Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level, Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Palmar hype... |
OMIM:144200 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... |
OMIM:618944 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Allergic rhinitis, Pruritus, Parakeratosis, Increased circulating IgE level, H... |
ORPHA:90368 |
Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin |
ORPHA:464318 |
Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopa... |
ORPHA:79147 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Increased circulating IgE level, Hyperkeratosis |
ORPHA:89843 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis |
ORPHA:735 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... |
OMIM:613736 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... |
OMIM:613953 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis |
OMIM:618531 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79503 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Increased... |
ORPHA:90280 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgG le... |
OMIM:618982 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritus |
ORPHA:498359 |
Netherton Syndrome |
|
Allergic rhinitis, Erythroderma, Angioedema, Decreased circulating IgG level, Hypernatremic dehyd... |
OMIM:256500 |
Candidiasis, Familial, 2 |
|
Increased circulating IgE level, Chronic oral candidiasis, Deep dermatophytosis |
OMIM:212050 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Edema, Recurrent skin infections |
ORPHA:345 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Immunodeficiency 25 |
|
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Hyperkeratosis |
OMIM:270220 |
Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Lack of T cell function, Recurrent otitis media,... |
ORPHA:277 |
Cole Disease |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615522 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Severe Combined Immunodeficiency, X-Linked |
|
Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Chronic oral candidiasis, Reduced... |
OMIM:300400 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... |
OMIM:617241 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... |
OMIM:606843 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis |
OMIM:101900 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Increased ... |
OMIM:615767 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... |
OMIM:147060 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis |
OMIM:617571 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, Pneumonia, Chronic otitis media, Increased circulating IgE level, Recurrent ba... |
ORPHA:217390 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Ichthyosis With Confetti |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:609165 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level |
OMIM:618523 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal perivascular i... |
ORPHA:87503 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... |
ORPHA:499 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma |
OMIM:133200 |
Pityriasis Rubra Pilaris |
|
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Palmoplantar keratoderma |
ORPHA:2897 |
Peeling Skin Syndrome 1 |
|
Pruritus, Increased circulating IgE level |
OMIM:270300 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
Pachyonychia Congenita 4 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615728 |
Iga Pemphigus |
|
Pustule, Acantholysis, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of th... |
ORPHA:555905 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
Acquired Ichthyosis |
|
Pruritus, Palmoplantar keratoderma, Recurrent skin infections, Hyperkeratosis |
ORPHA:454 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis |
ORPHA:79148 |
Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratosis |
ORPHA:79399 |
Psoriasis 2 |
|
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis |
OMIM:602723 |
Netherton Syndrome |
|
Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating IgE level, Skin... |
ORPHA:634 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:617525 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Palmoplantar keratoderma, Erythroderma |
OMIM:615024 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Crohn's disease... |
OMIM:619632 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Decreased circulating IgA level, Chronic oral cand... |
OMIM:606367 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Posterior blepharitis, Hyperke... |
OMIM:300918 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in response to ... |
ORPHA:169154 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level |
OMIM:300988 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Follicular hyperkeratosis, Acne, Contact dermatitis |
ORPHA:3406 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Impaired Ig class... |
OMIM:608106 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Olmsted Syndrome 2 |
|
Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkerat... |
