Capillary Malformations, Congenital |
|
Nevus flammeus |
OMIM:163000 |
Nevus Comedonicus |
|
Nevus comedonicus |
OMIM:617025 |
Rheumatoid Nodulosis |
|
Subcutaneous nodule |
OMIM:180350 |
Knuckle Pads |
|
Subcutaneous nodule |
OMIM:149100 |
Epidermoid Cysts |
|
Epidermoid cyst |
OMIM:131600 |
Nevus Anemicus |
|
Nevus, Nevus anemicus |
OMIM:163050 |
Elastosis Perforans Serpiginosa |
|
Nevus |
OMIM:130100 |
Milia, Multiple Eruptive |
|
Milia |
OMIM:157400 |
Proliferating Trichilemmal Cyst |
|
Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Dyschromatosis Universalis Hereditaria 3 |
|
Hypermelanotic macule, Hypopigmented macule |
OMIM:615402 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Erythema, Papule, Skin ulcer |
ORPHA:2337 |
Laryngoonychocutaneous Syndrome |
|
Skin ulcer |
OMIM:245660 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Erythema, Skin ulcer |
ORPHA:31112 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Failure to thrive, Recu... |
OMIM:613501 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent skin infec... |
OMIM:614372 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Obesity, R... |
OMIM:300310 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Skin ulcer, Aplasia/Hypoplasia of the skin |
ORPHA:409 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Skin nodule, Annular cutaneous lesion, Skin ulcer, Erythema... |
ORPHA:542592 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Severe toxoplasmosis, Coccidioidomycosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... |
ORPHA:319552 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu... |
OMIM:612692 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... |
OMIM:613953 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Re... |
OMIM:613502 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, Skin ulcer |
ORPHA:1114 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Erythematous papule, Discoid lupus rash, ... |
ORPHA:90280 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
Juvenile Hyaline Fibromatosis |
|
Subcutaneous nodule, Papule, Skin ulcer, Aplasia/Hypoplasia of the skin |
ORPHA:2028 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, Recurrent bacterial infections, Agammaglobulinemia, Pneumonia, Bronchiectasis, Failure... |
OMIM:601495 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Pruritus, Skin rash, Subcutaneous nodule, Skin ulcer |
ORPHA:231 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial ... |
OMIM:616022 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... |
OMIM:613493 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura, Thin skin, Aplasia/Hypoplasia of the skin |
ORPHA:743 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Familial Keratoacanthoma |
|
Subcutaneous nodule, Papule, Skin ulcer |
ORPHA:493 |
Classic Mycosis Fungoides |
|
Hypopigmented skin patches, Skin plaque, Eczema, Pruritus, Erythema, Skin rash, Dry skin, Skin ulcer |
ORPHA:2584 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... |
OMIM:209920 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Acrogeria |
|
Excessive wrinkled skin, Skin ulcer, Thin skin, Aplasia/Hypoplasia of the skin |
ORPHA:2500 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Skin ulcer, Acral ulceration |
ORPHA:139578 |
Acute Lung Injury |
|
Sepsis, Abnormality of serum cytokine level, Increased circulating surfactant protein level, Incr... |
ORPHA:178320 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... |
OMIM:242850 |
Lichen Planopilaris |
|
Hypopigmented skin patches, Papule, Skin ulcer, Dermal atrophy |
ORPHA:525 |
Pyoderma Gangrenosum |
|
Pustule, Atrophic scars, Increased circulating antibody level, Papule, Skin ulcer, Skin vesicle |
ORPHA:48104 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgG level, Decreased circul... |
OMIM:193670 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Rec... |
ORPHA:572 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... |
OMIM:613860 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Pyoderma gangrenosum, Recurrent skin infections, Decreased circulating antibody level |
OMIM:616576 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgA level, Recurrent bronch... |
OMIM:240500 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... |
OMIM:300636 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Recur... |
OMIM:607594 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Reticular Dysgenesis |
|
Decreased circulating antibody level, Skin ulcer, Skin rash |
ORPHA:33355 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent ... |
ORPHA:276 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:606843 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin infections, Skin ulcer |
ORPHA:217390 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:614868 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Sepsis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... |
ORPHA:183675 |
Adult Acute Respiratory Distress Syndrome |
|
Sepsis, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal serum interleukin ... |
ORPHA:70578 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Acne, Pustule, Skin ulcer, Increased circulating antibody level |
ORPHA:69126 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Erythematous papule, Skin ulcer, Erythematous plaque |
