Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
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 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Dissecting Cellulitis Of The Scalp |
|
Edema, Pruritus, Recurrent skin infections |
ORPHA:345 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Lymphatic Malformation 3 |
|
Lymphedema, Recurrent skin infections |
OMIM:613480 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent skin infec... |
ORPHA:499 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... |
ORPHA:79147 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Cutaneous mastocytosis, Pruritus |
ORPHA:280785 |
Chronic Actinic Dermatitis |
|
Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythroderma |
ORPHA:330064 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
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 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Cutaneous abscess, Chronic furunculosis |
OMIM:619986 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613736 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder |
OMIM:617863 |
Pityriasis Rubra Pilaris |
|
Erythroderma, Eczema, Pustule, Pruritus |
ORPHA:2897 |
Pediatric Hepatocellular Carcinoma |
|
Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
Variant Abeta2M Amyloidosis |
|
Cardiac amyloidosis, Hepatic amyloidosis, Amyloidosis of peripheral nerves, Cutaneous amyloidosis... |
ORPHA:314652 |
Amyloidosis, Familial Visceral |
|
Generalized amyloid deposition, Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Generalized amyloid deposition |
OMIM:105120 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Epidermolytic Hyperkeratosis |
|
Erythroderma |
OMIM:113800 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis |
ORPHA:3052 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Ichthyosis Prematurity Syndrome |
|
Erythroderma, Allergic rhinitis, Polyhydramnios, Pruritus |
OMIM:608649 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Eczema, Increased circulating IgE level |
OMIM:147050 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Immunodeficiency 15A |
|
Acne inversa, Recurrent sinusitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Cut... |
OMIM:618204 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Candidiasis, Familial, 8 |
|
Blepharitis, Seborrheic dermatitis |
OMIM:615527 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Recurrent skin infections |
OMIM:618847 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Generalized amyloid deposition |
OMIM:105150 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Amyloidosis |
OMIM:105250 |
Aa Amyloidosis |
|
Amyloidosis, Hepatomegaly, Cholestasis, Renal amyloidosis |
ORPHA:85445 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent skin infections, Atopic dermatitis, Decreased circulat... |
OMIM:618944 |
Epidermodysplasia Verruciformis |
|
Seborrheic dermatitis, Pustule, Recurrent skin infections |
ORPHA:302 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgG level, Recurrent pneumonia, Increased ... |
OMIM:610163 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule |
OMIM:614328 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Chronic oral candidiasis, Decreased circulating IgG level, ... |
ORPHA:169160 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Peeling Skin Syndrome 1 |
|
Erythroderma, Increased circulating IgE level, Pruritus |
OMIM:270300 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Pneumonia |
OMIM:617638 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Amyloidosis, Cutaneous macular amyloidosis |
OMIM:615225 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Perianal abscess |
OMIM:613148 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thin skin, Skin rash |
ORPHA:1658 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Keratitis, Erythroderma, Pruritus |
ORPHA:79394 |
Netherton Syndrome |
|
Decreased circulating IgG level, Hypernatremic dehydration, Allergic rhinitis, Angioedema, Erythr... |
OMIM:256500 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Angioedema, Hepatitis, Tubulointerstit... |
ORPHA:139402 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent skin infections, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis, Pruritus... |
OMIM:618282 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
Pemphigus Foliaceus |
|
Pustule, Crusting erythematous dermatitis, Pruritus, Erythroderma, Psoriasiform dermatitis |
ORPHA:79481 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Pruritus |
OMIM:254400 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Pustule, Septic arthritis |
ORPHA:36237 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma |
ORPHA:1954 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Dehydration, Recurrent pneumonia, Pustule, Edema |
