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 |
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 |
|
Hypopigmented macule, Hypermelanotic macule |
OMIM:615402 |
Nevus, Epidermal |
|
Numerous nevi, Melanocytic nevus |
OMIM:162900 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Papule, Erythema, Skin ulcer |
ORPHA:2337 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Erythema, Skin ulcer |
ORPHA:31112 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent skin infections, Disseminated crypto... |
OMIM:614372 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial 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 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph... |
ORPHA:542592 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... |
ORPHA:319552 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... |
OMIM:613953 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Malar rash, Incr... |
ORPHA:90280 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... |
OMIM:613501 |
Juvenile Hyaline Fibromatosis |
|
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:2028 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer |
ORPHA:231 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... |
OMIM:616022 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Increased ci... |
OMIM:605258 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Familial Keratoacanthoma |
|
Papule, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Rec... |
ORPHA:275 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Dry skin |
ORPHA:2584 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Increased circulating IgM level, Recurrent bacterial infections, Recurrent upper an... |
OMIM:608106 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:613502 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:612692 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Acrogeria |
|
Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:2500 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Lichen Planopilaris |
|
Dermal atrophy, Papule, Hypopigmented skin patches, Skin ulcer |
ORPHA:525 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... |
OMIM:240500 |
Pyoderma Gangrenosum |
|
Pustule, Skin ulcer, Atrophic scars, Increased circulating antibody level, Skin vesicle, Papule |
ORPHA:48104 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated circul... |
ORPHA:178320 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... |
ORPHA:572 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent my... |
ORPHA:98813 |
Reticular Dysgenesis |
|
Skin rash, Skin ulcer, Decreased circulating antibody level |
ORPHA:33355 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Increased circulating IgM level, Recurrent bacterial infections, Decreased circulating IgE, Decre... |
OMIM:606843 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating total IgM, Recurrent bacter... |
OMIM:607594 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Increased circulating IgE level, Atopic dermatitis, Skin ulcer |
ORPHA:217390 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Ecz... |
OMIM:619693 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl... |
ORPHA:70578 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Failure to thrive, Skin rash, Pneumonia, A... |
ORPHA:276 |
Brooke-Spiegler Syndrome |
|
Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids |
ORPHA:79493 |
Papa Syndrome |
|
Pustule, Acne, Skin ulcer, Increased circulating antibody level |
ORPHA:69126 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Erythematous plaque, Erythematous papule, Skin ulcer |
ORPHA:86884 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral... |
OMIM:608957 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency 12 |
|
Skin rash, Recurrent viral infections, Bronchiectasis, Cheilitis, Recurrent bacterial infections,... |
OMIM:615468 |
Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... |
ORPHA:183675 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Sepsis, Recurrent candida infections, Hypocalcemic tetany, Opportunistic infection, Ch... |
ORPHA:83471 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... |
OMIM:613496 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent skin infections, Pyoderma gangrenosum, Decreased circulating antibody level |
OMIM:616576 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... |
OMIM:613779 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... |
OMIM:614868 |
Ollier Disease |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:296 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Familial Multiple Nevi Flammei |
|
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule |
ORPHA:624 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C-reactive protein concent... |
OMIM:618048 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... |
ORPHA:331235 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Erythroderma |
ORPHA:312 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Leishmaniasis |
|
Skin ulcer, Increased circulating antibody level, Pallor, Skin plaque, Papule |
ORPHA:507 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE level, Recurrent pneumon... |
OMIM:147060 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Brain abscess, Increased circulating interleukin 6 concentration, Pneumonia, Myocar... |
ORPHA:544482 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level |
ORPHA:169079 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... |
ORPHA:2688 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer |
ORPHA:229717 |
Polyarteritis Nodosa |
|
Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:767 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Pyoderma gangrenosum, Acne |
