreased circulating antibody level, Death in infancy, Hepatic cysts, Erythroderma |
OMIM:617425 |
Psoriasis 2 |
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Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Hypertriglyceridemia, Recurrent skin infections, Eczema, Recurrent u... |
OMIM:619802 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Increased circulating lactate dehydrogenase concentration, Autoimmunity, Eczema, Recurrent pneumo... |
OMIM:617780 |
Autosomal Dominant Polycystic Kidney Disease |
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Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Lipoid Proteinosis |
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Acne, Scarring, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp |
ORPHA:530 |
Intrahepatic Cholestasis Of Pregnancy |
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Elevated hepatic transaminase, Skin rash, Autoimmunity, Pruritus, Abnormality of the pancreas, Pr... |
ORPHA:69665 |
Werner Syndrome |
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Sparse scalp hair, Renal neoplasm, Lipoatrophy, Lipodystrophy, Miscarriage, Abnormal hair whorl, ... |
ORPHA:902 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... |
ORPHA:275 |
Agammaglobulinemia 9, Autosomal Recessive |
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Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi... |
OMIM:307200 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
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Foot osteomyelitis, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... |
OMIM:617744 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hyperhidrosi... |
ORPHA:90068 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
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Skin rash, Recurrent pneumonia, Increased circulating IgE level, Erythema, Chronic mucocutaneous ... |
OMIM:147060 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
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Urethral stricture, Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronc... |
OMIM:301220 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
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Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Hyperhidrosis, Arth... |
OMIM:259100 |
Free Sialic Acid Storage Disease |
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Hepatomegaly, Proteinuria, Splenomegaly, Skin ulcer, Nephrotic syndrome |
ORPHA:834 |
Mednik Syndrome |
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Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... |
ORPHA:171851 |
Peeling Skin Syndrome 6 |
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Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Flynn-Aird Syndrome |
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Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Neuropathy, Hereditary Sensory, Type If |
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Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
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Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Pachydermoperiostosis |
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Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Abnormal hair pattern, Seborrheic derm... |
ORPHA:2796 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Nephropathy, Nephrotic syndrome, Proteinuria, Cryptorchidism |
ORPHA:1192 |
Keratoderma Hereditarium Mutilans |
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Alopecia, Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, I... |
ORPHA:494 |
Alport Syndrome |
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Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Perianal abscess, Hemol... |
ORPHA:2968 |
Glycogen Storage Disease X |
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Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Overlap Myositis |
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Elevated hepatic transaminase, Autoimmunity, Elevated circulating creatine kinase concentration, ... |
ORPHA:206572 |
Olmsted Syndrome 1 |
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Subungual hyperkeratosis, Parakeratosis, Pruritus, Flexion contracture, Periorificial hyperkerato... |
OMIM:614594 |
Distal 16P11.2 Microdeletion Syndrome |
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Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Low anterior hair... |
ORPHA:261222 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Skin rash, Pneumonia, Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulatin... |
ORPHA:247691 |
Aicardi-Goutieres Syndrome 7 |
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Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Increased circulating ferriti... |
OMIM:615846 |
Calciphylaxis |
|
Stage 5 chronic kidney disease, Abnormality of skin physiology, Skin ulcer, Hyperphosphatemia, Ce... |
ORPHA:280062 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Hepatomegaly, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein concentration, Pu... |
OMIM:612852 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
Myoglobinuria, Autosomal Dominant |
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Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Reynolds Syndrome |
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Hepatomegaly, Skin rash, Pruritus, Jaundice, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, C... |
ORPHA:779 |
Noonan Syndrome 8 |
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Curly hair, Eczema, Cryptorchidism, Hyperkeratosis, Palmoplantar cutis laxa |
OMIM:615355 |
Vexas Syndrome |
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Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Melioidosis |
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Foot osteomyelitis, Unusual skin infection, Liver abscess, Pneumonia, Abnormality of the spleen, ... |
ORPHA:31202 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
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Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... |
OMIM:166300 |
B4Galt1-Cdg |
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Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck... |
ORPHA:79332 |
Irida Syndrome |
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Decreased circulating copper concentration, Intrahepatic cholestasis, Hyperkeratosis, Pallor, Ich... |
ORPHA:209981 |
Adenine Phosphoribosyltransferase Deficiency |
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Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... |
ORPHA:976 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R... |
ORPHA:331235 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
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Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan... |
OMIM:618535 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Sparse scalp hair, Multiple joint contractures, Brittle hair... |
ORPHA:33364 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Nephrotic range proteinuria, Dry skin, Hepatic stea... |
ORPHA:300536 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosif... |
OMIM:613576 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
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Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
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Female infertility, Amenorrhea |
OMIM:620383 |