ORPHA:86884 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Brooke-Spiegler Syndrome |
|
Skin-colored papule, Skin ulcer, Skin nodule, Nodular changes affecting the eyelids |
ORPHA:79493 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... |
OMIM:608957 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... |
OMIM:243700 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level |
ORPHA:169079 |
Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Glomerulonephriti... |
OMIM:613496 |
Thymic Aplasia |
|
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Hypo... |
ORPHA:83471 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer |
OMIM:221810 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Hepatitis, Increased inflammatory response, Increased circul... |
ORPHA:158061 |
Selective Igm Deficiency |
|
Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Fasciitis... |
ORPHA:331235 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... |
OMIM:307200 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... |
ORPHA:2688 |
Familial Multiple Nevi Flammei |
|
Nevus flammeus, Hypermelanotic macule, Papule, Skin ulcer |
ORPHA:624 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Ollier Disease |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:296 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer |
ORPHA:312 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Myocarditis, Increased circulating interleukin 6, Brain abscess, Pneu... |
ORPHA:544482 |
Leishmaniasis |
|
Skin plaque, Increased circulating antibody level, Papule, Pallor, Skin ulcer |
ORPHA:507 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic m... |
OMIM:147060 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia |
OMIM:619437 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... |
ORPHA:411527 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Polyarteritis Nodosa |
|
Subcutaneous nodule, Skin ulcer, Erythema |
ORPHA:767 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Isolated Agammaglobulinemia |
|
Skin ulcer, Skin rash, Recurrent cutaneous abscess formation |
ORPHA:229717 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pyoderma gangrenosum, Cystic acne, Acne |
OMIM:604416 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythroderma, Infectiou... |
ORPHA:540 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Pruritus, Increased circulating IgE level, Papule, Skin rash, Skin ulcer, Skin vesicle |
ORPHA:2314 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Agammaglobulinemia, Recurrent cutaneous abscess formation, Skin rash,... |
ORPHA:47 |
Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Stomatitis, Decreased circulating IgA level, Failure to t... |
OMIM:308230 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... |
OMIM:608184 |
Sweet Syndrome |
|
Increased circulating interleukin 6, Inflammation of the large intestine, Predominantly dermal ne... |
ORPHA:3243 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Decreased circulating antibody ... |
OMIM:616005 |
Prolidase Deficiency |
|
Eczema, Petechiae, Increased circulating antibody level, Crusting erythematous dermatitis, Skin u... |
OMIM:170100 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Prolidase Deficiency |
|
Pruritus, Erythema, Thin skin, Papule, Aplasia/Hypoplasia of the skin, Dry skin, Crusting erythem... |
ORPHA:742 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Decreased circulating IgA level, Lymphadenitis, Decreased circula... |
ORPHA:331206 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent bacterial infections, Psoriasiform dermatitis, Eczema, Failure to thrive in infancy, Er... |
OMIM:606367 |
Acquired Purpura Fulminans |
|
Macule, Macular purpura, Pyoderma gangrenosum, Erythematous macule, Skin rash |
ORPHA:49566 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Flynn-Aird Syndrome |
|
Skin ulcer, Dermal atrophy |
ORPHA:2047 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Chronic Mucocutaneous Candidiasis |
|
Pruritus, Erythema, Dyspareunia, Papule, Skin rash, Skin ulcer |
ORPHA:1334 |
Meige Disease |
|
Skin erosion, Atypical scarring of skin, Recurrent bacterial skin infections, Recurrent skin infe... |
ORPHA:90186 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Omenn Syndrome |
|
Recurrent bacterial infections, Hypoproteinemia, Erythroderma, Pneumonia, Failure to thrive, Recu... |
OMIM:603554 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... |
OMIM:607676 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer, Aplasia/Hypoplasia of the skin |
ORPHA:1657 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal neovas... |
OMIM:133780 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Pruritus, Abnormality of the menstrual cycle, Papule, Skin ... |
ORPHA:556 |
Takayasu Arteritis |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:3287 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Hypouricemia, Recurrent bacterial infections, Recurrent opportunistic infections, Pneu... |
OMIM:613179 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Elevated circulating C-reactive ... |
ORPHA:48435 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Neutrophilic Dermatosis, Acute Febrile |
|
Pyoderma gangrenosum, Cystic acne, Erythema, Acne inversa |
OMIM:608068 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Skin fissure, Skin ulcer, Erythema |