OMIM:604416 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Dysgammaglobulinemia, Increased circulating IgA level, Meningitis, Sepsis, Hep... |
OMIM:308230 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin rash, Eczema, Pruritus, Increased circulating IgE level, Skin ulcer, Skin vesicle, Papule |
ORPHA:2314 |
Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer,... |
ORPHA:742 |
Immunodeficiency 84 |
|
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Skin rash, Hypopigmented skin patches, Skin ulcer, Agammag... |
ORPHA:47 |
Prolidase Deficiency |
|
Eczema, Crusting erythematous dermatitis, Skin ulcer, Increased circulating antibody level, Petec... |
OMIM:170100 |
Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... |
OMIM:608184 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Recurrent ... |
ORPHA:911 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Flynn-Aird Syndrome |
|
Dermal atrophy, Skin ulcer |
ORPHA:2047 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Skin rash, Recurrent viral infections, Lymphadenitis, Decreased circulating an... |
ORPHA:331206 |
Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Skin rash, Pruritus, Erythema, Skin ulcer, Papule |
ORPHA:1334 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media |
OMIM:300455 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, ... |
OMIM:606367 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... |
ORPHA:90186 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:1657 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Persistent ... |
OMIM:616005 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Takayasu Arteritis |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:3287 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Free Sialic Acid Storage Disease |
|
Skin ulcer |
ORPHA:834 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc... |
OMIM:613179 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Pruritus, Or... |
ORPHA:556 |
Neutrophilic Dermatosis, Acute Febrile |
|
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa |
OMIM:608068 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Dermal atrophy, Scaling skin, Skin ulcer |
ORPHA:454831 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... |
ORPHA:48435 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Skin ulcer, Skin fissure |
ORPHA:659 |
Infantile Myofibromatosis |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:2591 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum, Chronic oral candidiasis |
OMIM:150550 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Recurrent sta... |
OMIM:615816 |
Reynolds Syndrome |
|
Pruritus, Skin rash, Skin ulcer |
ORPHA:779 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Pgm3-Cdg |
|
Recurrent viral infections, Sepsis, Increased circulating IgG level, Chronic otitis media, Membra... |
ORPHA:443811 |
Cryoglobulinemic Vasculitis |
|
Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Failure to t... |
OMIM:617475 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Failure to thrive, Sinusitis, Inflammatory abnormality of the ... |
OMIM:102700 |
Chronic Granulomatous Disease |
|
Macule, Eczema, Hypermelanotic macule, Skin ulcer |
ORPHA:379 |
Werner Syndrome |
|
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Secondary amenorrhea, Skin ulcer, Decrea... |
ORPHA:902 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, A... |
ORPHA:542643 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... |
ORPHA:486 |
Omenn Syndrome |
|
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... |
OMIM:603554 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Severe cytomegalovirus infection, Increase... |
OMIM:300291 |
Adult Syndrome |
|
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus |
ORPHA:978 |
Microscopic Polyangiitis |
|
Erythema, Subcutaneous nodule, Skin rash, Skin ulcer |
ORPHA:727 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... |
ORPHA:169090 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Acrodermatitis Enteropathica |
|
Pustule, Erythema, Dry skin, Skin ulcer |
ORPHA:37 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema |
OMIM:300299 |
Idiopathic Bronchiectasis |
|
Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia... |
ORPHA:60033 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease |
OMIM:609536 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233710 |
Vitreoretinochoroidopathy |
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Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Immunoglobulin A Vasculitis |
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Macule, Skin rash, Pustule, Orchitis, Erythema, Skin ulcer, Purpura |
ORPHA:761 |
Hereditary Spherocytosis |
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Maculopapular exanthema, Pallor, Skin ulcer |
ORPHA:822 |
Whim Syndrome |
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Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... |
ORPHA:542323 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233690 |
Hereditary Acrokeratotic Poikiloderma |
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Eczema, Pustule, Erythema, Hypopigmented skin patches, Skin ulcer, Thin skin, Papule |
ORPHA:2907 |
Diffuse Cutaneous Systemic Sclerosis |
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Dyspareunia, Skin ulcer |
ORPHA:220393 |
Ectodermal Dysplasia-Blindness Syndrome |
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Skin ulcer |
ORPHA:1806 |
Juvenile Dermatomyositis |
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Skin rash, Pruritus, Erythema, Skin ulcer, Dry skin |
ORPHA:93672 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Urticarial plaque, Skin rash, Eczema, Erythema nodosum, Skin ulcer, Decreased circulating antibod... |