Acquired Purpura Fulminans |
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Skin rash, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Macular p... |
ORPHA:49566 |
Dermatofibrosarcoma Protuberans |
|
Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
Nail-Patella Syndrome |
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Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Flexion contracture, Increased circulating interferon-gamma concentration, Scaling sk... |
OMIM:612952 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair, Abnormality of the kidney, Hypophosphatemia |
ORPHA:2611 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
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Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... |
OMIM:617337 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis |
ORPHA:254478 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Mpdu1-Cdg |
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Abnormal circulating enzyme concentration or activity, Eczema, Elevated circulating creatine kina... |
ORPHA:79323 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Hypogonadis... |
ORPHA:2269 |
Limited Cutaneous Systemic Sclerosis |
|
Joint contracture of the hand, Foot joint contracture, Autoimmunity, Skin ulcer |
ORPHA:220402 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Macronodular cirrhosis, Nephrotic syndrome, Mucopolysacchariduria, Decreased circula... |
OMIM:215250 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Episodic hyperhidrosis, Elevat... |
ORPHA:276621 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, ... |
OMIM:232200 |
Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Death in infancy, Progressive flexion contractures, Skin ulcer |
ORPHA:2028 |
Immunodeficiency 105 |
|
Skin rash, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total ... |
OMIM:619924 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Absent specific antibody response, Inflammatory abnormality of the s... |
OMIM:102700 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Acne, Abnormal hair morphology, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia... |
ORPHA:97362 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis, Erythema, Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Hypokalemia, Am... |
ORPHA:213 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Increased circulating antibody level, Nephro... |
ORPHA:100024 |
Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Becker Muscular Dystrophy |
|
Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria, Elevated circulating creati... |
ORPHA:98895 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... |
ORPHA:231222 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Thick hair, Heparan sulfate excretion in urine, Thickened skin, Flexion contracture,... |
ORPHA:505248 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Hype... |
OMIM:232220 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Sparse hair, Dry skin, Sparse body hair |
OMIM:224750 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Nephro... |
OMIM:616026 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Increased circulating antibody level |
ORPHA:319218 |
Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Skin rash, Proteinuria, Myocarditis, Jaundice, Hepatitis... |
ORPHA:2331 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep... |
OMIM:619685 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas... |
ORPHA:398063 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Orchitis, Pustule, Ery... |
ORPHA:761 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Pruritus, Abnormal circulating porphyrin concentration, Erythema, Decreased liver functio... |
ORPHA:79278 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Recurrent skin infections, Splenomegaly, Decrea... |
OMIM:620210 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Stuve-Wiedemann Syndrome 2 |
|
Eczema, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death |
OMIM:619751 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, Hypergranulosis, Abnormal hair morphology, Erythema, Hypohidrosis, Hyperker... |
OMIM:242100 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Elevated circulating C... |
OMIM:619381 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Skin rash, Reduced natural ki... |
OMIM:619374 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the ur... |
ORPHA:2552 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Abnormality of alkalin... |
OMIM:137920 |
Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... |
ORPHA:85443 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, Rhinitis, Periodontitis, Recurrent ap... |
ORPHA:486 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... |
OMIM:611762 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... |
OMIM:615952 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... |
ORPHA:415 |
Gaucher Disease |
|
Death in infancy, Hepatomegaly, Osteomyelitis, Proteinuria, Elevated circulating C-reactive prote... |
ORPHA:355 |
Dominant Beta-Thalassemia |
|
Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, H... |
ORPHA:231226 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis,... |
ORPHA:575 |
Juvenile Arthritis |
|
Antinuclear antibody positivity, Skin rash |
OMIM:618795 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P... |
ORPHA:347 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Splen... |
ORPHA:812 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Increased... |
ORPHA:83313 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Antisynthetase Syndrome |
|
Myositis, Skin rash, Autoimmunity, Elevated circulating creatine kinase concentration, Pruritus, ... |
ORPHA:81 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Parakerat... |
ORPHA:83617 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Elevated circulating creatine kinase ... |
OMIM:619518 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Arthritis, Conjunctivi... |
OMIM:120100 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Lupus anticoagulant |
OMIM:616744 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lipoatrophy,... |
ORPHA:90156 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperke... |
OMIM:148700 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithiasis, Splenomegaly, J... |
OMIM:611881 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar ... |
OMIM:605676 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Hypospadias, Unilateral cryptorchidism, Female infertility, Crypt... |
ORPHA:261529 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Abnormality of the bladder, Hematuria, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1839 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b... |
OMIM:607602 |
Autoinflammation With Infantile Enterocolitis |
|
Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural killer cell act... |
OMIM:616050 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hip contracture, Death in infancy, Bilateral fetal pyelectasis, Hep... |
OMIM:300868 |
Frasier Syndrome |
|
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros... |
OMIM:136680 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Abnormal immunoglobulin level, Bilateral cryptorchidism, Stage ... |
OMIM:242900 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Panhypogammaglobulinemia |
OMIM:615214 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... |