OMIM:619208 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Parak... |
ORPHA:64745 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... |
OMIM:607271 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Recurrent skin infections, Pustule |
OMIM:618847 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Atopic dermatitis, Decreased specific antibody response to polysaccharide vaccine, Rhi... |
ORPHA:70593 |
Pgm3-Cdg |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Bronchiectasis, Chronic otitis media, Increased cir... |
ORPHA:443811 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Erythroderma, Hepatitis, Arthritis, Increased circulating IgE level, Glomerulonephritis |
OMIM:304790 |
Lymphatic Malformation 4 |
|
Lymphedema, Hyperkeratosis |
OMIM:615907 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased inflammatory response, Increased circulating IgE leve... |
ORPHA:449400 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Erythroderma, Hyperkeratosis |
ORPHA:312 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level |
OMIM:162700 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Palmoplantar keratoderma, Erythroderma, Parakeratosis |
OMIM:604777 |
Classic Mycosis Fungoides |
|
Eczema, Pruritus, Edema, Skin rash, Hyperkeratosis |
ORPHA:2584 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Chronic otitis media, Pruritus, Osteomyelitis, Increased circulating IgE level, Skin rash |
ORPHA:2314 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Crohn's disease... |
OMIM:618394 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Erythroderma |
OMIM:615022 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Bronchiectasis, Increased circulating IgG level, Chronic mucocutaneous... |
OMIM:615816 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar keratoderma, Erythroderma, Punctate keratitis, Hyperkeratosis |
OMIM:602540 |
Lichen Planus Pemphigoides |
|
Conjunctivitis, Pruritus, Blepharitis, Hyperkeratosis |
ORPHA:254478 |
Aspergillosis |
|
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti... |
ORPHA:1163 |
Porokeratosis |
|
Pruritus, Hyperkeratosis |
ORPHA:79358 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Increased circulating IgE level, Pleural effusion |
ORPHA:2902 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Orthokeratosis, Re... |
OMIM:615508 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Erythroderma, Pruritus, Polyhydramnios, Follicular hyperkeratosis |
OMIM:608649 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... |
ORPHA:69126 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Stomatitis, Decreased circulating IgA level, Impaired memory B cell generation, Hepatitis, Decrea... |
OMIM:308230 |
Meige Disease |
|
Lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacterial skin infections, Cobb... |
ORPHA:90186 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... |
OMIM:600903 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Eczema, Defective T cell proliferation |
OMIM:614493 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... |
ORPHA:37042 |
Epidermolytic Hyperkeratosis |
|
Erythroderma, Palmoplantar hyperkeratosis |
OMIM:113800 |
Cirrhosis, Familial |
|
Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Vohwinkel Syndrome, Variant Form |
|
Hyperkeratosis, Orthokeratosis, Parakeratosis |
OMIM:604117 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circulating antibod... |
OMIM:300635 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Eczema |
OMIM:313900 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... |
OMIM:617765 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Decreased circulating total IgA, Pneumonia, Chronic oral candidiasis, Hepatitis, De... |
ORPHA:169160 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating antibody level, Periorbital edema, Skin rash |
OMIM:618048 |
Bazex Syndrome |
|
Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis |
ORPHA:166113 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... |
OMIM:618282 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia, Increased circulating antibody level |
OMIM:247800 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating antibody level, Recurrent otitis media |
OMIM:618495 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Acne inversa, Hyperkeratosis |
OMIM:617337 |
Lymphatic Malformation 3 |
|
Recurrent skin infections, Lymphedema |
OMIM:613480 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Increased circulating IgG1 level, Inflammatory abnormality of the s... |
ORPHA:449395 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... |
OMIM:617388 |
Milroy Disease |
|
Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Predominantly lower limb lymphedema |
ORPHA:79452 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Autoimmune Lymphoproliferative Syndrome |
|
Glomerulonephritis, Increased circulating IgA level, Decreased circulating IgG level, Hepatitis, ... |
ORPHA:3261 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Orthokeratosis, Hyperkeratosis |
OMIM:612281 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Prostatitis, Xerostomia, Increased circulating IgG4 level, Increased circulating IgG... |
