Candidiasis, Familial, 6 |
|
Chronic mucocutaneous candidiasis |
OMIM:613956 |
Lymphoblastic Transformation, Intrinsic Defect In |
|
Chronic mucocutaneous candidiasis |
OMIM:247450 |
Lymphoblastic Transformation, Inhibition Of |
|
Chronic mucocutaneous candidiasis |
OMIM:247430 |
Lymphokine Deficiency |
|
Chronic mucocutaneous candidiasis |
OMIM:247650 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
Ulerythema Ophryogenesis |
|
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... |
ORPHA:3406 |
Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Dry skin, Ichthyosis |
OMIM:146700 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus |
ORPHA:737 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital b... |
OMIM:607602 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... |
ORPHA:79395 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop... |
ORPHA:530838 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis |
ORPHA:3052 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... |
ORPHA:498359 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Bazex Syndrome |
|
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigri... |
ORPHA:166113 |
Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem... |
OMIM:603165 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly |
OMIM:212360 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis, Erythema |
ORPHA:83453 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk... |
ORPHA:100976 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle |
ORPHA:158681 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin |
ORPHA:2584 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Erythema, Oligoarthritis |
OMIM:614204 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... |
ORPHA:312 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Allergic rhinitis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... |
OMIM:300918 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:2271 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... |
ORPHA:90280 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... |
ORPHA:87503 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i... |
OMIM:615508 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
Huriez Syndrome |
|
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly |
ORPHA:384 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa |
OMIM:617337 |
Erythrokeratodermia Variabilis |
|
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin |
ORPHA:317 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:618204 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Pruritus, Sclerosing cholangitis, Ichthyosis, Orthokeratosis, Dry skin |
OMIM:607626 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hy... |
OMIM:308800 |
Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Dry skin, Ichthyosis |
ORPHA:1954 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Cutis laxa, Crusting erythematous dermatitis |
ORPHA:79148 |
Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Erythroderma, Chronic otitis media... |
ORPHA:313 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... |
OMIM:616295 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema |
ORPHA:703 |
Immunodeficiency 18 |
|
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Sjögren-Larsson Syndrome |
|
Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye |
ORPHA:816 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus, Dry skin |
OMIM:617920 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Eczema, Pruritus, Palmoplantar keratoderma, Dry skin, Blepharitis |
OMIM:618535 |
Atrophoderma Vermiculata |
|
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
C1Q Deficiency 3 |
|
Discoid lupus rash |
OMIM:620322 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis |
ORPHA:254478 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Follicular hyperkeratosis |
ORPHA:69125 |
Netherton Syndrome |
|
Parakeratosis, Recurrent skin infections, Eczema, Allergic rhinitis, Congenital nonbullous ichthy... |
OMIM:256500 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume |
OMIM:617443 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79399 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis, Ichthyosis |
OMIM:616834 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Recurrent sinusitis, Decreased proportion of class-switched memory B cells |
OMIM:617765 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis |
ORPHA:89838 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin |
OMIM:612379 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis |
ORPHA:455 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... |
ORPHA:2897 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the... |
ORPHA:324964 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure... |
ORPHA:436159 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmo... |
OMIM:602540 |
Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Generalized keratosis follicularis, Eczema, Dry skin |
ORPHA:2890 |
Epidermolytic Hyperkeratosis 1 |
|
Scaling skin, Erythroderma, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythro... |
OMIM:113800 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... |
OMIM:257980 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... |
OMIM:614457 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Dry skin |
OMIM:224750 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Neutropenia |
OMIM:300988 |
Phenylketonuria |
|
Scleroderma, Dry skin, Eczema |
OMIM:261600 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Lichen Planopilaris |
|
Pruritus, Hyperkeratosis, Hepatitis, Skin ulcer |
ORPHA:525 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma |
OMIM:609180 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea |
ORPHA:90158 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyperkeratosis |
OMIM:615225 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... |
OMIM:608971 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
Darier Disease |
|
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... |
ORPHA:218 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Dermoodontodysplasia |
|
Dry skin |
OMIM:125640 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
Chilblain Lupus 1 |
|
Chilblains, Skin ulcer |
OMIM:610448 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis |
ORPHA:231 |
Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... |
ORPHA:2199 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Atopic dermatiti... |
OMIM:618282 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Ulcerative colitis, Skin ... |
ORPHA:555905 |
Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
Dermatofibrosarcoma Protuberans |
|
Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
Sézary Syndrome |
|
Pruritus, Palmoplantar keratoderma, Dry skin, Erythroderma |
ORPHA:3162 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Dry skin, Ichthyosis |
OMIM:610768 |
Prolidase Deficiency |
|
Pruritus, Crusting erythematous dermatitis, Erythema, Skin ulcer, Hyperkeratosis, Palmoplantar ke... |
ORPHA:742 |
Leopard Syndrome 3 |
|
Hyperkeratosis, Dry skin, Webbed neck, Epidermal hyperkeratosis |
OMIM:613707 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash |
ORPHA:163525 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Psoriasifor... |
ORPHA:37042 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... |
ORPHA:793 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Aicardi-Goutieres Syndrome 5 |
|
Scaling skin, Dry skin, Chilblains |
OMIM:612952 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Dowling-Degos Disease |
|
Pruritus, Hyperkeratosis, Arthritis, Skin vesicle, Hyperkeratotic papule, Acne inversa |
ORPHA:79145 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca, Follicular hyperke... |
OMIM:617388 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
Chromomycosis |
|
Keratitis, Pruritus, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Hyperkeratot... |
ORPHA:182 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis |
OMIM:147050 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Redundant skin |
OMIM:301021 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Erythroderma, Hypergranulosis, Ichthyosis |
OMIM:615022 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
Netherton Syndrome |
|
Skin rash, Eczema, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ac... |
ORPHA:634 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
ORPHA:2200 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma |
OMIM:608649 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent otitis media, Recurrent sinusitis, Psoriasiform dermatitis, Recurrent pneumonia |
OMIM:615577 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop... |
ORPHA:293173 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia |
OMIM:614493 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Eczema, Hyperkeratosis, Keratoconjunctivitis sicca, Thin skin, Dry skin, Inflammatory ... |
ORPHA:238468 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera... |
ORPHA:79501 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Hyperkeratosis |
OMIM:618625 |
Ichthyosis With Confetti |
|
Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosif... |
OMIM:609165 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Plantar hyperkeratosis |
OMIM:616487 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Psoriasiform lesion, Pruritus, Iridocycliti... |
ORPHA:85436 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... |
ORPHA:294023 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Septic arthritis |
ORPHA:36237 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, Hyperkeratosis |
ORPHA:1334 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Acute lymphoblastic leukemia, Chronic sinusitis, Thrombocy... |
OMIM:606593 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Orthokeratosis |
OMIM:308050 |
Omenn Syndrome |
|
Pneumonia, Pruritus, Thickened skin, Thyroiditis, Erythroderma, Dry skin |
ORPHA:39041 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
Chronic Recurrent Multifocal Osteomyelitis 3 |
|
Palmoplantar pustulosis, Osteomyelitis |
OMIM:259680 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali... |
ORPHA:454831 |
Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema |
OMIM:618116 |
Darier-White Disease |
|
Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash |
OMIM:619175 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis |
ORPHA:457 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Atopic dermatitis, Decreased proportion of class-switched memory B cel... |
OMIM:618944 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Thickened skin, D... |
ORPHA:495 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Hypereosinophilia, Chronic or... |
OMIM:212050 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Hepatospleno... |
OMIM:619924 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H... |
OMIM:300635 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
Lipoid Proteinosis |
|
Hyperkeratosis, Thickened skin, Pustule, Acne |
ORPHA:530 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Acanthosis nigricans, Dry skin |
ORPHA:3085 |
Intermediate Uveitis |
|
Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis |
ORPHA:279914 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Dry skin, Ichthyosis |
OMIM:616943 |
Atelis Syndrome 1 |
|
Bronchiectasis, Eczema, Dry skin |
OMIM:620184 |
Hatipoglu Immunodeficiency Syndrome |
|