OMIM:615688 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
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Recurrent bacterial infections |
OMIM:610738 |
Beta-Thalassemia Intermedia |
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Hypogonadism, Pallor, Skin ulcer |
ORPHA:231222 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Recurrent ... |
ORPHA:221139 |
Infantile Systemic Hyalinosis |
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Subcutaneous nodule, Skin ulcer |
ORPHA:2176 |
Fusariosis |
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Maculopapular exanthema, Subcutaneous nodule, Skin ulcer, Skin detachment, Papule |
ORPHA:228119 |
Dyskeratosis Congenita |
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Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Hypopigmented skin patches, Skin u... |
ORPHA:1775 |
Cushing Disease |
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Acne, Amenorrhea, Skin ulcer, Recurrent cutaneous fungal infections, Secondary amenorrhea, Thin s... |
ORPHA:96253 |
Blau Syndrome |
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Erythema nodosum, Eczema, Intermittent generalized erythematous papular rash, Skin ulcer |
OMIM:186580 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Elevated circulating creatine kinase concentration, Eczema, Lymphadenitis, Recurrent bacterial in... |
OMIM:615895 |
Systemic Sclerosis |
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Recurrent skin infections, Cutaneous sclerotic plaque, Digital pitting scar, Pruritus, Spotty hyp... |
ORPHA:90291 |
Simple Cryoglobulinemia |
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Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Localized skin lesion, Para... |
ORPHA:91139 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
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Acral ulceration |
OMIM:201300 |
X-Linked Severe Congenital Neutropenia |
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Recurrent bacterial infections |
ORPHA:86788 |
Incontinentia Pigmenti |
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Erythema, Skin rash, Hypopigmented skin patches, Skin ulcer |
ORPHA:464 |
Catastrophic Antiphospholipid Syndrome |
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Skin ulcer |
ORPHA:464343 |
Hypocomplementemic Urticarial Vasculitis |
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Episcleritis, Skin rash, Uveitis, Inflammatory abnormality of the eye, Recurrent bacterial infect... |
ORPHA:36412 |
Giant Cell Arteritis |
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Skin ulcer |
ORPHA:397 |
Leukocyte Adhesion Deficiency, Type Iii |
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Recurrent bacterial infections, Recurrent skin infections, Sepsis |
OMIM:612840 |
Dominant Beta-Thalassemia |
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Pallor, Skin ulcer |
ORPHA:231226 |
Mirage Syndrome |
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Hyponatremia, Recurrent urinary tract infections, Hyperkalemia, Sepsis, Recurrent bacterial infec... |
OMIM:617053 |
Immunodeficiency 47 |
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Decreased circulating copper concentration, Decreased circulating antibody level, Decreased circu... |
OMIM:300972 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
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Acral ulceration |
OMIM:256840 |
Amoebiasis Due To Free-Living Amoebae |
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Unusual skin infection, Pustule, Subcutaneous nodule, Skin ulcer, Papule |
ORPHA:68 |
Wiskott-Aldrich Syndrome |
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Eczema, Abnormality of the menstrual cycle, Skin ulcer, Abnormal platelet function, Petechiae, Pu... |
ORPHA:906 |
Dermatomyositis |
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Aplasia/Hypoplasia of the skin, Pruritus, Erythema, Skin ulcer, Dry skin, Papule |
ORPHA:221 |
Immunodeficiency 10 |
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Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Lysinuric Protein Intolerance |
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Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Abnormal circulating serin... |
ORPHA:470 |
Toxic Epidermal Necrolysis |
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Macule, Erythema, Skin ulcer |
ORPHA:537 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
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Acral ulceration |
OMIM:608654 |
Immunodeficiency 21 |
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Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec... |
OMIM:614172 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Subcutaneous nodule, Skin ulcer, Scaling skin, Dry skin, Erysipelas |
ORPHA:2526 |
Parkes Weber Syndrome |
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Erythematous plaque, Capillary malformation, Scaling skin, Skin ulcer |
ORPHA:90307 |
Granulomatous Disease, Chronic, X-Linked |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:306400 |
Beta-Thalassemia Major |
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Pallor, Skin ulcer |
ORPHA:231214 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... |
ORPHA:247691 |
Primary Sjögren Syndrome |
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Erythema nodosum, Skin ulcer, Decreased circulating antibody level, Increased circulating antibod... |
ORPHA:289390 |
Vici Syndrome |
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Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive, Elevated ci... |
OMIM:242840 |
Granulomatosis With Polyangiitis |