OMIM:614700 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Reduced circulating aldolase concentration, Hyperkalemia... |
ORPHA:57 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Pallor, Stomatitis |
OMIM:246400 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Unilateral renal agenesis, Glo... |
ORPHA:2260 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:620138 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Inc... |
OMIM:256550 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, E... |
ORPHA:411634 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
Bullous Pemphigoid |
|
Erythema, Psoriasiform dermatitis, Autoimmunity, Eczema |
ORPHA:703 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali... |
ORPHA:454831 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin... |
ORPHA:79259 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Myocarditis, Autoimmune ... |
ORPHA:206569 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Pruritus, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholesta... |
OMIM:619377 |
Ameloonychohypohidrotic Syndrome |
|
Hypohidrosis, Hypocalcification of dental enamel, Dry skin, Seborrheic dermatitis |
OMIM:104570 |
Immunodeficiency 69 |
|
Splenomegaly, Increased circulating ferritin concentration, Skin rash, Hepatosplenomegaly |
OMIM:618963 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Elb... |
OMIM:148210 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Takayasu Arteritis |
|
Increased inflammatory response, Skin ulcer, Hyperhidrosis, Arthritis, Inflammatory abnormality o... |
ORPHA:3287 |
Keratolytic Winter Erythema |
|
Pustule, Erythema, Hyperhidrosis |
ORPHA:50943 |
Dermatitis Herpetiformis |
|
Autoimmunity, Eczema, Pruritus, Erythema, Skin vesicle |
ORPHA:1656 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Seborrheic dermatitis, Hyperparakeratosis, Hydrocele testis, Multiple lipomas, Nephr... |
ORPHA:276280 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Eczema, Pruritus, Erythema, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... |
OMIM:613102 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Arthritis, Increased circulating IgM level |
ORPHA:37748 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Bronchiectasis, Chronic rhinitis |
OMIM:617577 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritu... |
ORPHA:3260 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney, Abnormal hair morphology, Ski... |
ORPHA:2591 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Acrogeria |
|
Excessive wrinkled skin, Lipoatrophy, Skin ulcer, Fine hair |
ORPHA:2500 |
Zygomycosis |
|
Unusual skin infection, Fasciitis, Sinusitis, Pericarditis, Gastritis, Renal insufficiency, Pustu... |
ORPHA:73263 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Joint... |
OMIM:618523 |
Hereditary Spherocytosis |
|
Hepatomegaly, Maculopapular exanthema, Splenomegaly, Jaundice, Skin ulcer, Gout, Pallor, Hyperbil... |
ORPHA:822 |
Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Splenomegaly, Hepatitis, Mucopolysacchariduria, Umbilical hernia |
ORPHA:584 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... |
OMIM:619525 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Anhidrosis, Erythema, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullo... |
OMIM:606545 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Skin rash, Miscarriage, Abnorma... |
ORPHA:330015 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Episodic hyperhidrosis, Elevat... |
ORPHA:29072 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Eczema, Systemic lupus erythematosus |
OMIM:616871 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmun... |
ORPHA:911 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis... |
OMIM:208500 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle |
ORPHA:158681 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Antinuclear antibody positivit... |
OMIM:613471 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Tubul... |
ORPHA:33001 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Atopic dermatiti... |
OMIM:619752 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem... |
OMIM:612843 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Hematuria, Increased circ... |
ORPHA:77259 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Rheumatoid factor positive, Eczema, Perianal abscess, Lymphadenitis, Splenome... |
OMIM:618935 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Dry skin, Eczema, Decreased circulating antibody level |
OMIM:618116 |
Monosomy 22 |
|
Seborrheic dermatitis, Thickened skin, Synophrys, Hyperhidrosis, Hepatosplenomegaly, Contractures... |
ORPHA:96123 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Herpes simplex enc... |
ORPHA:83597 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Skin ulcer |
ORPHA:492 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Long eyelashes, Increased circulating IgE level |
OMIM:616069 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Autoimmunity, Alopecia, Myocarditis, ... |
ORPHA:809 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act... |
OMIM:277400 |
Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin |
OMIM:613707 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Skin rash, Proteinuria, Orchitis, Splenomegaly, Osteoarthrit... |
ORPHA:342 |
Donohue Syndrome |
|
Adipose tissue loss, Long penis, Cholestasis, Hyperkeratosis, Hepatic fibrosis, Pancreatic islet-... |
OMIM:246200 |
Wiskott-Aldrich Syndrome |
|
Glomerulopathy, Sinusitis, Eczema, Autoimmunity, Abnormality of the menstrual cycle, Keratitis, S... |
ORPHA:906 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Parakeratosis, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Flexion contra... |
OMIM:308050 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... |
ORPHA:90186 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Amin... |
OMIM:220110 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Eczema, Abnormal preputium morphology, Pustule, Abnormality of the ureth... |
ORPHA:2907 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co... |
ORPHA:94093 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Foot joint contracture, Scarrin... |
ORPHA:90321 |
Lymphatic Malformation 12 |
|
Inguinal hernia, Death in adolescence, Hydrocele testis, Hyperkeratosis, Neonatal death |
OMIM:620014 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Increased circulating Ig... |
OMIM:243700 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Miscarriage, Pruritus, Arthritis, Increased circulating IgM l... |
ORPHA:448237 |
Ramon Syndrome |
|
Hyperkeratosis, Abnormal dental enamel morphology, Generalized hirsutism |
ORPHA:3019 |
Donnai-Barrow Syndrome |
|
Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Widow's peak, Umbilical hernia |
ORPHA:2143 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Episodic hyperhidrosis, Urinary incontinence, Osteomyelitis, Acral ulceration |
OMIM:613115 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Increased proportion of... |
ORPHA:98848 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Hyperammonemia, Keratoconjunctivitis, Organic aciduria, Perioral eczema |
ORPHA:79242 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Hype... |
ORPHA:509 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Chronic pancreatitis, Hyperlipide... |
OMIM:232240 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... |
ORPHA:91500 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:609015 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Psoriasiform lesion, Pruritus... |