Eczema, Thickened skin, Atopic dermatitis, Recurrent otitis media, Dry skin, Petechiae |
OMIM:620331 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Malar rash, Papuloves... |
ORPHA:330058 |
Immunodeficiency 55 |
|
Dry skin, Recurrent skin infections, Eczema, Ichthyosis |
OMIM:617827 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Pneumonia |
OMIM:269840 |
Rhizomelic Chondrodysplasia Punctata |
|
Dry skin, Ichthyosis |
ORPHA:177 |
Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:494 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma |
OMIM:613576 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Crohn's disease |
ORPHA:69126 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Psoriasiform dermatitis, Abnormal T cell subset distribution, Arthritis, B lymphocytopenia, Chron... |
ORPHA:221139 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis |
OMIM:221700 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke... |
OMIM:242100 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
Meige Disease |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections, ... |
ORPHA:90186 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Palmoplantar keratoderma, Scaling skin, Dry skin |
OMIM:618373 |
Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis |
OMIM:613102 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la... |
OMIM:618108 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Eczema, Ichthyosis |
ORPHA:3055 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Dry skin |
OMIM:600906 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thickened skin, Skin rash, Thin skin |
ORPHA:1658 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusiti... |
ORPHA:217390 |
Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
Noonan Syndrome 8 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Eczema, Webbed neck |
OMIM:615355 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Arthritis, Ot... |
ORPHA:229717 |
Trichothiodystrophy 1, Photosensitive |
|
Hyperkeratosis, Keratoconjunctivitis sicca, Congenital nonbullous ichthyosiform erythroderma, Ery... |
OMIM:601675 |
Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, T lymphocytopenia, B lympho... |
ORPHA:277 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... |
OMIM:604416 |
Xeroderma Pigmentosum Variant |
|
Keratitis, Dry skin |
ORPHA:90342 |
Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
H Syndrome |
|
Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis, Ichthyosis, Scleroderma |
ORPHA:168569 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pneumon... |
ORPHA:293978 |
Dermoodontodysplasia |
|
Dry skin, Thin skin |
ORPHA:1660 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Skin rash |
OMIM:124950 |
Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Inflammation of the large intestine, Dry skin |
OMIM:614576 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Acanthosis nigricans, Dry skin |
OMIM:268020 |
Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Spinocerebellar Ataxia Type 42 |
|
Psoriasiform dermatitis |
ORPHA:458803 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Ameloonychohypohidrotic Syndrome |
|
Dry skin, Seborrheic dermatitis |
OMIM:104570 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis |
OMIM:602400 |
Porphyria Cutanea Tarda, Type I |
|
Eczema |
OMIM:176090 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Dry skin |
OMIM:275100 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis |
OMIM:616871 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkerat... |
ORPHA:69087 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Crusting erythematous dermatitis, Thin skin, Palmoplantar hyperkeratosis |
ORPHA:158673 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Dry skin |
OMIM:129490 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin, Thin skin |
OMIM:617364 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Erythema |
ORPHA:90159 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
Immunodeficiency 102 |
|
Recurrent skin infections, Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of C... |
OMIM:301082 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Skin ulcer |
ORPHA:542592 |
Reticular Dysgenesis |
|
Chronic otitis media, Skin rash, Skin ulcer |
ORPHA:33355 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Blepharitis |
OMIM:612843 |
Familial Melanoma |
|
Dry skin |
ORPHA:618 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis |
OMIM:612567 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Acanthosis nigricans, Dry skin |
OMIM:262190 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin |
OMIM:614450 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Milroy Disease |
|
Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Reynolds Syndrome |
|
Skin rash, Pruritus, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis, ... |
ORPHA:779 |
Trichodysplasia-Xeroderma Syndrome |
|
Dry skin |
ORPHA:3361 |
De Sanctis-Cacchione Syndrome |
|
Keratitis, Parakeratosis, Conjunctivitis |
OMIM:278800 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosum, Bronchi... |
OMIM:616576 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... |
OMIM:615518 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis |
OMIM:611762 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Uremic Pruritus |
|
Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections |
ORPHA:94059 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Adiposis Dolorosa |
|
Arthritis, Dry skin, Recurrent skin infections |
ORPHA:36397 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Dry skin, Eczema |
OMIM:620191 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P... |
OMIM:605676 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve... |
ORPHA:48104 |
Congenital Ichthyosiform Erythroderma |
