Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis |
OMIM:613737 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Dissecting Cellulitis Of The Scalp |
|
Edema, Pruritus, Recurrent skin infections |
ORPHA:345 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... |
OMIM:613953 |
Benign Cephalic Histiocytosis |
|
Skin rash, Inflammatory abnormality of the skin |
ORPHA:157997 |
Lymphatic Malformation 3 |
|
Lymphedema, Recurrent skin infections |
OMIM:613480 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Kerion Celsi |
|
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... |
ORPHA:499 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... |
OMIM:231100 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Allergic rhinitis, Eczema, Erythroderma, Pruritus |
ORPHA:330064 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
Myeloma, Multiple |
|
Amyloidosis |
OMIM:254500 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... |
ORPHA:33402 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis |
OMIM:613736 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Pityriasis Rubra Pilaris |
|
Pustule, Pruritus, Eczema, Erythroderma |
ORPHA:2897 |
Variant Abeta2M Amyloidosis |
|
Cutaneous amyloidosis, Amyloidosis of peripheral nerves, Cardiac amyloidosis, Renal amyloidosis, ... |
ORPHA:314652 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Generalized amyloid deposition, Cholestasis, Hepatomegaly |
OMIM:105200 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Generalized amyloid deposition |
OMIM:105120 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythematous dermatitis, Pruritu... |
ORPHA:79147 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Amyloidosis |
OMIM:105250 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Chronic oral candidiasis, Cheilitis, Blepharitis |
OMIM:615527 |
Epidermolytic Hyperkeratosis |
|
Erythroderma |
OMIM:113800 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Hepatic b... |
ORPHA:139507 |
Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Pruritus, Erythroderma, Allergic rhinitis |
OMIM:608649 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency 15A |
|
Acne inversa, Cutaneous abscess, Recurrent otitis media, Recurrent sinusitis, Chronic mucocutaneo... |
OMIM:618204 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Generalized amyloid deposition |
OMIM:105150 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Recurrent skin infections |
OMIM:618847 |
Aa Amyloidosis |
|
Renal amyloidosis, Amyloidosis, Cholestasis, Hepatomegaly |
ORPHA:85445 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased circulating total IgM, Cutaneous abscess, Recurrent otitis media, Recurrent skin infect... |
OMIM:618944 |
Epidermodysplasia Verruciformis |
|
Pustule, Seborrheic dermatitis, Recurrent skin infections |
ORPHA:302 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:610163 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Blepharitis, Increased circulating IgE level, Erythroderma |
OMIM:614328 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis |
OMIM:619693 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Increased circulating antibody level, Hepatitis, Decreased circulating ... |
ORPHA:169160 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
Peeling Skin Syndrome 1 |
|
Pruritus, Increased circulating IgE level, Erythroderma |
OMIM:270300 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level |
OMIM:300988 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis |
OMIM:613148 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Angioedema, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumon... |
ORPHA:139402 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Keratitis, Pruritus, Erythroderma |
ORPHA:79394 |
Netherton Syndrome |
|
Hypernatremic dehydration, Allergic rhinitis, Erythroderma, Angioedema, Increased circulating IgE... |
OMIM:256500 |
Pemphigus Foliaceus |
|
Pruritus, Crusting erythematous dermatitis, Pustule, Erythroderma, Psoriasiform dermatitis |
ORPHA:79481 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Skin rash, Thin skin |
ORPHA:1658 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Amyloidosis, Cutaneous macular amyloidosis |
OMIM:615225 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Pruritus, Eczema |
OMIM:254400 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent skin infections, Psoriasiform dermatitis, Erythroderma |
OMIM:615508 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma |
ORPHA:1954 |
Bullous Impetigo |
|