ORPHA:85436 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Acne, Autoimmunity, Abnormal dental enamel morphology, Seborrheic dermatitis, Hy... |
ORPHA:567 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Hepatomegaly, Skin rash, Pneumonia, Abnormal immunoglobulin ... |
ORPHA:276 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ... |
OMIM:274150 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility, Asplenia, Bronchiectasis, Recurren... |
ORPHA:244 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Dyspareunia, Renal insufficiency, Elevated hepatic transaminase, Dysuria, ... |
ORPHA:36426 |
Dyskeratosis Congenita |
|
White hair, Hyperhidrosis, Premature graying of hair, Periodontitis, Skin vesicle, Sparse hair, H... |
ORPHA:1775 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin... |
ORPHA:542323 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Chromomycosis |
|
Keratitis, Pruritus, Hyperparakeratosis, Atypical scarring of skin, Hyperkeratosis, Keratoconjunc... |
ORPHA:182 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Thickened skin, Erythema, Skin ulcer, Palmoplantar keratoderma, Palmoplanta... |
ORPHA:659 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Skin ulcer, Fine hair, Hypohidrosis, Hyperkeratosis, Keratoconjunctivitis sicca, Sparse hair |
ORPHA:1806 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Increased circulating lactate dehydrogenase c... |
ORPHA:319213 |
Odontoonychodermal Dysplasia |
|
Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Hypergranulosis, Sparse eyebrow,... |
OMIM:257980 |
Agel Amyloidosis |
|
Proteinuria, Pruritus, Stage 5 chronic kidney disease, Cutis laxa, Keratoconjunctivitis sicca, Ab... |
ORPHA:85448 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hyperma... |
ORPHA:358 |
Buerger Disease |
|
Skin ulcer, Hyperhidrosis |
ORPHA:36258 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer |
OMIM:604571 |
Hatipoglu Immunodeficiency Syndrome |
|
Anhidrosis, Inguinal hernia, Hypospadias, Eczema, Thickened skin, Cryptorchidism, Atopic dermatit... |
OMIM:620331 |
Milroy Disease |
|
Hydrocele testis, Hyperkeratosis, Erysipelas, Cellulitis |
ORPHA:79452 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Inf... |
OMIM:618108 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Acantholysis,... |
ORPHA:537 |
Bethlem Myopathy |
|
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
ORPHA:610 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Smooth... |
ORPHA:1018 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti... |
OMIM:617729 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... |
ORPHA:1809 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h... |
OMIM:269200 |
Adiposis Dolorosa |
|
Recurrent skin infections, Autoimmunity, Sparse axillary hair, Sparse pubic hair, Arthritis, Dry ... |
ORPHA:36397 |
Meningococcal Meningitis |
|
Renal insufficiency, Skin rash, Elevated circulating C-reactive protein concentration, Infectious... |
ORPHA:33475 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Hemoglobinuria, Pallor, Unconjugated hyperbilirubinemia, Prolonged neonat... |
OMIM:300908 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated crea... |
OMIM:251900 |
Incontinentia Pigmenti |
|
Alopecia, Maculopapular exanthema, Scarring, Supernumerary nipple, Keratitis, Erythema, Uveitis, ... |
OMIM:308300 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:324964 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis... |
ORPHA:534 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Recurrent aphthous stoma... |
OMIM:150550 |
Glycogen Storage Disease Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1657 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Costello Syndrome |
|
Redundant skin, Abnormal dental enamel morphology, Abnormal hair morphology, Cryptorchidism, Lack... |
ORPHA:3071 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Joint contracture, Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Propionic Acidemia |
|
Hepatomegaly, Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, Hyperammonemia,... |
OMIM:606054 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hyperkeratosis, Congenital nonbullous ichthyosifo... |
OMIM:608013 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Skin rash, Elevated circulating creatine kinase concentration, Ele... |
OMIM:610377 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Eczema, Decreased circulating total IgM, Defective T cell prolifera... |
OMIM:619774 |
Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperhidrosis, Increased circulating IgG leve... |
ORPHA:99827 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Fine hair, Hypohidrosis, Hyperkeratosis, Dry skin |
ORPHA:1028 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Aminoaciduria, Proteinuria |
OMIM:603585 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... |
OMIM:614868 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Arthritis, Kerato... |
OMIM:617321 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Decreased liver function |
OMIM:602199 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Autoimmune antibody positivity, Pallor, Infec... |
ORPHA:3386 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa... |
ORPHA:64 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis... |
OMIM:301072 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Cryptorchidism, Low... |
ORPHA:1340 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Ret... |
ORPHA:90340 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Striae distensae, Acne, Dorsocervical fat pad, Hyperl... |
ORPHA:189427 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
Incontinentia Pigmenti |
|
Alopecia, Skin rash, Abnormal dental enamel morphology, Camptodactyly of finger, Supernumerary ni... |
ORPHA:464 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Elevated circulating alkaline... |
ORPHA:330001 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, ... |
ORPHA:37 |
Bone Marrow Failure Syndrome 3 |
|
Eczema, Pancreatic steatosis, Cryptorchidism, Exocrine pancreatic insufficiency, Hyperkeratosis, ... |
OMIM:617052 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect... |
ORPHA:678 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Camptodactyly of finger, Hyperkeratosis, Coarse hair, Joint contracture of the 5th ... |
ORPHA:1883 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Splenomegaly, Skin ulcer, Otitis media, Inflammat... |
ORPHA:379 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob... |
OMIM:619127 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Coarse hair, Sparse hair, Pili tor... |
OMIM:301845 |
Giant Cell Arteritis |
|
Alopecia, Pericarditis, Renal insufficiency, Skin ulcer, Hyperhidrosis, Hematuria, Arthritis, Hep... |
ORPHA:397 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture of the distal interphala... |
ORPHA:2614 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair, Hyperhidrosis |
OMIM:615279 |
Pachyonychia Congenita |
|
Alopecia, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplan... |
ORPHA:2309 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Hyperhidrosis |
OMIM:171420 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Recurrent skin infections, Scarring, Pruritus, Recurrent pneumon... |
ORPHA:158668 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Gastrointestinal inflammation, Conjunctivitis, Abnormal penis morphology, Skin ulcer, Acute kidne... |