|
Pruritus, Keratitis, Ichthyosis, Palmoplantar keratoderma, Erythroderma |
ORPHA:79394 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophi... |
OMIM:617638 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum... |
OMIM:300400 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Leopard Syndrome 2 |
|
Dry skin, Webbed neck |
OMIM:611554 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Keratoconjunctivitis sicca, Skin ulcer |
ORPHA:1806 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Plantar hyperkeratosis, Hyperkeratotic papule, Palmar hyperkeratosis |
ORPHA:79397 |
Tooth Agenesis, Selective, 4 |
|
Dry skin, Thin skin, Palmar hyperkeratosis |
OMIM:150400 |
Ramon Syndrome |
|
Hyperkeratosis |
ORPHA:3019 |
Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Erythema, Skin rash, Purpura |
ORPHA:889 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Mem... |
ORPHA:49041 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
Acrodermatitis Enteropathica |
|
Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis |
ORPHA:37 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Thickened skin, Psoriasiform dermatitis, Hashimoto thyroiditis, Hepatitis |
ORPHA:436252 |
Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Stillbirth, Eczema, Thrombocytopenia |
OMIM:619751 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Dry skin |
ORPHA:2617 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Webbed neck |
OMIM:615279 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin |
ORPHA:1035 |
Immunodeficiency 97 With Autoinflammation |
|
Monocytopenia, Autoimmune hemolytic anemia, Recurrent skin infections, Eczema, Decreased proporti... |
OMIM:619802 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Dry skin |
OMIM:601701 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Stomatitis |
OMIM:612852 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
Complex Regional Pain Syndrome |
|
Erythema, Dry skin |
ORPHA:83452 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Thickened skin, Erythema, Palmoplantar keratoderma, Skin ulcer |
ORPHA:659 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Limb-Mammary Syndrome |
|
Dry skin, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Blepharitis |
ORPHA:69085 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of CD4-positive hel... |
OMIM:619510 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
ORPHA:189 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Recurrent pneumonia, Hyperkeratosis, Palmoplantar keratoderma,... |
OMIM:604173 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... |
ORPHA:83617 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Decreased ... |
OMIM:243700 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... |
OMIM:614868 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Refsum Disease |
|
Dry skin, Ichthyosis |
ORPHA:773 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... |
OMIM:615726 |
Ddost-Cdg |
|
Dry skin |
ORPHA:300536 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly |
ORPHA:1010 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Osteomyelitis, Recurrent pneumonia, ... |
ORPHA:47 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Pruritus, Gastrointestinal inflammation, Palmoplantar keratoderma, Skin vesicle, Hyperkeratotic p... |
ORPHA:79410 |
Van Den Bosch Syndrome |
|
Recurrent skin infections, Acrokeratosis |
ORPHA:3417 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Facial erythema, Arthritis, Recurrent otitis medi... |
OMIM:620321 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin rash |
ORPHA:90000 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Acrogeria |
|
Excessive wrinkled skin, Thin skin, Skin ulcer |
ORPHA:2500 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:616029 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer |
OMIM:604571 |
Cardiofaciocutaneous Syndrome |
|
Redundant skin, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Excessive wrinkled skin, We... |
ORPHA:1340 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa |
OMIM:608068 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Scaling skin |
ORPHA:90283 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... |
ORPHA:276 |
Cortisone Reductase Deficiency 1 |
|
Acne |
OMIM:604931 |
Jung Syndrome |
|
Dry skin |
ORPHA:2321 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... |
OMIM:618131 |
Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Increased proportion of CD25+ mast ce... |
ORPHA:98848 |
Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae |
OMIM:609242 |
Warty Dyskeratoma |
|
Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid derma... |
OMIM:147060 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis |
ORPHA:1883 |
Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
Schnitzler Syndrome |
|
Skin rash, Pruritus, Splenomegaly, Leukocytosis, Arthritis, Anemia |
ORPHA:37748 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Rapp-Hodgkin Syndrome |
|
Recurrent otitis media, Palmoplantar keratoderma, Thin skin, Dry skin |
OMIM:129400 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Recurrent pneumonia, Atopic dermatitis, Bronchiectasis, Chronic mucocu... |
OMIM:619752 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
Blau Syndrome |
|
Pericarditis, Skin rash, Erythema nodosum, Retrobulbar optic neuritis, Keratitis, Iridocyclitis, ... |
ORPHA:90340 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke... |
ORPHA:158668 |
Caspase 8 Deficiency |
|
Pneumonia, Splenomegaly, Decreased CD4:CD8 ratio, Eczema |
OMIM:607271 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Folliculitis, Angular cheilitis, Palmoplantar hyperkeratosis |
OMIM:167210 |
Idiopathic Trachyonychia |
|
Circumungual hyperkeratosis, Atopic dermatitis, Ichthyosis |