ORPHA:659 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Infantile Myofibromatosis |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:2591 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Severe cytomegalovirus infection... |
OMIM:300291 |
Reynolds Syndrome |
|
Pruritus, Skin ulcer, Skin rash |
ORPHA:779 |
Pgm3-Cdg |
|
Sepsis, Eczema, Chronic otitis media, Recurrent infections, Recurrent respiratory infections, All... |
ORPHA:443811 |
Immunodeficiency 27B |
|
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis |
OMIM:615978 |
Cryoglobulinemic Vasculitis |
|
Purpura, Skin ulcer, Petechiae |
ORPHA:91138 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Severe varicella zoster infection, Bronchiectasis, Failure to thrive, ... |
OMIM:615816 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Failure to thrive, Recurrent otitis media, Recurrent pneu... |
OMIM:617475 |
Chronic Granulomatous Disease |
|
Eczema, Hypermelanotic macule, Macule, Skin ulcer |
ORPHA:379 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum, Chronic oral candidiasis |
OMIM:150550 |
Livedoid Vasculopathy |
|
Ecchymosis, Superficial dermal perivascular inflammatory infiltrate, Macular purpura, Erythematou... |
ORPHA:542643 |
Complement Factor I Deficiency |
|
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... |
OMIM:610984 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Recurrent bacterial infections, Pneumonia, Decreased circulating IgA level, Failure to... |
OMIM:102700 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type |
|
Penetrating foot ulcers |
OMIM:118230 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Pneumonia, Chronic otitis media, Recurrent fungal infecti... |
ORPHA:169090 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Pneumonia, Rec... |
ORPHA:486 |
Adult Syndrome |
|
Dry skin, Skin ulcer, Thin skin, Melanocytic nevus |
ORPHA:978 |
Free Sialic Acid Storage Disease |
|
Skin ulcer |
ORPHA:834 |
Retinal Venous Beading |
|
Abnormal distribution of retinal arterioles and venules, Retinal neovascularization, Vitreous hem... |
OMIM:180080 |
Microscopic Polyangiitis |
|
Subcutaneous nodule, Skin ulcer, Skin rash, Erythema |
ORPHA:727 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Oligoarthritis, Sacroiliac arthritis, Anterior uveitis, Iridocyclitis, U... |
ORPHA:85436 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Vitreo... |
OMIM:193220 |
Werner Syndrome |
|
Secondary amenorrhea, Spontaneous abortion, Hypogonadism, Lack of skin elasticity, Aplasia/Hypopl... |
ORPHA:902 |
Idiopathic Bronchiectasis |
|
Cachexia, Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent Haemophilus inf... |
ORPHA:60033 |
Acrodermatitis Enteropathica |
|
Dry skin, Erythema, Pustule, Skin ulcer |
ORPHA:37 |
Immunoglobulin A Vasculitis |
|
Macule, Pustule, Erythema, Purpura, Skin rash, Orchitis, Skin ulcer |
ORPHA:761 |
Whim Syndrome |
|
Sinusitis, Sepsis, Recurrent bacterial infections, Pneumonia, Bronchiectasis, Lymphadenitis, Decr... |
ORPHA:51636 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... |
OMIM:233710 |
Hereditary Spherocytosis |
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Pallor, Skin ulcer, Maculopapular exanthema |
ORPHA:822 |
Vici Syndrome |
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Recurrent bacterial infections, Failure to thrive, Recurrent fungal infections, Decreased circula... |
OMIM:242840 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
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Penetrating foot ulcers |
OMIM:118301 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
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Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... |
OMIM:306400 |
Diffuse Cutaneous Systemic Sclerosis |
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Skin ulcer, Dyspareunia |
ORPHA:220393 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormality of serum cytokine level, Increased circulating interleukin 6, Elevated circulating cr... |
ORPHA:542323 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Eczema, Decreased circulating antibody level, Bone marrow hypocellularity, Purpura, Skin rash, Ur... |
OMIM:615688 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Recurrent bacterial infections, Psoriasiform dermatitis, Decreased circulating total IgA, Decreas... |
ORPHA:221139 |
Juvenile Dermatomyositis |
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Pruritus, Erythema, Skin rash, Dry skin, Skin ulcer |
ORPHA:93672 |
Infantile Systemic Hyalinosis |
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Subcutaneous nodule, Skin ulcer |
ORPHA:2176 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
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Recurrent bacterial infections |
OMIM:610738 |
Hereditary Acrokeratotic Poikiloderma |
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Hypopigmented skin patches, Eczema, Pustule, Erythema, Thin skin, Papule, Skin ulcer |
ORPHA:2907 |
Ectodermal Dysplasia-Blindness Syndrome |
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Skin ulcer |
ORPHA:1806 |
Fusariosis |
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Skin detachment, Papule, Maculopapular exanthema, Subcutaneous nodule, Skin ulcer |
ORPHA:228119 |
Leukocyte Adhesion Deficiency, Type I |