ORPHA:95455 |
Cirrhosis, Familial |
|
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of L-fu... |
OMIM:215600 |
Eec Syndrome |
|
Slow-growing hair, Abnormal dental enamel morphology, Hypospadias, Renal hypoplasia/aplasia, Kera... |
ORPHA:1896 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Cytoplasmic antineutrophil antibody positivity, Uveitis, Skin... |
OMIM:608710 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Osteomyelitis, Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention, Menorrhagia, ... |
ORPHA:2795 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Death in infancy, Seborrheic dermatitis, Pancreatic cyst... |
OMIM:274000 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Flexion contractur... |
ORPHA:206549 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Camptodactyly of finger |
ORPHA:2774 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hiatus hernia, Nephrotic syndrome,... |
OMIM:251300 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hypohidrosis, Hematuria, Arthri... |
ORPHA:324 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Hepatomegaly |
ORPHA:79279 |
Lymphatic Malformation 4 |
|
Hydrocele testis, Hyperkeratosis, Cellulitis |
OMIM:615907 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Immunodeficiency 12 |
|
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Cheilitis, Bronchiectasis,... |
OMIM:615468 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail ... |
OMIM:610644 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... |
OMIM:158310 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Ke... |
ORPHA:79128 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hyperammonemia, Hepatocellular nec... |
ORPHA:90062 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Atopic dermatitis,... |
OMIM:115150 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Hypertriglyceridemia, Skin rash, Elevated hepatic tr... |
OMIM:603553 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Anhidrosis, Osteomyelitis, Skin ulcer |
OMIM:613640 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Chronic rhinitis |
OMIM:615225 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Hypospadias, Cryptorchidism, ... |
OMIM:214100 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence, Skin ulcer |
ORPHA:206583 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Arthritis, ... |
ORPHA:29207 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Mild proteinuria, Death in childhood, Hyperalaninemia |
OMIM:619147 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, Synophrys, Renal cyst, Otitis media, Vesicourete... |
OMIM:122470 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d... |
OMIM:231530 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly o... |
ORPHA:2908 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Skin ulcer, Chronic mucocut... |
OMIM:116920 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Dystrophic fingernails, ... |
ORPHA:158673 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema, Impaired ADP-induced platelet aggregation, Menorrhagia... |
OMIM:617443 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Flexion contracture, Mildly elevated creatine kinase, Follicular hyperkeratosis, Hyperhidrosis |
OMIM:254090 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Renal insufficiency, Sparse eyelashes, Proteinuria, Sparse eyebrow, Erythema, ... |
OMIM:614748 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro... |
ORPHA:99228 |
Monosomy X |
|
Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro... |
ORPHA:99226 |
Turner Syndrome |
|
Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro... |
ORPHA:881 |
Digeorge Syndrome |
|
Renal dysplasia, Inguinal hernia, Renal insufficiency, Acne, Femoral hernia, Unilateral renal age... |
OMIM:188400 |
Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Abnormality of the gallbladder, Hyperhidrosis, Mucopolysacchariduria, ... |
ORPHA:349 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Abnormal erythrocyte enz... |
ORPHA:447 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Hepatic steatosis, Renal neoplasm, Alopecia, Prem... |
ORPHA:79474 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Increased circulating interleukin 6 concentration, Anuria, Pneumonia, Myocarditis, ... |
ORPHA:544482 |
Acrokeratoelastoidosis Of Costa |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratotic papule, Palmar hyper... |
ORPHA:38 |
Mycosis Fungoides |
|
Pruritus, Erythema, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Cockayne Syndrome |
|
Dry hair, Urinary incontinence, Congenital contracture, Hepatomegaly, Cryptorchidism, Renal hypop... |
ORPHA:191 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl... |
OMIM:167210 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Curly hair, Inguinal hernia, Sparse scalp hair, Eczema, Cryptorchid... |
OMIM:607721 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Male hypogonadism, Hypercho... |
OMIM:619471 |
Familial Benign Copper Deficiency |
|
Early balding, Decreased circulating copper concentration, Acne |
ORPHA:1551 |
Dengue Fever |
|
Hepatomegaly, Skin rash, Pruritus, Hypoproteinemia, Petechiae |
ORPHA:99828 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Flexion contracture, Hepatospleno... |
OMIM:609628 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Autoimmunity, Hypercalcemia, Parathormone-independent in... |
ORPHA:405 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia |
ORPHA:713 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Pneumonia, Ele... |
ORPHA:26793 |
Melas |
|
Proteinuria, Hypogonadotropic hypogonadism, Erythema, Focal segmental glomerulosclerosis, Proxima... |
ORPHA:550 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Pustule, Hyperkalemia, Atopic dermatitis, Increased circulating reni... |
ORPHA:171876 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash, Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine l... |
OMIM:253270 |
Superficial Epidermolytic Ichthyosis |
|
Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis |
ORPHA:455 |
Occipital Horn Syndrome |
|
Inguinal hernia, Recurrent urinary tract infections, Femoral hernia, Scarring, Thick hair, Hiatus... |
ORPHA:198 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Achilles tendon contracture, Elevated circulating creatine kinase concentration, Exercise-induced... |
OMIM:607155 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Striae distensae, Acne, Dorsocervical fat pa... |
ORPHA:96253 |
Ohdo Syndrome |
|
Sparse eyebrow, Cryptorchidism, Proteinuria |
OMIM:249620 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnormal dental enamel morphology... |
ORPHA:2273 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Immunodeficiency 17 |
|
Death in infancy, Autoimmune hemolytic anemia, Eczema, Chronic decreased cirulating IgG2, Death i... |
OMIM:615607 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Hypokalemia,... |
ORPHA:699 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... |
ORPHA:100026 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Foot osteomyelitis, Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Ac... |
OMIM:256840 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Alopecia totalis, Alopecia universalis, Acantholysis |
OMIM:609638 |
Xeroderma Pigmentosum |
|
Alopecia, Keratitis, Thickened skin, Cryptorchidism, Erythema, Hyperkeratosis, Aminoaciduria, Hyp... |
ORPHA:910 |
Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Elevated circulating creatine kinase concentration, Ele... |
OMIM:616878 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Recurrent otitis media, Cryptorchidism, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Acne, Renal salt wasting, Increased urinary 11-deoxycorticosterone level, Long penis, I... |
ORPHA:90795 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Thickened skin, Long penis, Hypercalciuria, Ac... |
ORPHA:508 |
Autoerythrocyte Sensitization Syndrome |
|
Superficial dermal perivascular inflammatory infiltrate, Autoimmune thrombocytopenia, Pruritus, H... |
ORPHA:324636 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia, Primary amenorrhea |
OMIM:191830 |
Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Arth... |
OMIM:260920 |
Flynn-Aird Syndrome |
|
Alopecia, Skin ulcer |
ORPHA:2047 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Acne, Renal agenesis, Frontal balding, Synophrys, Primary amenorrhea, Facial hirsu... |
ORPHA:247768 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Skin rash, Cystathi... |
OMIM:277380 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Enuresis, Eczema, Thick eyebrow, Seborrheic dermatitis |
ORPHA:369950 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Ollier Disease |
|
Skin ulcer |
ORPHA:296 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Enamel hypoplasia, Palmoplantar keratoderma, Nail dystrophy |
OMIM:616029 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Alopecia, Brittle hair, Multicystic kidney dysplasia, Abnormal den... |
ORPHA:2750 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Micronodular cirrhosis, Proteinuria, Elevated hepatic transaminase |
OMIM:192315 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Hypohidrosis, Urinary mulberry cells, Lipiduria |
OMIM:301500 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Hypohidrosis, Hyperkeratosis, Ichthyosis, Sparse hair |
ORPHA:1005 |
Bloom Syndrome |
|
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Skin rash,... |
ORPHA:125 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Eczema, Hypercalciuria, Nephrocalcinosis, Hypermagnesiuria, Hyperphosphatemia, Hypocalc... |
ORPHA:428 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Abnormal dental enamel morphology, Trichiasis, Dry skin, Hypohidrosis, Atypical s... |
OMIM:601701 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... |
ORPHA:90038 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Ureterocele, Vesicoureteral reflux, Micropenis, Hypogonadotropic hypogonadism, Sparse eyebrow, Cr... |
OMIM:604292 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Hypercholesterolemia, Camptodactyly of finger, Elevated c... |
OMIM:309000 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... |
OMIM:186580 |
Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Autoimmunity, Pruritus, Myocarditis, Erythema, Skin ulcer, ... |
ORPHA:221 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... |
ORPHA:565612 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Anhidrosis, Dry hair, Renal insufficiency, ... |
OMIM:216400 |
Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Eczema, Increased circulating IgA level, Reduced natural killer cell... |
OMIM:301000 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Skin rash, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circula... |
ORPHA:79284 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity... |
OMIM:617718 |
Myopathy With Lactic Acidosis, Hereditary |
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Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:255125 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
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Foot osteomyelitis, Osteomyelitis, Acral ulceration |
OMIM:162400 |
Cockayne Syndrome B |
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Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Renal insufficiency, Proteinuria, Hepa... |
OMIM:133540 |
Celiac Disease, Susceptibility To, 1 |
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Elevated hepatic transaminase, Alopecia, Eczema, Thyroiditis, Recurrent aphthous stomatitis, Hypo... |
OMIM:212750 |
Sjogren Syndrome |
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Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Severe Oculo-Renal-Cerebellar Syndrome |
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Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Imerslund-Gräsbeck Syndrome |
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Pallor, Proteinuria, Angular cheilitis |
ORPHA:35858 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
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Anhidrosis, Osteomyelitis, Urinary incontinence, Osteoarthritis, Acral ulceration, Septic arthritis |
OMIM:608654 |
Dyschondrosteosis-Nephritis Syndrome |
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Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
Mycetoma |
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Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis |
ORPHA:2583 |
Paroxysmal Cold Hemoglobinuria |
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Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria |
ORPHA:90035 |
Malignant Hyperthermia Of Anesthesia |
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Acute hepatic failure, Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, ... |
ORPHA:423 |
Darier-White Disease |
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Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
Leprosy |
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Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating foot ulcers, ... |
ORPHA:548 |
Renal Nutcracker Syndrome |
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Dyspareunia, Proteinuria, Dysmenorrhea, Hematuria, Renal artery stenosis, Infertility, Microscopi... |
ORPHA:71273 |
Galloway-Mowat Syndrome |
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Proteinuria, Camptodactyly of finger, Hiatus hernia, Nephrotic syndrome, Nephropathy |
ORPHA:2065 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Alopecia, Recurrent skin infections, Scarring, Erythema, Decreased circulating antibody level, At... |
ORPHA:79396 |
Beta-Thalassemia Major |
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Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepato... |
ORPHA:231214 |
Hajdu-Cheney Syndrome |
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Hepatomegaly, Inguinal hernia, Hypospadias, Thickened skin, Synophrys, Splenomegaly, Low anterior... |
ORPHA:955 |
Donnai-Barrow Syndrome |
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Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Non-acidotic proximal tubulopathy, Umb... |
OMIM:222448 |
Infantile Nephropathic Cystinosis |
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Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... |
ORPHA:411629 |
Pheochromocytoma |
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Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Hyperhidrosis, Renal artery st... |
OMIM:171300 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
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Skin ulcer, Purpura |
ORPHA:743 |
Pseudopelade Of Brocq |
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Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Apla... |
ORPHA:129 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Flexion contracture, Renal cyst, Knee flexion contracture, Death in childhood, Sparse hair, Micro... |