ORPHA:79153 |
Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Pruritus, Erythema, Skin ulcer, Arthritis, Dry skin |
ORPHA:93672 |
Hydroxykynureninuria |
|
Stomatitis, Dry skin |
ORPHA:79155 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome... |
ORPHA:169160 |
Cutaneous Collagenous Vasculopathy |
|
Pruritus, Erythema, Skin rash, Petechiae |
ORPHA:280779 |
Xeroderma Pigmentosum |
|
Keratitis, Thickened skin, Erythema, Hyperkeratosis, Thin skin, Dry skin, Blepharitis |
ORPHA:910 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Dry skin |
ORPHA:95715 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Noonan Syndrome 5 |
|
Dry skin, Webbed neck |
OMIM:611553 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Scaling skin |
ORPHA:90156 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Chilblains, Thrombocytopenia |
OMIM:615010 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Conjunctiv... |
ORPHA:3392 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis |
OMIM:619693 |
Pachyonychia Congenita |
|
Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar kerato... |
ORPHA:2309 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa... |
OMIM:619858 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Recurrent skin infections, Thrombocytopenia |
OMIM:614171 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Dry skin |
OMIM:300860 |
Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis |
ORPHA:2583 |
Distal Duplication 6P |
|
Dry skin |
ORPHA:1745 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Keratitis, Hyperkeratosis, Keratoconjunctivitis sicca, Ichth... |
OMIM:148210 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo... |
ORPHA:275 |
Noonan Syndrome 13 |
|
Recurrent otitis media, Dry skin, Webbed neck |
OMIM:619087 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Pruritus, Skin ulcer, Skin vesicle, Chronic otitis media |
ORPHA:2314 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut... |
ORPHA:486 |
Costello Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Redundant skin, Lack of skin elasticity |
ORPHA:3071 |
Lymphatic Malformation 12 |
|
Hyperkeratosis |
OMIM:620014 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, E... |
ORPHA:727 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Osteomyelitis, Skin ulcer |
ORPHA:2218 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Eczema |
OMIM:177000 |
Prolidase Deficiency |
|
Eczema, Crusting erythematous dermatitis, Recurrent pneumonia, Skin ulcer, Petechiae |
OMIM:170100 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes... |
ORPHA:29207 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Eczema, Keratitis, Bronchiectasis, Recurrent otitis media |
OMIM:618523 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... |
ORPHA:572 |
Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Colitis, Bronchiectasis, Recurrent pneumonia |
OMIM:301220 |
Juvenile Hyaline Fibromatosis |
|
Skin ulcer |
ORPHA:2028 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Anemia |
OMIM:607115 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Erythema, Palmoplantar hyperkeratosis, Keratoconjunctivitis, Skin ulcer, Thin sk... |
ORPHA:2907 |
Recon Progeroid Syndrome |
|
Keratoconjunctivitis sicca, Dry skin, Thin skin, Scaling skin |
OMIM:620370 |
Tangier Disease |
|
Dry skin |
OMIM:205400 |
Spontaneous Periodic Hypothermia |
|
Skin rash, Pallor |
ORPHA:29822 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... |
OMIM:618935 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Erythrod... |
ORPHA:169154 |
Adult Syndrome |
|
Dry skin, Conjunctivitis, Eczema, Thin skin |
OMIM:103285 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato... |
OMIM:259100 |
Dermatitis Herpetiformis |
|
Pruritus, Skin vesicle, Erythema, Eczema |
ORPHA:1656 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Dry skin |
ORPHA:226313 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis |
ORPHA:567544 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal er... |
OMIM:308205 |
Eec Syndrome |
|
Keratitis, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Blepharitis |
ORPHA:1896 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... |
ORPHA:443811 |
Pseudopelade Of Brocq |
|
Recurrent skin infections, Cheilitis |
ORPHA:129 |
Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Erythema, Eczema |
ORPHA:79278 |
Atopic Keratoconjunctivitis |
|
Keratitis, Keratoconjunctivitis sicca, Dry skin, Blepharitis |
ORPHA:163934 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... |
ORPHA:2686 |
Koolen-De Vries Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:96169 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Blepharitis |
OMIM:614328 |
Radio-Tartaglia Syndrome |
|
Dry skin, Striae distensae |
OMIM:619312 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic anemia, Pustule... |
ORPHA:77297 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Leukopenia, Lymphopenia, Recurrent skin infections |
OMIM:620210 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Dry skin, Chilblains, Pericarditis |
OMIM:619487 |
19Q13.11 Microdeletion Syndrome |
|
Dry skin, Thin skin |
ORPHA:217346 |
Squalene Synthase Deficiency |
|
Dry skin |
OMIM:618156 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, B lymphocytopenia, Dec... |
OMIM:618048 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephrit... |
ORPHA:139402 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Impaired neutr... |
OMIM:618986 |
Takayasu Arteritis |
|
Increased inflammatory response, Inflammatory abnormality of the eye, Skin ulcer, Arthritis |
ORPHA:3287 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, T lymphocytope... |
OMIM:615607 |
Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Skin rash, Macular purpura |