OMIM:616069 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Decreased circu... |
OMIM:619510 |
Acys Amyloidosis |
|
Amyloidosis, Cerebral amyloid angiopathy |
ORPHA:100008 |
Corneodermatoosseous Syndrome |
|
Erythroderma |
OMIM:122440 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... |
OMIM:201475 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Erythroderma, Psoriasiform dermatitis, Recurrent skin infections |
OMIM:615508 |
Chilblain Lupus |
|
Pruritis on hand, Discoid lupus rash, Inflammatory abnormality of the skin, Increased circulating... |
ORPHA:90280 |
Sézary Syndrome |
|
Erythroderma, Edema, Abnormal immunoglobulin level, Pruritus |
ORPHA:3162 |
Lamellar Ichthyosis |
|
Erythroderma, Dehydration, Chronic otitis media, Pruritus |
ORPHA:313 |
Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Atopic dermatitis, Allergic rhinitis, Pruritus, Conjunctivitis |
OMIM:603165 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma |
ORPHA:312 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Acute hepatic failure, Hyperammonemia, Increa... |
ORPHA:71212 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Eczema, Defective T cell proliferation |
OMIM:614493 |
Familial Mediterranean Fever |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Elevated circulating amyloid... |
OMIM:249100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Netherton Syndrome |
|
Skin rash, Dehydration, Eczema, Decreased circulating antibody level, Erythroderma, Increased cir... |
ORPHA:634 |
Immunodeficiency 58 |
|
Colitis, Eczema, Chronic otitis media, Decreased specific antibody response to vaccination, Aller... |
OMIM:618131 |
Idiopathic Trachyonychia |
|
Amyloidosis |
ORPHA:79153 |
Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Hyperlipidemia, Renal interstitial amyloid deposits, Cutaneous amyloidosis, ... |
ORPHA:439232 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Carcinoid Syndrome |
|
Abnormal B-type natriuretic peptide level, Elevated hepatic transaminase, Hepatic necrosis |
ORPHA:100093 |
Elastoderma |
|
Eczema, Erysipelas |
ORPHA:228240 |
Periodic Fever, Familial, Autosomal Dominant |
|
AA amyloidosis, Hepatomegaly, Hepatic amyloidosis |
OMIM:142680 |
Protoporphyria, Erythropoietic, 1 |
|
Edema, Eczema, Pruritus |
OMIM:177000 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Amyloidosis |
OMIM:105210 |
Harlequin Ichthyosis |
|
Erythroderma, Dehydration |
ORPHA:457 |
Omenn Syndrome |
|
Edema, Pruritus, Erythroderma, Pneumonia, Thyroiditis |
ORPHA:39041 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Seborrheic dermatitis, Acne |
OMIM:614441 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Predominantly lower limb lymphedema, Facial edema, Genital edema, Recurrent skin infections, Edem... |
ORPHA:568051 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Punctate keratitis |
OMIM:602540 |
Ichthyosis With Confetti |
|
Erythroderma, Pruritus |
OMIM:609165 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis |
OMIM:121270 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... |
OMIM:300635 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure |
OMIM:231530 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate |
ORPHA:87503 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Chronic o... |
OMIM:606367 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617113 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid arthritis, Inflammatory abnormality of the skin, Pruritus |
ORPHA:79099 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma |
OMIM:604777 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Cholecystitis, Amyloidosis, Elevated hepatic tran... |
ORPHA:781 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma, Increased circulating IgE level |
OMIM:304790 |
Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Recurrent sinusitis, Colitis, Recurrent aphthous stomatitis, Perioral eczema |
OMIM:613960 |
Bleeding Disorder, Platelet-Type, 21 |
|
Eczema, Psoriasiform dermatitis |
OMIM:617443 |
Meige Disease |
|
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... |
ORPHA:90186 |
Autosomal Erythropoietic Protoporphyria |
|
Edema, Eczema, Pruritus |
ORPHA:79278 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased liver function, Hepatomegaly, Hyperam... |
ORPHA:26791 |
Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Peau d'orange, Pruritus |
ORPHA:79456 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Pancolitis, Perianal abscess, Enterocolitis, Folliculitis |
OMIM:612567 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ... |
OMIM:300400 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis |
OMIM:104570 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma |
OMIM:615023 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Colitis, Skin rash, Maculopapular exanthema, Reduced natural killer cell activity, Decreased circ... |