OMIM:210710 |
Zinc Deficiency, Transient Neonatal |
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Decreased serum zinc, Alopecia, Eczema |
OMIM:608118 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Fasciitis, Pericarditis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Proximal Renal Tubular Acidosis |
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Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... |
ORPHA:47159 |
Pachyonychia Congenita 3 |
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Chapped lip, Plantar hyperkeratosis, Hyperhidrosis, Palmoplantar keratoderma, Nail dystrophy, Fol... |
OMIM:615726 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Ureterocele, Vesicoureteral reflux, Sparse hair, Micropenis, Hypogonadotropic hypogonadism, Spars... |
OMIM:129900 |
Porokeratosis 7, Multiple Types |
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Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
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Parakeratosis, Porokeratosis |
OMIM:175800 |
Chronic Graft Versus Host Disease |
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Elevated hepatic transaminase, Fasciitis, Alopecia, Phimosis, Urinary bladder inflammation, Thick... |
ORPHA:99921 |
Melkersson-Rosenthal Syndrome |
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Inflammatory abnormality of the skin, Cheilitis, Oligosacchariduria |
ORPHA:2483 |
Rat-Bite Fever |
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Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Dry hair, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic i... |
OMIM:619991 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Hyperkeratosis, Death in infancy |
ORPHA:163966 |
Hermansky-Pudlak Syndrome |
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Renal insufficiency, Hypopigmentation of hair, Menometrorrhagia, Abnormal dental enamel morpholog... |
ORPHA:79430 |
Kikuchi-Fujimoto Disease |
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Elevated hepatic transaminase, Hepatomegaly, Alopecia, Skin rash, Elevated circulating C-reactive... |
ORPHA:50918 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce... |
ORPHA:35078 |
Pierson Syndrome |
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Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Dea... |
OMIM:609049 |
Igg4-Related Submandibular Gland Disease |
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Renal insufficiency, Autoimmunity, Cholangitis, Increased circulating IgG4 level, Abnormality of ... |
ORPHA:449432 |
Behcet Syndrome |
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Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis, Decr... |
OMIM:109650 |
Chime Syndrome |
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Abnormality of the kidney, Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse ha... |
ORPHA:3474 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Ketonuria, Abnormality of the upper urinary tract, Autoimmune antibody positivity, Renal tubular ... |
ORPHA:99885 |
Martin-Probst Syndrome |
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Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Umbilical hernia,... |
OMIM:300519 |
Myoglobinuria, Recurrent |
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Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Estrogen Resistance |
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Elevated alkaline phosphatase of bone origin, Acne, Primary amenorrhea, Breast aplasia, Acanthosi... |
OMIM:615363 |
Listeriosis |
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Unusual skin infection, Pericarditis, Osteomyelitis, Miscarriage, Pneumonia, Liver abscess, Pustu... |
ORPHA:533 |
Hyperzincemia With Functional Zinc Depletion |
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Increased serum zinc, Skin rash, Hepatomegaly |
OMIM:601979 |
Phosphoglycerate Kinase 1 Deficiency |
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Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Warty Dyskeratoma |
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Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
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Hyperkeratosis |
OMIM:145250 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
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Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal hair morphology, Microscopic hematuria |
ORPHA:86818 |
Premature Aging Syndrome, Penttinen Type |
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Lipoatrophy, Thickened skin, Palmoplantar hyperkeratosis, Hyperkeratosis, Sparse hair, Keloids, J... |
OMIM:601812 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Alopecia, Recurrent urinary tract infections, Hypospadias, Eczema, Testicular neoplasm, Cryptorch... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Alopecia, Recurrent urinary tract infections, Hypospadias, Eczema, Testicular neoplasm, Cryptorch... |
ORPHA:363958 |
Rothmund-Thomson Syndrome |
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Calcinosis, Plantar hyperkeratosis, Porokeratosis, Skin rash, Abnormal dental enamel morphology, ... |
ORPHA:2909 |
Parkes Weber Syndrome |
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Skin ulcer, Nephrotic syndrome, Abnormality of the urinary system, Urinary retention, Scaling ski... |
ORPHA:90307 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, Ir... |
OMIM:110100 |
Palmoplantar Keratoderma, Punctate Type Ia |
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Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Aymé-Gripp Syndrome |
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Sparse scalp hair, Pericarditis, Inguinal hernia, Proteinuria, Congenital diaphragmatic hernia, C... |
ORPHA:1272 |
Biotinidase Deficiency |
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Alopecia, Skin rash, Hyperammonemia, Organic aciduria, Conjunctivitis, Eczematoid dermatitis, Dec... |
ORPHA:79241 |
Amoebiasis Due To Free-Living Amoebae |
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Unusual skin infection, Sinusitis, Pneumonia, Pustule, Skin ulcer, Intrarenal abscess, Infectious... |
ORPHA:68 |
Holoprosencephaly |
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Omphalocele, Hyponatremia, Hypoplasia of penis, Proteinuria, Highly arched eyebrow, Congenital di... |
ORPHA:2162 |
Punctate Palmoplantar Keratoderma Type 1 |
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Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Renal cell carcinoma, Pa... |
ORPHA:79501 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Acne, Frontal balding, Oligozoospermia, Hypokalemia, Oligomenor... |
ORPHA:786 |
Brooke-Spiegler Syndrome |
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Skin ulcer |
ORPHA:79493 |
Gaucher Disease Type 3 |
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Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Increased circulating antibody level |
ORPHA:77261 |
Lethal Acantholytic Erosive Disorder |
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Absent eyebrow, Acantholysis, Absent eyelashes, Congenital alopecia totalis, Camptodactyly of toe... |
ORPHA:158687 |
Hellp Syndrome |
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Elevated hepatic transaminase, Proteinuria, Hemoglobinuria, Increased circulating lactate dehydro... |
ORPHA:244242 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... |