Septic arthritis, Recurrent bacterial skin infections, Pustule |
ORPHA:36237 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Decreased circulating total IgM, Eczema, Decreased circulating IgE, Decreased cir... |
OMIM:619510 |
Acys Amyloidosis |
|
Cerebral amyloid angiopathy, Amyloidosis |
ORPHA:100008 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Decreased plasma carnitine, Elevated circulating cr... |
OMIM:201475 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
Sézary Syndrome |
|
Abnormal immunoglobulin level, Edema, Pruritus, Erythroderma |
ORPHA:3162 |
Lamellar Ichthyosis |
|
Dehydration, Pruritus, Chronic otitis media, Erythroderma |
ORPHA:313 |
Chilblain Lupus |
|
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash... |
ORPHA:90280 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas... |
ORPHA:71212 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Agitation |
OMIM:619970 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma |
ORPHA:312 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Amyloidosis, Cholangiocarcinoma, Elevated hepat... |
ORPHA:171 |
Dermatitis, Atopic |
|
Conjunctivitis, Allergic rhinitis, Eczema, Recurrent skin infections, Pruritus, Atopic dermatitis |
OMIM:603165 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Familial Mediterranean Fever |
|
Peritonitis, Amyloidosis, Elevated circulating C-reactive protein concentration, Hepatomegaly, Re... |
OMIM:249100 |
Netherton Syndrome |
|
Decreased circulating antibody level, Skin rash, Eczema, Erythroderma, Dehydration, Increased cir... |
ORPHA:634 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Immunodeficiency 58 |
|
Molluscum contagiosum, Recurrent aphthous stomatitis, Decreased T cell activation, Bronchiectasis... |
OMIM:618131 |
Idiopathic Trachyonychia |
|
Amyloidosis |
ORPHA:79153 |
Aapoaiv Amyloidosis |
|
Renal interstitial amyloid deposits, Cutaneous amyloidosis, Cardiac amyloidosis, Hyperlipidemia, ... |
ORPHA:439232 |
Carcinoid Syndrome |
|
Hepatic necrosis, Elevated hepatic transaminase, Abnormal B-type natriuretic peptide concentration |
ORPHA:100093 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Agitation |
OMIM:309548 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatic amyloidosis, AA amyloidosis, Hepatomegaly |
OMIM:142680 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Elastoderma |
|
Eczema, Erysipelas |
ORPHA:228240 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Amyloidosis |
OMIM:105210 |
Omenn Syndrome |
|
Thyroiditis, Edema, Erythroderma, Pruritus, Pneumonia |
ORPHA:39041 |
Protoporphyria, Erythropoietic, 1 |
|
Edema, Pruritus, Eczema |
OMIM:177000 |
Harlequin Ichthyosis |
|
Dehydration, Erythroderma |
ORPHA:457 |
Ichthyosis With Confetti |
|
Pruritus, Erythroderma |
OMIM:609165 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Seborrheic dermatitis, Acne |
OMIM:614441 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Erythroderma |
OMIM:602540 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis |
OMIM:121270 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure |
OMIM:231530 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Pedal edema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Recurrent skin in... |
ORPHA:568051 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Thyroiditis, Eczema, Decreased circulating IgA level, Erythroderma, Pso... |
OMIM:606367 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness |
OMIM:605899 |
Mal De Meleda |
|
Superficial dermal perivascular inflammatory infiltrate, Inflammatory abnormality of the skin |
ORPHA:87503 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level, Inflammatory abnormality of the skin |
ORPHA:90159 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent sinusitis, Eczema, Recurrent o... |
OMIM:618282 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum |
OMIM:615214 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma |
OMIM:604777 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Arthritis, Eczema, Glomerulonephritis, Erythroderma, Increased circulating IgE level |
OMIM:304790 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated hepatic tr... |
ORPHA:26791 |
Q Fever |
|
Abnormality of the liver, Hepatitis, Amyloidosis, Elevated hepatic transaminase, Hepatosplenomega... |
ORPHA:781 |
Meige Disease |
|
Recurrent bacterial skin infections, Pedal edema, Lymphedema, Edema of the dorsum of hands, Predo... |
ORPHA:90186 |
Diffuse Cutaneous Mastocytosis |
|
Pruritus, Peau d'orange, Erythroderma |
ORPHA:79456 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis |
OMIM:104570 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma |
OMIM:615023 |
Autosomal Erythropoietic Protoporphyria |
|
Edema, Pruritus, Eczema |
ORPHA:79278 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Pancolitis, Enterocolitis, Perianal abscess, Folliculitis |
OMIM:612567 |
Hepatocellular Carcinoma |
|
Abnormality of the liver, Liver abscess, Hepatic necrosis, Jaundice, Hypokalemia, Elevated hepati... |
ORPHA:88673 |
Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Arthritis, Myositis, Pustule, Increased in... |
ORPHA:69126 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Erythroderma, Reduced natural killer cell activity, Decreased circulating antibody level, Skin ra... |
ORPHA:540 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Acne |
OMIM:167100 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Hepatic steatosis, Elevated circulating glutaric acid concentration, Hepatomegaly, Hepa... |
OMIM:231680 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Amyloidosis, Splenomegaly, Hepatomegaly |
ORPHA:98849 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... |
OMIM:256810 |
Majeed Syndrome |
|
Skin rash, Osteomyelitis, Joint swelling, Inflammatory abnormality of the skin |
OMIM:609628 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Increased circulating IgE level, Increased circulating IgA ... |
ORPHA:169154 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema |
ORPHA:703 |
Bathing Suit Ichthyosis |
|
Erythroderma |
ORPHA:100976 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Skin rash, Pericarditis, Pleural effusion, Joint swelling, Anterio... |
ORPHA:85414 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Thin skin, Eczema, Inflammation of the large intestine, Erythroderma |
OMIM:615895 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Pruritus, Skin rash, Arthritis, Inflammation of the large intestine, Edema, Psoria... |
ORPHA:324964 |
Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Skin rash, Inflammation o... |
OMIM:618108 |
Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:90158 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Melkersson-Rosenthal Syndrome |
|
Edema, Periorbital edema, Cheilitis, Inflammatory abnormality of the skin |
ORPHA:2483 |
Pachydermoperiostosis |
|
Osteomyelitis, Arthritis, Edema, Joint swelling, Eczematoid dermatitis, Seborrheic dermatitis, Acne |
ORPHA:2796 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Erythroderma |
OMIM:242150 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Inflammatory abnormality of the skin, Recurrent otitis media, Recurrent ... |
ORPHA:277 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Arthritis, Skin rash, Keratoconjunctivitis sicca, Pericardi... |
OMIM:617321 |
Biotinidase Deficiency |
|
Conjunctivitis, Skin rash, Seborrheic dermatitis, Recurrent skin infections |
OMIM:253260 |
Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma |
OMIM:609180 |
Letterer-Siwe Disease |
|
Stomatitis, Seborrheic dermatitis |
OMIM:246400 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Edema, Erythroderma |
OMIM:302960 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutaneous amyloidosis |
OMIM:301220 |
Sapho Syndrome |
|
Osteomyelitis, Enthesitis, Skin rash, Arthritis, Synovitis, Inflammation of the large intestine, ... |
ORPHA:793 |
Idiopathic Hypereosinophilic Syndrome |
|
Angioedema, Erythroderma, Inflammatory abnormality of the skin, Arthritis, Eczema, Cholangitis, P... |
ORPHA:3260 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Arthritis, Seborrheic dermatitis |
OMIM:259100 |
Omenn Syndrome |
|
Pneumonia, Erythroderma |
OMIM:603554 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level, Erythroderma |
OMIM:617425 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Hepatic necrosis, Cirrhosis |
OMIM:127550 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Erythroderma |
ORPHA:35173 |
Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Decreased circulating IgG level, Erythroderma |
OMIM:601675 |
Acute Liver Failure |
|
Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, Elevated hepatic transaminase, Hy... |
ORPHA:90062 |
Majeed Syndrome |
|
Osteomyelitis, Inflammatory abnormality of the skin, Synovitis, Pustule, Edema, Abnormal inflamma... |
ORPHA:77297 |
X-Linked Lymphoproliferative Disease |
|
Hepatic failure, Fulminant hepatitis, Hepatic necrosis, Elevated hepatic transaminase, Hepatosple... |
ORPHA:2442 |
Transketolase Deficiency |
|
Conjunctivitis, Seborrheic dermatitis, Uveitis |