ORPHA:540 |
Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma |
OMIM:609180 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Acne |
OMIM:167100 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr... |
OMIM:231680 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Hypokalemia, Hepatomegaly, Hemobilia, Hyperbilirubinemia,... |
ORPHA:88673 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Amyloidosis, Hepatomegaly, Splenomegaly |
ORPHA:98849 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
Majeed Syndrome |
|
Joint swelling, Osteomyelitis, Inflammatory abnormality of the skin, Skin rash |
OMIM:609628 |
Omenn Syndrome |
|
Erythroderma, Pneumonia |
OMIM:603554 |
Bathing Suit Ichthyosis |
|
Erythroderma |
ORPHA:100976 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Increased circulating IgA level, Increased circulating IgG ... |
ORPHA:169154 |
Bullous Pemphigoid |
|
Eczema, Psoriasiform dermatitis |
ORPHA:703 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Skin rash, Juvenile rheumatoid arthritis, Anterior uveitis, Pleural effusion, Per... |
ORPHA:85414 |
Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... |
ORPHA:324964 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Recurrent pneumonia, Re... |
ORPHA:277 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Inflammation of the large intestine, Decreased circulating antibody level, ... |
OMIM:618108 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Inflammation of the large intestine, Thin skin, Erythroderma |
OMIM:615895 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus |
ORPHA:90158 |
Melkersson-Rosenthal Syndrome |
|
Cheilitis, Inflammatory abnormality of the skin, Edema, Periorbital edema |
ORPHA:2483 |
Pachydermoperiostosis |
|
Joint swelling, Osteomyelitis, Eczematoid dermatitis, Arthritis, Acne, Edema, Seborrheic dermatitis |
ORPHA:2796 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Erythroderma, Conjunctivitis |
OMIM:242150 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Skin rash, Xerostomia, Keratoconjunctivitis sicca, Arthriti... |
OMIM:617321 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Oligohydramnios, Erythroderma |
OMIM:308205 |
Dermatitis Herpetiformis |
|
Edema, Eczema, Pruritus |
ORPHA:1656 |
Biotinidase Deficiency |
|
Seborrheic dermatitis, Conjunctivitis, Skin rash, Recurrent skin infections |
OMIM:253260 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Eczema, Atroph... |
OMIM:616100 |
Letterer-Siwe Disease |
|
Stomatitis, Seborrheic dermatitis |
OMIM:246400 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Erythroderma, Polyhydramnios, Edema |
OMIM:302960 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutaneous amyloidosis |
OMIM:301220 |
Idiopathic Hypereosinophilic Syndrome |
|
Joint swelling, Colitis, Pancreatitis, Inflammatory abnormality of the skin, Eczema, Chronic hepa... |
ORPHA:3260 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Eczematoid dermatitis, Arthritis |
OMIM:259100 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Erythroderma, Decreased circulating antibody level |
OMIM:617425 |
Sapho Syndrome |
|
Osteomyelitis, Pustule, Skin rash, Recurrent skin infections, Palmoplantar pustulosis, Inflammati... |
ORPHA:793 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Erythroderma |
ORPHA:35173 |
Iga Pemphigus |
|
Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Pruritus, Ulce... |
ORPHA:555905 |
Transketolase Deficiency |
|
Uveitis, Conjunctivitis, Seborrheic dermatitis |
ORPHA:488618 |
Acute Liver Failure |
|
Hepatocellular necrosis, Hyperammonemia, Elevated hepatic transaminase, Hepatitis, Hepatic peripo... |
ORPHA:90062 |
Trichothiodystrophy 1, Photosensitive |
|
Erythroderma, Keratoconjunctivitis sicca, Decreased circulating IgG level |
OMIM:601675 |
X-Linked Lymphoproliferative Disease |
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Increased circulating ferritin concentration, Decreased liver function, Splenomegaly, Hepatic fai... |
ORPHA:2442 |
Majeed Syndrome |
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Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Abnormal inflammatory response, Ede... |
ORPHA:77297 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:618504 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Unco... |
OMIM:618278 |
Familial Cold Autoinflammatory Syndrome 1 |
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Elevated circulating C-reactive protein concentration, Renal amyloidosis |
OMIM:120100 |
Rat-Bite Fever |
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Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Endocar... |
ORPHA:31205 |
Blau Syndrome |
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Joint swelling, Cystoid macular edema, Iritis, Eczema, Arthritis, Uveitis, Nongranulomatous uveit... |