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Skin ulcer |
OMIM:116920 |
Beta-Thalassemia Intermedia |
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Hypogonadism, Pallor, Skin ulcer |
ORPHA:231222 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
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Acral ulceration |
OMIM:613115 |
Blau Syndrome |
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Eczema, Intermittent generalized erythematous papular rash, Skin ulcer, Erythema nodosum |
OMIM:186580 |
Catastrophic Antiphospholipid Syndrome |
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Spontaneous abortion, Skin ulcer |
ORPHA:464343 |
Cushing Disease |
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Ecchymosis, Secondary amenorrhea, Oligomenorrhea, Amenorrhea, Acne, Striae distensae, Thin skin, ... |
ORPHA:96253 |
Hypocomplementemic Urticarial Vasculitis |
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Recurrent bacterial infections, Episcleritis, Arthritis, Meningitis, Uveitis, Inflammatory abnorm... |
ORPHA:36412 |
Leukocyte Adhesion Deficiency, Type Iii |
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Recurrent bacterial infections, Sepsis, Recurrent skin infections |
OMIM:612840 |
Systemic Sclerosis |
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Digital ulcer, Spotty hypopigmentation, Pruritus, Cutaneous sclerotic plaque, Digital pitting sca... |
ORPHA:90291 |
X-Linked Severe Congenital Neutropenia |
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Recurrent bacterial infections |
ORPHA:86788 |
Amoebiasis Due To Free-Living Amoebae |
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Unusual skin infection, Pustule, Papule, Subcutaneous nodule, Skin ulcer |
ORPHA:68 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
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Acral ulceration |
OMIM:608654 |
Incontinentia Pigmenti |
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Hypopigmented skin patches, Erythema, Skin ulcer, Skin rash |
ORPHA:464 |
Dominant Beta-Thalassemia |
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Pallor, Skin ulcer |
ORPHA:231226 |
Immunodeficiency 10 |
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Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Giant Cell Arteritis |
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Skin ulcer |
ORPHA:397 |
Mirage Syndrome |
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Hyperkalemia, Hyponatremia, Sepsis, Recurrent bacterial infections, Recurrent urinary tract infec... |
OMIM:617053 |
Wiskott-Aldrich Syndrome |
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Eczema, Abnormal platelet function, Petechiae, Abnormality of the menstrual cycle, Purpura, Skin ... |
ORPHA:906 |
Immunodeficiency 47 |
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Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating total IgG,... |
OMIM:300972 |
Dermatomyositis |
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Pruritus, Erythema, Papule, Aplasia/Hypoplasia of the skin, Dry skin, Skin ulcer |
ORPHA:221 |
Dyskeratosis Congenita |
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Hypopigmented skin patches, Macule, Skin ulcer, Bone marrow hypocellularity, Aplasia/Hypoplasia o... |
ORPHA:1775 |
Primary Sjögren Syndrome |
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Lichenoid skin lesion, Decreased circulating antibody level, Increased circulating antibody level... |
ORPHA:289390 |
Beta-Thalassemia Major |
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Pallor, Skin ulcer |
ORPHA:231214 |
Lysinuric Protein Intolerance |
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Tubulointerstitial nephritis, Decreased circulating antibody level, Hyperglycinemia, Hyperammonem... |
ORPHA:470 |
Immunodeficiency 21 |
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Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
Parkes Weber Syndrome |
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Scaling skin, Capillary malformation, Skin ulcer, Erythematous plaque |
ORPHA:90307 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Hypertension, Telangiectasia, Cardiomyopathy, Raynaud phenomenon, Macular edema, Abnormal retinal... |
ORPHA:247691 |
Toxic Epidermal Necrolysis |
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Erythema, Macule, Skin ulcer |
ORPHA:537 |
Angioosteohypertrophic Syndrome |
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Hyperpigmented nevi, Abnormality of the menstrual cycle, Skin ulcer, Melanocytic nevus |
ORPHA:2346 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
Complement Component 5 Deficiency |
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Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Scaling skin, Dry skin, Subcutaneous nodule, Erysipelas, Skin ulcer |
ORPHA:2526 |
Granulomatosis With Polyangiitis |
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Prostatitis, Papule, Purpura, Skin rash, Skin ulcer |
ORPHA:900 |
Chédiak-Higashi Syndrome |
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Recurrent bacterial infections, Hypoproteinemia, Hyponatremia, Recurrent infections, Periodontiti... |
ORPHA:167 |
Kenny-Caffey Syndrome, Type 1 |
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Hypomagnesemia, Recurrent bacterial infections, Hypocalcemia |