ORPHA:49566 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Skin rash |
ORPHA:220295 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Membranoproliferative glomerulonephritis, Epidermal hyperkeratosis |
OMIM:137940 |
Agel Amyloidosis |
|
Pruritus, Keratoconjunctivitis sicca, Dry skin, Cutis laxa |
ORPHA:85448 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis |
ORPHA:2237 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Keratoconjunctivitis sicca, Conjunctivitis, Ichthyos... |
ORPHA:33364 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Dry skin, Perianal erythema, Perioral erythema |
OMIM:201100 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
Mpdu1-Cdg |
|
Scaling skin, Eczema, Ichthyosis |
ORPHA:79323 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Erythema, Cheilitis, Hyperkeratosis, Inflammation of the large intesti... |
ORPHA:2908 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Thickened skin, Skin ulcer, Panniculitis, Scaling skin, Dry skin, Erysipelas |
ORPHA:2526 |
Polyarteritis Nodosa |
|
Pericarditis, Erythema, Skin ulcer |
ORPHA:767 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili... |
ORPHA:331206 |
Incontinentia Pigmenti |
|
Maculopapular exanthema, Keratitis, Erythema, Uveitis, Hyperkeratosis, Pallor |
OMIM:308300 |
Bachmann-Bupp Syndrome |
|
Dry skin |
OMIM:619075 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczema, Thyroiditis |
OMIM:618985 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne |
OMIM:612847 |
Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Osteomyelitis, Acral ulceration |
OMIM:613115 |
Beta-Thalassemia |
|
Pallor, Hepatitis, Skin ulcer |
ORPHA:848 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Osteomyelitis, Skin ulcer |
OMIM:613640 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell count, ... |
OMIM:616050 |
Leishmaniasis |
|
Rhinitis, Pallor, Skin ulcer |
ORPHA:507 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent skin infections, Severe periodontitis, Pustule, ... |
ORPHA:678 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Thin skin |
ORPHA:1810 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Skin ulcer,... |
OMIM:186580 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Hepatospleno... |
OMIM:612840 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Acne |
ORPHA:3000 |
Chronic Granulomatous Disease |
|
Sinusitis, Eczema, Skin ulcer, Otitis media, Inflammatory abnormality of the eye |
ORPHA:379 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Dry skin |
OMIM:614940 |
9P13 Microdeletion Syndrome |
|
Recurrent otitis media, Dry skin |
ORPHA:324313 |
Incontinentia Pigmenti |
|
Skin rash, Keratitis, Erythema, Uveitis, Skin ulcer, Hyperkeratosis, Infectious encephalitis |
ORPHA:464 |
Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... |
ORPHA:35078 |
Adult Syndrome |
|
Dry skin, Thin skin, Skin ulcer |
ORPHA:978 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Pyoderma g... |
ORPHA:3243 |
Toxic Epidermal Necrolysis |
|
Acantholysis, Erythema, Skin ulcer, Conjunctivitis, Pancreatitis |
ORPHA:537 |
Alg11-Cdg |
|
Dry skin |
ORPHA:280071 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Dry skin |
OMIM:618797 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Acantholysis |
OMIM:609638 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Thickened skin, Acne, Seborrheic dermatitis |
OMIM:614441 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Skin rash |
OMIM:105200 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Neutrope... |
OMIM:304790 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Petechiae, Purpura |
ORPHA:91138 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Panniculitis, Eczema, Dry skin |
ORPHA:508542 |
Ollier Disease |
|
Skin ulcer |
ORPHA:296 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Osteoarthritis, Skin ulcer |
ORPHA:1657 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Rhinitis, Periorbital wrinkles, Dry skin |
OMIM:614941 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Dry skin, Thin skin |
ORPHA:1812 |
Limited Cutaneous Systemic Sclerosis |
|
Skin ulcer |
ORPHA:220402 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Erysipelas |
OMIM:134610 |
Autosomal Dominant Hypocalcemia |
|
Dry skin, Eczema |
ORPHA:428 |
Immunodeficiency 96 |
|
Recurrent otitis media, Increased proportion of gamma-delta T cells, Increased mean corpuscular v... |
OMIM:619774 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Eczema |
ORPHA:1525 |
Werner Syndrome |
|
Hyperkeratosis, Lack of skin elasticity, Skin ulcer |
ORPHA:902 |
Noonan Syndrome 14 |
|
Dry skin, Webbed neck |
OMIM:619745 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim... |
OMIM:614700 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia |
OMIM:616069 |
Rat-Bite Fever |
|
Pericarditis, Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Lymphadenitis, Myoca... |
ORPHA:31205 |
Gaucher Disease, Perinatal Lethal |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Petechiae, Purpura |
OMIM:608013 |
Koolen-De Vries Syndrome |
|
Dry skin, Eczema |
OMIM:610443 |
Hyperzincemia With Functional Zinc Depletion |
|
Skin rash |
OMIM:601979 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Pruritus, Myocarditis, Leukocytosis, Splenomegaly, Hepatit... |
ORPHA:829 |
Subcorneal Pustular Dermatosis |
|
Pruritus, Erythema, Pustule, Rheumatoid arthritis |
ORPHA:48377 |
Bazex-Dupre-Christol Syndrome |
|
Atopic dermatitis, Eczema, Acne inversa |
OMIM:301845 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Increased T cell count, Chronic mucocutaneous candidiasis, Inflammation of the large inte... |
ORPHA:98813 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... |
ORPHA:228119 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dry skin |