OMIM:186580 |
Vexas Syndrome |
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Nasal chondritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Ar... |
OMIM:301054 |
Intellectual Developmental Disorder, X-Linked 107 |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301013 |
Muckle-Wells Syndrome |
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Elevated circulating C-reactive protein concentration, Renal amyloidosis |
OMIM:191900 |
Centrifugal Lipodystrophy |
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Lymphadenitis, Inflammatory abnormality of the skin |
ORPHA:90156 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
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Seborrheic dermatitis |
OMIM:210210 |
Multiple Endocrine Neoplasia, Type Iia |
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Cutaneous lichen amyloidosis |
OMIM:171400 |
Trichothiodystrophy |
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Eczema, Congenital exfoliative erythroderma, Panhypogammaglobulinemia, Keratoconjunctivitis sicca... |
ORPHA:33364 |
Familial Mediterranean Fever, Autosomal Dominant |
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Peritonitis, Renal amyloidosis |
OMIM:134610 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Aspiration pneumonia, Ascites, Seborrheic dermatitis |
OMIM:301072 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Thyroiditis, Eczematoid dermatitis, Gastritis, Colitis, Osteomyelitis, Inflammatory abnormality o... |
ORPHA:37042 |
Monosomy 22 |
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Joint swelling, Seborrheic dermatitis |
ORPHA:96123 |
Graft Versus Host Disease |
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Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic hepatitis, Myositis, Arthr... |
ORPHA:39812 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity |
ORPHA:85327 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity |
OMIM:618314 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Seborrheic dermatitis |
ORPHA:276280 |
Multiple Endocrine Neoplasia Type 2 |
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Neoplasm of the liver, Cutaneous lichen amyloidosis, Hypercalcemia |
ORPHA:653 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Polyhydramnios, Hydrops fetalis, Seborrheic dermatitis |
OMIM:300868 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Eczema, Seborrheic dermatitis |
ORPHA:369950 |
Lysinuric Protein Intolerance |
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Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hepatic failure, Intraa... |
ORPHA:470 |
Thrombocytopenia-Absent Radius Syndrome |
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Edema of the dorsum of feet, Decreased circulating antibody level, Edema of the dorsum of hands, ... |
OMIM:274000 |
Uremic Pruritus |
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Inflammatory abnormality of the skin, Pruritus, Recurrent skin infections |
ORPHA:94059 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Sinusitis, Inflammatory abnormality of the skin, Decreased circulating IgA level, Skin rash, Abse... |
OMIM:102700 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Decreased circulating total IgM, Eczema, Superficial dermal perivascular inflammatory infiltrate,... |
ORPHA:83617 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity |
OMIM:609152 |
22Q11.2 Deletion Syndrome |
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Impaired T cell function, Chronic otitis media, Arthritis, Polyhydramnios, Acne, Seborrheic derma... |
ORPHA:567 |
Attrv122I Amyloidosis |
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Cardiac amyloidosis, Increased circulating NT-proBNP concentration |
ORPHA:85451 |
Muckle-Wells Syndrome |
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Hepatomegaly, Renal amyloidosis, Splenomegaly |
ORPHA:575 |
Inherited Creutzfeldt-Jakob Disease |
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Amyloidosis of peripheral nerves |
ORPHA:282166 |
Igg4-Related Kidney Disease |
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Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Increased circulating IgG1 level... |
ORPHA:449395 |
Malakoplakia |
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Inflammatory abnormality of the skin, Orchitis, Skin rash, Pruritus, Urinary bladder inflammation |
ORPHA:556 |
Digeorge Syndrome |
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Impaired T cell function, Recurrent sinusitis, Acne, Recurrent pneumonia, Recurrent otitis media,... |
OMIM:188400 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Abnormal circulating selenium concentration, Decreased plasma total carnitine, Decreased serum zi... |
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 |