ORPHA:79403 |
Marburg Hemorrhagic Fever |
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Elevated hepatic transaminase, Pericarditis, Renal insufficiency, Skin rash, Maculopapular exanth... |
ORPHA:99826 |
White Sponge Nevus 2 |
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Hyperparakeratosis |
OMIM:615785 |
Immunodeficiency 31C |
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Hepatomegaly, Autoimmune hemolytic anemia, Osteomyelitis, Eczema, Decreased lymphocyte proliferat... |
OMIM:614162 |
Yellow Fever |
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Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circul... |
ORPHA:99829 |
Familial Keratoacanthoma |
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Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Tylosis With Esophageal Cancer |
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Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyponatremia, Acne, Hypogonadotropic hypogonadism, Frontal balding, Renal salt wasting, Abnormali... |
ORPHA:90794 |
Williams Syndrome |
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Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant skin, Abnormal... |
ORPHA:904 |
Noonan Syndrome 2 |
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Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperkeratosis, Palmoplantar ... |
OMIM:605275 |
Renal Agenesis |
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Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Pachyonychia Congenita 1 |
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Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis |
OMIM:167200 |
Plague |
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Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Enterocoliti... |
ORPHA:707 |
Squamous Cell Carcinoma Of The Anal Canal |
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Neoplasm of the liver, Skin ulcer |
ORPHA:424019 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Wagro Syndrome |
|
Nephroblastoma, Proteinuria, Decreased testicular size |
OMIM:612469 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... |
ORPHA:79404 |
Infantile Systemic Hyalinosis |
|
Thickened skin, Camptodactyly of finger, Skin ulcer |
ORPHA:2176 |
Good Syndrome |
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Recurrent urinary tract infections, Sinusitis, Recurrent skin infections, Bronchiectasis, Decreas... |
ORPHA:169105 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Hyperhidrosis |
ORPHA:28378 |
Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Hyperkeratosis, Aminoaciduria, Dry skin, Petechiae |
OMIM:609242 |
Familial Tumoral Calcinosis |
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Hepatomegaly, Skin rash, Splenomegaly, Erythema, Hyperhidrosis, Nephrocalcinosis |
ORPHA:53715 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Inguinal hernia, Recurrent pneumonia, Excessive wrinkled skin, Bladder diverticulum, Follicular h... |
OMIM:225400 |
Familial Multiple Nevi Flammei |
|
Skin ulcer |
ORPHA:624 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Proteinuria, Pancreatic cysts, Hepatic fibrosis, Polycystic kidney dysplasia,... |
OMIM:311200 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Anhidrosis, Sparse scalp hair, Osteomyelitis, Keratitis, Corneal scarring, Nail dystrophy, Acral ... |
OMIM:256800 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Sparse scalp hair, Striae distensae, Pancreatic adenocarcinoma,... |
ORPHA:99889 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Hyperkeratosis, Palmoplantar cutis laxa |
OMIM:616564 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... |
ORPHA:793 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Hypoplastic nipples, Dry skin,... |
ORPHA:978 |
Mullerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Unilateral renal agenesis, Acne, Hirsutism |
OMIM:158330 |
Ramon Syndrome |
|
Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis |
OMIM:266270 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor... |
ORPHA:294023 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
Immunodeficiency 55 |
|
Dry skin, Recurrent skin infections, Eczema, Ichthyosis |
OMIM:617827 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... |
OMIM:301074 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline, Hypohidrosis |
OMIM:615510 |
De Sanctis-Cacchione Syndrome |
|
Keratitis, Bilateral cryptorchidism, Parakeratosis, Conjunctivitis |
OMIM:278800 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Limb joint contracture, Sparse eyelashes, Short nail, Hypospadias, Absent e... |
OMIM:275210 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Pruritus, Hydronephrosis, Periodontitis, Moderate albuminuria, Dentinogenesis imperfecta |
OMIM:619269 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Inguinal hernia, Cutis laxa, Bladder diverticulum, Atrophic scars, Follicular hyperkeratosis, Umb... |
OMIM:614557 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, Azoospermia, Hepatic fib... |
ORPHA:2072 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Eczema, Petechiae, Increased circulating IgA level |
OMIM:313900 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Hypophosphaturia, Thickened skin, Synophrys, Hypoplastic sweat gland... |
ORPHA:73223 |
Restrictive Dermopathy |
|
Ureteral duplication, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Short na... |
ORPHA:1662 |
Sarcoidosis |
|
Hepatomegaly, Alopecia, Renal insufficiency, Maculopapular exanthema, Scarring, Hypercalcemia, Po... |
ORPHA:797 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Highly arched eyeb... |
ORPHA:572333 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Lipodystrophy, Proteinu... |
ORPHA:79318 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Episodic hyperhidrosis, Acral ulceration, Anhidrosis |
OMIM:201300 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Lipoma, Hyperkeratosis |
OMIM:620189 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
6Q Terminal Deletion Syndrome |
|
Hypospadias, Highly arched eyebrow, Phimosis, Low anterior hairline, Hyperkeratosis |
ORPHA:75857 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Coarse hair, Sparse hair |
OMIM:118650 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Synophrys, Atypical scarring of skin, Bladder diverticulum, Follicular hyperkera... |
ORPHA:536545 |
Cowden Syndrome |
|
Abnormal penis morphology, Abnormality of the kidney, Renal cell carcinoma, Palmoplantar keratode... |
ORPHA:201 |
Split Cord Malformation |
|
Neurogenic bladder, Renal duplication, Urinary incontinence, Hypospadias, Detrusor sphincter dyss... |
ORPHA:573278 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Cryptorchidism, Jaundice, Hypogonadism, Moderate albuminuria |
OMIM:614231 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sparse hair, Cryptorchidism, Proteinuria, Hiatus hernia |
OMIM:616682 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Nail dystrophy, Skin ulcer, Amelogenesis imperfecta |
OMIM:245660 |
Proteus Syndrome |
|
Macroorchidism, Abnormal dental enamel morphology, Testicular neoplasm, Thickened skin, Abnormal ... |
ORPHA:744 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Erythema, Elbow flexion contracture, Follicular hyperkeratosis, Flexio... |
OMIM:618175 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis |
ORPHA:79280 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Skin ulcer |
ORPHA:424016 |