OMIM:619244 |
Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis |
OMIM:246200 |
Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, Endocarditis, Skin ulcer,... |
ORPHA:707 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:100026 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Eczema, Rhinitis, Periorbital wrinkles, Thin skin, Dry skin |
OMIM:305100 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous stomatitis, Ichth... |
ORPHA:575 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:1005 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Dry skin |
OMIM:613026 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Pustule, Orchitis, Erythema, Skin ulcer, Arthritis, Infectious encephali... |
ORPHA:761 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation... |
ORPHA:556 |
Fixed Drug Eruption |
|
Stomatitis, Erythema, Crusting erythematous dermatitis |
ORPHA:293812 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... |
OMIM:301074 |
Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas |
OMIM:142680 |
Hereditary Spherocytosis |
|
Skin ulcer, Maculopapular exanthema, Pallor, Gout |
ORPHA:822 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dry skin, Eczema |
OMIM:617799 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Skin ulcer |
ORPHA:86884 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Pruritus, Thrombocytopenia, Arthritis, Conjunctivitis, Infect... |
ORPHA:448237 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Recurrent otitis media, Dry skin |
ORPHA:261323 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Follicul... |
OMIM:158310 |
Graft Versus Host Disease |
|
Myositis, Inflammatory abnormality of the skin, Maculopapular exanthema, Fasciitis, Pneumonia, Ga... |
ORPHA:39812 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis |
OMIM:615468 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Webbed neck, Dry skin, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:280000 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Erysipelas |
OMIM:214900 |
Stevens-Johnson Syndrome |
|
Erythema, Conjunctivitis, Pancreatitis, Acantholysis |
ORPHA:36426 |
Generalized Pustular Psoriasis |
|
Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp... |
ORPHA:247353 |
Xfe Progeroid Syndrome |
|
Dry skin, Death in adolescence |
OMIM:610965 |
Septo-Optic Dysplasia Spectrum |
|
Dry skin |
ORPHA:3157 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Myositis, Skin rash, Pustule, Leukopenia, Thrombocytosis, Pustular rash, Malar rash,... |
OMIM:615934 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Acral ulceration |
OMIM:162400 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Anterior uveitis, Pericarditis, Skin rash |
ORPHA:85414 |
Den Hoed-De Boer-Voisin Syndrome |
|
Dry skin, Death in adolescence |
OMIM:619229 |
Familial Benign Copper Deficiency |
|
Acne, Anemia |
ORPHA:1551 |
Blue Rubber Bleb Nevus |
|
Skin rash, Microcytic anemia |
ORPHA:1059 |
Free Sialic Acid Storage Disease |
|
Skin ulcer |
ORPHA:834 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Dry skin |
ORPHA:99832 |
Flynn-Aird Syndrome |
|
Skin ulcer |
ORPHA:2047 |
Rabson-Mendenhall Syndrome |
|
Acanthosis nigricans, Dry skin |
ORPHA:769 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Thickened skin, Acne, Seborrheic dermatitis |
OMIM:167100 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, M... |
ORPHA:542643 |
Dermatomyositis |
|
Pericarditis, Pruritus, Myocarditis, Erythema, Skin ulcer, Arthritis, Dry skin |
ORPHA:221 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Skin rash, Pallor |
ORPHA:90036 |
Noonan Syndrome 10 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Webbed neck |
OMIM:616564 |
Refractory Celiac Disease |
|
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In... |
ORPHA:398063 |
Menkes Disease |
|
Thickened skin, Osteomyelitis, Dry skin |
ORPHA:565 |
Classic Phenylketonuria |
|
Eczema, Lack of skin elasticity |
ORPHA:79254 |
Late-Onset Isolated Acth Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Dry skin |
ORPHA:199299 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Arthritis, Panniculitis, Conjunct... |
OMIM:617591 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly |
OMIM:610644 |
Leukocyte Adhesion Deficiency, Type I |
|
Skin ulcer, Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis |
OMIM:116920 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Pruritus, Thickened s... |
ORPHA:90291 |
Hajdu-Cheney Syndrome |
|
Thickened skin, Dry skin, Periodontitis, Skin ulcer |
ORPHA:955 |
Brooke-Spiegler Syndrome |
|
Skin ulcer |
ORPHA:79493 |
Leprosy |
|
Penetrating foot ulcers, Uveitis, Hyperkeratosis, Acral ulceration, Iritis |
ORPHA:548 |
Dubowitz Syndrome |
|
Dry skin, Eczema |
ORPHA:235 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Bone Marrow Failure Syndrome 3 |
|
Hyperkeratosis, Eczema |
OMIM:617052 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis |
OMIM:254090 |
Sheehan Syndrome |
|
Pallor, Dry skin, Hashimoto thyroiditis |
ORPHA:91355 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Splenomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production |
OMIM:612714 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Redundant neck skin |
ORPHA:79332 |
Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
Chime Syndrome |
|
Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis |
ORPHA:3474 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis... |
ORPHA:292 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Dry skin |
ORPHA:2637 |
Boutonneuse Fever |
|
Skin rash, Leukopenia, Maculopapular exanthema, Thrombocytopenia |
ORPHA:83313 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hyperkeratosis, Webbed neck, Eczema, Ichthyosis |