ORPHA:449432 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Pneumonia, Decreased circulating IgA level, Increased circulating IgE level, Absent sp... |
OMIM:102700 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... |
ORPHA:284426 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Folliculitis, Palmoplantar keratoderma, Keratitis, Follicular hyperkeratosis, Blepharitis, Conjun... |
OMIM:308800 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... |
OMIM:615513 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Pustule, Pruritus, Crusting erythematous der... |
ORPHA:79481 |
Psoriasis 14, Pustular |
|
Cholangitis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Parakeratosis |
OMIM:614204 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis |
OMIM:173200 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Hyperkeratosis, Pruritus, Palmoplantar keratoderma, Parakeratosis |
OMIM:615821 |
Tularemia |
|
Pneumonia, Increased circulating antibody level, Otitis media, Inflammatory abnormality of the ey... |
ORPHA:3392 |
Schnitzler Syndrome |
|
Arthritis, Pruritus, Increased circulating IgM level, Skin rash |
ORPHA:37748 |
Subcorneal Pustular Dermatosis |
|
Pruritus, Increased circulating antibody level, Rheumatoid arthritis, Pustule |
ORPHA:48377 |
Pachyonychia Congenita 2 |
|
Folliculitis, Palmoplantar hyperkeratosis, Subungual hyperkeratosis |
OMIM:167210 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Gastri... |
OMIM:618108 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis |
OMIM:613148 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Increased circulating IgM level, Increased circulating IgG level, Bronchi... |
OMIM:619220 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Pneumonia, Decreased circulating IgA level, Abnormal immunoglobulin level, Chronic oral candidias... |
ORPHA:276 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... |
OMIM:616100 |
Superficial Epidermolytic Ichthyosis |
|
Edema, Palmoplantar keratoderma, Acantholysis |
ORPHA:455 |
Lead Poisoning |
|
Abnormality of humoral immunity, Increased circulating IgE level, Tubulointerstitial nephritis, S... |
ORPHA:330015 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus |
ORPHA:330064 |
Wiskott-Aldrich Syndrome |
|
Eczema, Inflammation of the large intestine, Increased circulating IgA level, Recurrent otitis me... |
OMIM:301000 |
Trichinellosis |
|
Edema, Facial edema, Increased circulating IgE level, Skin rash, Periorbital edema, Conjunctivitis |
ORPHA:863 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis |
OMIM:616295 |
Immunodeficiency 64 |
|
Defective T cell proliferation, Bronchiectasis, Increased circulating IgA level, Decreased circul... |
OMIM:618534 |
Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Pericardial effusion, Arthritis, Uveitis, Skin rash, Generalized hyperke... |
ORPHA:92 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... |
ORPHA:508533 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Eosinophilic infiltration of the... |
OMIM:618213 |
Peeling Skin Syndrome 4 |
|
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:607936 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Palmoplantar keratoderma, Parakeratosis, Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, H... |
ORPHA:79395 |
Pyoderma Gangrenosum |
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Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Aicardi-Goutieres Syndrome 7 |
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Atopic dermatitis, Increased circulating antibody level |
OMIM:615846 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Otiti... |
ORPHA:275 |
Immunodeficiency 81 |
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Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Impaired collagen-in... |
OMIM:619374 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Increased circulating IgA level, Glomerulonephritis |
OMIM:314000 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... |
OMIM:308240 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
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Folliculitis, Palmoplantar keratoderma, Keratitis, Blepharitis, Conjunctivitis |
OMIM:612843 |
Asthma, Short Stature, And Elevated Iga |
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Increased circulating IgA level |
OMIM:208600 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Membranous nephropathy, Reduced natural killer cell activity, Recurrent otitis media, Decreased s... |
OMIM:615559 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
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Orthokeratosis, Hyperkeratosis |
OMIM:613943 |
Familial Benign Chronic Pemphigus |
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Acantholysis, Hyperkeratosis |
ORPHA:2841 |
Igg4-Related Ophthalmic Disease |
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Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... |
ORPHA:449563 |
Pachyonychia Congenita 3 |
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Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis |
OMIM:615726 |
Immunodeficiency 33 |
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Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Immunodeficiency 58 |
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Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Recurrent cutaneo... |
OMIM:618131 |
Zika Virus Disease |
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Infectious encephalitis, Pruritus, Edema, Arthritis, Increased circulating IgM level, Maculopapul... |
ORPHA:448237 |
Interstitial Granulomatous Dermatitis With Arthritis |
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Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
Immunodeficiency 27A |
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Pneumonia, Salmonella osteomyelitis, Increased circulating IgG level, Increased inflammatory resp... |
OMIM:209950 |
Boutonneuse Fever |
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Increased circulating IgM level, Maculopapular exanthema, Increased circulating IgG level, Skin rash |
ORPHA:83313 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Pustule, Stomatitis, Osteomyelitis, Skin rash, Hyperkeratosis, Joint swelling |
OMIM:612852 |
Idiopathic Localized Lipodystrophy |
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Inflammatory abnormality of the skin, Pruritus |
ORPHA:90158 |
Selective Igm Deficiency |
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Non-infectious meningitis, Fasciitis, Crohn's disease, Decreased circulating total IgM, Allergic ... |
ORPHA:331235 |
Bleeding Disorder, Platelet-Type, 21 |
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Psoriasiform dermatitis, Eczema, Impaired platelet aggregation |
OMIM:617443 |
Autoimmune Hepatitis |
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Inflammation of the large intestine, Ascites, Sclerosing cholangitis, Fulminant hepatitis, Arthri... |
ORPHA:2137 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Pustule, Myositis, Increased circulating IgA level, Increased circulating IgG level, Malar rash, ... |
OMIM:615934 |
Complement Factor I Deficiency |
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Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Arthritis... |
OMIM:610984 |
Majeed Syndrome |
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Inflammatory abnormality of the skin, Joint swelling, Skin rash, Osteomyelitis |
OMIM:609628 |
Myeloma, Multiple |
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Paraproteinemia |
OMIM:254500 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Decreased lymphocyte apoptosis, Increased circulating IgA level, Nephritis, Increased circulating... |
OMIM:603909 |
Autoimmune Lymphoproliferative Syndrome |
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Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... |
OMIM:601859 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
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Increased circulating antibody level, Rheumatoid arthritis |
OMIM:178610 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Increased circulating IgA level, Panniculitis, Increased circulating IgM level, Skin rash, Joint ... |
OMIM:617099 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Increased circulating antibody level |
OMIM:615285 |
Yao Syndrome |
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Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Arthr... |
OMIM:617321 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Sinusitis, Myositis, Panniculitis, Arthritis, Increased circulating antibody level, Skin rash, Pe... |
OMIM:617591 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
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Perianal abscess, Folliculitis, Enterocolitis |
OMIM:612567 |
Prolidase Deficiency |
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Crusting erythematous dermatitis, Eczema, Recurrent pneumonia, Increased circulating antibody level |
OMIM:170100 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Pustule, Lack of T cell function, Chronic oral candidiasis, Partial IgA deficiency, Decreased lym... |
ORPHA:35078 |
Pneumocystosis |
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Interstitial pneumonitis, Chronic oral candidiasis, Increased circulating antibody level, Acute i... |
ORPHA:723 |
Mu-Heavy Chain Disease |
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Increased circulating antibody level |
ORPHA:100024 |
Angiostrongyliasis |
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Increased circulating IgA level, Pruritus, Increased circulating IgG level, Increased circulating... |
ORPHA:74 |
C3 Glomerulopathy |
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Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3, Membranoproliferat... |
ORPHA:329918 |
Reactive Arthritis |
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Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Hyperkerato... |
ORPHA:29207 |
Interstitial Lung Disease 2 |
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Increased circulating antibody level |
OMIM:178500 |
Hyper-Igd Syndrome |