ORPHA:488618 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hepatocellular necrosis, Unconjugated hyperbilirubinemia, Hepat... |
OMIM:618278 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Renal amyloidosis, Elevated circulating C-reactive protein concentration |
OMIM:120100 |
Muckle-Wells Syndrome |
|
Renal amyloidosis, Elevated circulating C-reactive protein concentration |
OMIM:191900 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Arthritis, Neutrophilic infiltration of the skin, Nasal cho... |
OMIM:301054 |
Blau Syndrome |
|
Erythema nodosum, Iritis, Arthritis, Synovitis, Eczema, Uveitis, Pericarditis, Nongranulomatous u... |
OMIM:186580 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Inflammatory abnormality of the skin |
ORPHA:90156 |
Multiple Endocrine Neoplasia, Type Iia |
|
Cutaneous lichen amyloidosis |
OMIM:171400 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Seborrheic dermatitis |
OMIM:210210 |
Trichothiodystrophy |
|
Conjunctivitis, Panhypogammaglobulinemia, Keratoconjunctivitis sicca, Eczema, Congenital exfoliat... |
ORPHA:33364 |
Familial Mediterranean Fever, Autosomal Dominant |
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Renal amyloidosis, Peritonitis |
OMIM:134610 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Ascites, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Monosomy 22 |
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Joint swelling, Seborrheic dermatitis |
ORPHA:96123 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Tubulointerstitial nephritis, Osteomyelitis, Crusting erythematous dermatitis, Hepatitis, Inflamm... |
ORPHA:37042 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Eczema, Seborrheic dermatitis |
ORPHA:369950 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Seborrheic dermatitis |
ORPHA:276280 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Polyhydramnios, Hydrops fetalis, Seborrheic dermatitis |
OMIM:300868 |
Multiple Endocrine Neoplasia Type 2 |
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Neoplasm of the liver, Hypercalcemia, Cutaneous lichen amyloidosis |
ORPHA:653 |
Thrombocytopenia-Absent Radius Syndrome |
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Edema of the dorsum of hands, Edema of the dorsum of feet, Seborrheic dermatitis, Decreased circu... |
OMIM:274000 |
Lysinuric Protein Intolerance |
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Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Increased ... |
ORPHA:470 |
Uremic Pruritus |
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Recurrent skin infections, Pruritus, Inflammatory abnormality of the skin |
ORPHA:94059 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Decreased circulating total IgM, Eczema, Superficial dermal perivascular inflammatory infiltrate,... |
ORPHA:83617 |
22Q11.2 Deletion Syndrome |
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Polyhydramnios, Arthritis, Impaired T cell function, Chronic otitis media, Seborrheic dermatitis,... |
ORPHA:567 |
Muckle-Wells Syndrome |
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Renal amyloidosis, Splenomegaly, Hepatomegaly |
ORPHA:575 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Decreased circulating total IgM, Inflammatory abnormality of the skin, Skin rash, Absent specific... |
OMIM:102700 |
Attrv122I Amyloidosis |
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Cardiac amyloidosis, Increased circulating NT-proBNP concentration |
ORPHA:85451 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Erythroderma, Hydromyelia, Eczema, Oligohydramnios, Recurrent skin infections, Keratitis |
OMIM:308205 |
Inherited Creutzfeldt-Jakob Disease |
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Amyloidosis of peripheral nerves |
ORPHA:282166 |
Digeorge Syndrome |
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Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Impaired T cell function, Sebor... |
OMIM:188400 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Abnormal circulating selenium concentration, Renal amyloidosis, Decreased serum zinc, Decreased p... |
ORPHA:79408 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
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Glomerulonephritis |
ORPHA:69063 |
Spinocerebellar Ataxia Type 43 |
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ORPHA:497764 |
Spinocerebellar Ataxia 43 |
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OMIM:617018 |
Charcot-Marie-Tooth Disease, Axonal, Type 2T |
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OMIM:617017 |