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Skin rash, Skin ulcer, Prostatitis, Papule, Purpura |
ORPHA:900 |
Kenny-Caffey Syndrome, Type 1 |
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Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Granulomatosis With Polyangiitis |
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Skin ulcer |
OMIM:608710 |
Adenocarcinoma Of The Anal Canal |
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Skin ulcer |
ORPHA:424016 |
Chédiak-Higashi Syndrome |
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Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc... |
ORPHA:167 |
Congenital Disorder Of Glycosylation, Type Iif |
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Recurrent bacterial infections |
OMIM:603585 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a... |
OMIM:612541 |
Leprosy |
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Urticarial plaque, Hypopigmented macule, Skin nodule, Penetrating foot ulcers, Verrucous papule, ... |
ORPHA:548 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Mannosidosis, Alpha B, Lysosomal |
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Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Blau Syndrome |
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Skin rash, Erythema nodosum, Erythema, Skin ulcer, Dry skin, Papule |
ORPHA:90340 |
Immunodeficiency 87 And Autoimmunity |
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Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Necrotizing enterocolitis, E... |
OMIM:619573 |
Atypical Werner Syndrome |
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Premature ovarian insufficiency, Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Skin ul... |
ORPHA:79474 |
Hajdu-Cheney Syndrome |
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Dry skin, Skin ulcer |
ORPHA:955 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
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 |
Shwachman-Diamond Syndrome |
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Sinusitis, Skin rash, Eczema, Pneumonia, Recurrent viral infections, Osteomyelitis, Sepsis, Hypoa... |
ORPHA:811 |
Primary Ciliary Dyskinesia |
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Recurrent sinopulmonary infections, Recurrent mycobacterial infections, Bronchiectasis, Chronic r... |
ORPHA:244 |
Oculocerebrorenal Syndrome Of Lowe |
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Atypical scarring of skin, Cryptorchidism, Azoospermia, Skin ulcer |
ORPHA:534 |
Parenteral Nutrition-Associated Cholestasis |
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Small for gestational age, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concent... |
ORPHA:567983 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Acral ulceration |
OMIM:256800 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Acne, Amenorrhea, Skin ulcer, Recurrent cutaneous fungal infections, Secondary amenorrhea, Thin s... |
ORPHA:99889 |
Plague |
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Chapped lip, Skin rash, Erythema nodosum, Localized skin lesion, Skin ulcer, Dry skin |
ORPHA:707 |
Chromomycosis |
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Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca |
ORPHA:182 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Hermansky-Pudlak Syndrome 2 |
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Recurrent pneumonia, Recurrent bacterial infections, Periodontitis, Recurrent abscess formation, ... |
OMIM:608233 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Hyperlipidemia, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Recur... |
ORPHA:79259 |
Glycogen Storage Disease Ib |
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Hyperlipidemia, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Hyperu... |
OMIM:232220 |
Cystic Fibrosis |
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Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... |
ORPHA:586 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Ecchymosis, Azoospermia, Skin ulcer |
ORPHA:2072 |
Aregenerative Anemia |
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Abnormality of interleukin secretion |
ORPHA:101096 |
Primary Sclerosing Cholangitis |
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Recurrent systemic pyogenic infections, Hepatitis, Uveitis, Weight loss, Polyclonal elevation of ... |
ORPHA:171 |
Chronic Graft Versus Host Disease |
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Skin vesicle, Erythema, Intermittent generalized erythematous papular rash, Skin ulcer |
ORPHA:99921 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Atypical scarring of skin, Inflammatory abnormality of the skin, Skin rash, Skin ulcer |
ORPHA:95455 |
Chediak-Higashi Syndrome |
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Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Periodontitis, Recur... |
OMIM:214500 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Acral ulceration |
OMIM:256810 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... |
ORPHA:2273 |
Atrial Septal Defect, Coronary Sinus Type |
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Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
Split Cord Malformation |
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Skin dimple, Penetrating foot ulcers |
ORPHA:573278 |
Sickle Cell Disease |
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Recurrent bacterial infections |
OMIM:603903 |
Atrial Septal Defect, Ostium Secundum Type |
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Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Recurrent Staphylococcus aureus infections, Septic arthritis, Recurrent... |
ORPHA:642 |