OMIM:244460 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Sepsis, Recurrent aphthous stomatitis, Recurrent staphylococcal infections, Conjunctiv... |
ORPHA:2968 |
Leprosy |
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Verrucous papule, Skin nodule, Penetrating foot ulcers, Acral ulceration, Hypopigmented macule, U... |
ORPHA:548 |
Congenital Disorder Of Glycosylation, Type Iif |
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Recurrent bacterial infections |
OMIM:603585 |
Granulomatosis With Polyangiitis |
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Skin ulcer |
OMIM:608710 |
Mannosidosis, Alpha B, Lysosomal |
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Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Adenocarcinoma Of The Anal Canal |
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Skin ulcer |
ORPHA:424016 |
Immunodeficiency 87 And Autoimmunity |
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Recurrent bacterial infections, Sepsis, Elevated circulating C-reactive protein concentration, Sm... |
OMIM:619573 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Failure to thrive, Sepsis, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:612541 |
Shwachman-Diamond Syndrome |
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Sinusitis, Sepsis, Eczema, Recurrent bacterial infections, Pneumonia, Failure to thrive, Hypoamyl... |
ORPHA:811 |
Hajdu-Cheney Syndrome |
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Dry skin, Skin ulcer |
ORPHA:955 |
Blau Syndrome |
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Erythema, Papule, Skin rash, Dry skin, Skin ulcer, Erythema nodosum |
ORPHA:90340 |
Parenteral Nutrition-Associated Cholestasis |
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Small for gestational age, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Abnorma... |
ORPHA:567983 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Penetrating foot ulcers |
ORPHA:99956 |
Chime Syndrome |
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Erythema, Skin ulcer |
ORPHA:3474 |
Hermansky-Pudlak Syndrome 2 |
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Recurrent bacterial infections, Chronic oral candidiasis, Recurrent otitis media, Periodontitis, ... |
OMIM:608233 |
Primary Ciliary Dyskinesia |
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Bronchiectasis, Chronic otitis media, Chronic rhinitis, Recurrent sinopulmonary infections, Chron... |
ORPHA:244 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Ecchymosis, Secondary amenorrhea, Oligomenorrhea, Amenorrhea, Acne, Striae distensae, Thin skin, ... |
ORPHA:99889 |
Chromomycosis |
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Keratoconjunctivitis sicca, Recurrent bacterial infections, Keratitis |
ORPHA:182 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Glycogen Storage Disease Ib |
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Recurrent bacterial infections, Hyperlipidemia, Gout, Pancreatitis, Hyperuricemia |
OMIM:232220 |
Oculocerebrorenal Syndrome Of Lowe |
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Atypical scarring of skin, Skin ulcer, Azoospermia |
ORPHA:534 |
Plague |
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Chapped lip, Skin ulcer, Skin rash, Dry skin, Localized skin lesion, Erythema nodosum |
ORPHA:707 |
Atypical Werner Syndrome |
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Secondary amenorrhea, Thin skin, Hypogonadism, Lack of skin elasticity, Premature ovarian insuffi... |
ORPHA:79474 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Recurrent bacterial infections, Inflammation of the large intestine, Hyperlipidemia, Failure to t... |
ORPHA:79259 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Ecchymosis, Skin ulcer, Azoospermia |
ORPHA:2072 |
Aregenerative Anemia |
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Abnormality of interleukin secretion |
ORPHA:101096 |
Chronic Graft Versus Host Disease |
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Intermittent generalized erythematous papular rash, Erythema, Skin ulcer, Skin vesicle |
ORPHA:99921 |
Chediak-Higashi Syndrome |
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Periodontitis, Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyog... |
OMIM:214500 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Inflammatory abnormality of the skin, Atypical scarring of skin, Skin ulcer, Skin rash |
ORPHA:95455 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Recurrent bacterial infections, Eczema, Episcleritis, Cheilitis, Failure to thrive, Recurrent inf... |
ORPHA:2273 |
Sickle Cell Anemia |
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Recurrent bacterial infections |
OMIM:603903 |
Atrial Septal Defect, Coronary Sinus Type |
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Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
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Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
Split Cord Malformation |
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Penetrating foot ulcers, Skin dimple |
ORPHA:573278 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Recurrent aspiration pneumonia, Fasciitis, Septic arthritis, Osteomyelitis, Recurrent Staphylococ... |
ORPHA:642 |