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Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Arthritis, Serositis, S... |
OMIM:260920 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Increased circulating antibody level, Decreased lymphocyte apoptosis |
OMIM:614470 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Increased circulating antibody level |
OMIM:202700 |
Simple Cryoglobulinemia |
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Pericarditis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, N... |
ORPHA:91139 |
Majeed Syndrome |
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Inflammatory abnormality of the skin, Abnormal inflammatory response, Pustule, Synovitis, Edema, ... |
ORPHA:77297 |
Q Fever |
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Myocarditis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Pericardial effusion... |
ORPHA:781 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Increased circulating IgM ... |
OMIM:242860 |
Adult-Onset Nemaline Myopathy |
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Paraproteinemia |
ORPHA:171442 |
Simpson-Golabi-Behmel Syndrome |
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Increased circulating IgE level, Polyhydramnios |
ORPHA:373 |
Vexas Syndrome |
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Inflammatory abnormality of the skin, Nasal chondritis, Chondritis of pinna, Neutrophilic infiltr... |
OMIM:301054 |
Tempi Syndrome |
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Increased circulating IgG level, Ascites, Transudative pleural effusion |
ORPHA:284227 |
Melkersson-Rosenthal Syndrome |
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Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis |
ORPHA:2483 |
Inflammatory Pseudotumor Of The Liver |
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Increased hepatitis B virus antibody level |
ORPHA:90003 |
Ebola Hemorrhagic Fever |
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Increased circulating antibody level, Hepatitis, Acute pancreatitis, Maculopapular exanthema |
ORPHA:319218 |
Caffey Disease |
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Increased circulating antibody level |
ORPHA:1310 |
Coccidioidomycosis |
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Pericarditis, Folliculitis, Pneumonia, Peritonitis, Pruritus, Panniculitis, Arthritis, Pancreatit... |
ORPHA:228123 |
Leishmaniasis |
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Rhinitis, Increased circulating antibody level |
ORPHA:507 |
Uremic Pruritus |
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Inflammatory abnormality of the skin, Pruritus, Abnormality of serum cytokine level, Recurrent sk... |
ORPHA:94059 |
Adult Idiopathic Neutropenia |
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Recurrent aphthous stomatitis, Increased circulating IgM level |
ORPHA:2688 |
Congenital Analbuminemia |
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Edema, Facial edema, Increased circulating antibody level, Oligohydramnios, Pedal edema |
ORPHA:86816 |
Poems Syndrome |
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Pericardial effusion, Ascites, Abnormality of skin physiology, Edema, Increased circulating antib... |
ORPHA:2905 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Cheilitis, Pruritus, Chapped lip, Palmoplantar keratoderma, Follicular hyperkeratosis, Recurrent ... |
ORPHA:158668 |
Viss Syndrome |
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Atopic dermatitis, Eczema, Decreased circulating IgA level, Chronic gastritis, Polyhydramnios, In... |
OMIM:619472 |
Graft Versus Host Disease |
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Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... |
ORPHA:39812 |
Postinfectious Vasculitis |
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Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Cryoglobulinemia, Increa... |
ORPHA:48435 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Increased circulating IgG level |
ORPHA:206594 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Pruritus, In... |
ORPHA:562639 |
Centrifugal Lipodystrophy |
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Inflammatory abnormality of the skin, Lymphadenitis |
ORPHA:90156 |
Primary Sjögren Syndrome |
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Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... |
ORPHA:289390 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Increased circulating IgA level, Recurrent aphthous stomatitis, Arthritis, Peritonitis |
ORPHA:343 |
Primary Biliary Cholangitis |
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Ascites, Increased circulating IgA level, Pruritus, Hepatitis, Increased circulating IgM level, G... |
ORPHA:186 |
Gaucher Disease Type 1 |
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Pericardial effusion, Ascites, Increased circulating antibody level, Pedal edema, Osteoarthritis |
ORPHA:77259 |
Rift Valley Fever |
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Infectious encephalitis, Hepatitis, Increased circulating IgG level, Macular edema, Uveitis, Incr... |
ORPHA:319251 |
Lassa Fever |
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Increased circulating IgM level, Facial edema, Conjunctivitis |
ORPHA:99824 |
Mevalonic Aciduria |
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Increased circulating IgD level, Edema, Morbilliform rash, Skin rash |
OMIM:610377 |
O'Sullivan-Mcleod Syndrome |
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Increased circulating antibody level |
ORPHA:99965 |
X-Linked Lymphoproliferative Disease |
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Myocarditis, Inflammation of the large intestine, Decreased circulating IgA level, Increased circ... |
ORPHA:2442 |
Scleromyxedema |
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Pruritus, Paraproteinemia |
ORPHA:167635 |
Brucellosis |
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Myocarditis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Hip osteoarthritis, ... |
ORPHA:1304 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Insulin-Resistance Syndrome Type B |
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Pneumonia, Increased circulating IgA level, Nephritis, Decreased serum complement factor B, Incre... |
ORPHA:2298 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Increased circulating interleukin 6, Episcleritis, Increased circulating IgA level, Epididymitis,... |
OMIM:256040 |
Mucopolysaccharidosis-Plus Syndrome |
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Increased circulating IgM level, Nephritis, Recurrent pneumonia, Bone marrow hypocellularity |
OMIM:617303 |
Alveolar Echinococcosis |
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Cholangitis, Pedal edema, Cutaneous abscess, Increased circulating antibody level |
ORPHA:284 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Myositis, Xerostomia, Increased circula... |
ORPHA:79078 |
Japanese Encephalitis |
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Infectious encephalitis, Increased circulating antibody level, Pulmonary edema, Increased circula... |
ORPHA:79139 |
Malakoplakia |
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Inflammatory abnormality of the skin, Urinary bladder inflammation, Pruritus, Skin rash, Orchitis |
ORPHA:556 |
Multiple Myeloma |
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Increased circulating IgA level, Decreased circulating antibody level, Pleural effusion, Increase... |
ORPHA:29073 |
Sarcoidosis, Susceptibility To, 1 |
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Inflammation of the large intestine, Pericardial effusion, Bronchiectasis, Arthritis, Iridocyclit... |
OMIM:181000 |
Al Amyloidosis |
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Xerostomia, Increased circulating antibody level, Peripheral edema |
ORPHA:85443 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Tubulointerstitial nephritis, Posterior uveitis, Increased circulating IgG level, Macular edema, ... |
ORPHA:91500 |
Cystic Echinococcosis |
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Membranous nephropathy, Increased circulating antibody level |
ORPHA:400 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Inflammatory abnormality of the skin, Eczema, Infectious encephalitis, Bronchiectasis, Hepatitis,... |
ORPHA:391487 |
Crimean-Congo Hemorrhagic Fever |
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Myocarditis, Pericardial effusion, Ascites, Epididymitis, Increased circulating IgG level, Paroti... |
ORPHA:99827 |
Primary Sclerosing Cholangitis |
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Ascites, Pruritus, Hepatitis, Pancreatitis, Uveitis, Thyroiditis, Pleural effusion, Ulcerative co... |
ORPHA:171 |
Marburg Hemorrhagic Fever |
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Pericarditis, Arthritis, Pancreatitis, Increased circulating antibody level, Uveitis, Maculopapul... |
ORPHA:99826 |
Encephalitis Lethargica |
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Increased circulating antibody level |
ORPHA:83600 |
Tick-Borne Encephalitis |
|
Abnormality of serum cytokine level, Increased circulating IgM level, Increased circulating IgG l... |
ORPHA:297 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Decreased circulating IgG level, Increased circulating IgM level, Bone marrow hypocellularity, Co... |
ORPHA:505248 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Acantholysis, Pneumonia, Rhinit... |
ORPHA:95455 |
Gaucher Disease Type 3 |
|
Increased circulating antibody level, Pericardial effusion, Hydrops fetalis |
ORPHA:77261 |
Cysticercosis |
|
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level |
ORPHA:1560 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Gaucher Disease |
|
Hepatitis, Osteomyelitis, Increased circulating antibody level, Osteoarthritis, Hydrops fetalis |
ORPHA:355 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Membranous nephropathy, Decreased circulating antibody level, Pancr... |
ORPHA:470 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Yellow Fever |
|
Increased circulating interleukin 6, Increased circulating IgM level, Acute pancreatitis, Skin rash |
ORPHA:99829 |