OMIM:607721 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Dry skin |
OMIM:613990 |
Helix Syndrome |
|
Dry skin |
OMIM:617671 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca,... |
ORPHA:809 |
Infantile Systemic Hyalinosis |
|
Thickened skin, Skin ulcer |
ORPHA:2176 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... |
OMIM:610984 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233710 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczema, Thrombocytopenia, Keratoconjunctivitis |
ORPHA:79242 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperkeratosis, Webbed neck, Atopic dermatitis, Ichthyosis |
OMIM:115150 |
Antisynthetase Syndrome |
|
Myositis, Skin rash, Pruritus, Myocarditis, Lack of skin elasticity, Keratoconjunctivitis sicca |
ORPHA:81 |
American Trypanosomiasis |
|
Myocarditis, Pallor, Skin rash, Infectious encephalitis |
ORPHA:3386 |
Scalp-Ear-Nipple Syndrome |
|
Thickened skin, Dry skin, Pyelonephritis |
OMIM:181270 |
Cranioectodermal Dysplasia 3 |
|
Dry skin, Cutis laxa |
OMIM:614099 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Erythema nodosum, Skin ulcer, Arthritis, Panniculitis, Recurrent sinusitis, Re... |
OMIM:615688 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis |
ORPHA:2483 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Lethal Acantholytic Erosive Disorder |
|
Acantholysis |
ORPHA:158687 |
Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Abscess, E... |
OMIM:615816 |
Dengue Fever |
|
Pruritus, Leukopenia, Skin rash, Thrombocytopenia |
ORPHA:99828 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Dry skin |
ORPHA:163956 |
Aicardi-Goutières Syndrome |
|
Myositis, Chilblains, Arthritis, Panniculitis, Dry skin |
ORPHA:51 |
Fucosidosis |
|
Dry skin, Petechiae |
OMIM:230000 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Arthritis, Leukopenia, Microangiopathic hem... |
ORPHA:93552 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis |
OMIM:620189 |
Hallermann-Streiff Syndrome |
|
Recurrent pneumonia, Dry skin |
OMIM:234100 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233690 |
Familial Multiple Nevi Flammei |
|
Skin ulcer |
ORPHA:624 |
Lipodystrophy, Familial Partial, Type 7 |
|
Facial wrinkling, Recurrent pancreatitis, Thin skin, Acanthosis nigricans, Dry skin |
OMIM:606721 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat... |
ORPHA:95455 |
Pachydermoperiostosis |
|
Osteomyelitis, Acne, Seborrheic dermatitis, Thickened skin, Arthritis, Palmoplantar keratoderma, ... |
ORPHA:2796 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperkeratosis, Thickened skin, Thin skin, Palmoplantar hyperkeratosis |
OMIM:601812 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema |
OMIM:613960 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Maculopapular exanthema, Thrombocytopenia, Splenomegaly, Neutropenia, Colitis, Hemopha... |
ORPHA:540 |
Lymphatic Filariasis |
|
Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Hyperkeratosis |
ORPHA:2035 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dry skin |
OMIM:619306 |
Fucosidosis |
|
Generalized hyperkeratosis |
ORPHA:349 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Barber-Say Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency |
OMIM:209885 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti... |
OMIM:615952 |
Estrogen Resistance |
|
Acanthosis nigricans, Acne |
OMIM:615363 |
Ablepharon Macrostomia Syndrome |
|
Excessive wrinkled skin, Redundant skin, Dry skin, Thin skin |
ORPHA:920 |
Noonan Syndrome 2 |
|
Palmoplantar cutis laxa, Hyperkeratosis |
OMIM:605275 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Arthritis... |
OMIM:260920 |
Infantile Myofibromatosis |
|
Skin ulcer |
ORPHA:2591 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Recurrent pneumonia, Excessive wrinkled skin, Thin skin, Follicular hyperkeratosis, Palmoplantar ... |
OMIM:225400 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Iritis |
OMIM:109650 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Skin ulcer |
ORPHA:220393 |
Dyskeratosis Congenita |
|
Skin ulcer, Palmoplantar keratoderma, Periodontitis, Skin vesicle, Blepharitis |
ORPHA:1775 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration |
OMIM:608654 |
Ramon Syndrome |
|
Hyperkeratosis, Juvenile rheumatoid arthritis |
OMIM:266270 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis |
OMIM:615510 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Dry skin, Scaling skin |
OMIM:618419 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Dry skin |
ORPHA:90674 |
Nestor-Guillermo Progeria Syndrome |
|
Dry skin |
OMIM:614008 |
Syndromic Diarrhea |
|
Colitis, Gastritis, Dry skin |
ORPHA:84064 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Keratitis, Skin ulcer, Arthritis, Inflammation of the large intestine, Conjunc... |
ORPHA:906 |
Catastrophic Antiphospholipid Syndrome |
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Myocarditis, Skin ulcer, Arthritis |
ORPHA:464343 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Episcleritis, Eczema, Keratitis, Erythema, Cheilitis, Uveitis, Scleritis, Hyperkeratosis, Conjunc... |
ORPHA:2273 |
Granulomatosis With Polyangiitis |
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Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Prostatitis, Skin ulcer, Oti... |
ORPHA:900 |
Alzahrani-Kuwahara Syndrome |
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Dry skin, Eczema |
OMIM:619268 |
Good Syndrome |
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Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Thrombocytopenia, Bronchiect... |
ORPHA:169105 |
Immunodeficiency 31C |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... |
OMIM:614162 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Inflammation of the large intesti... |
OMIM:617718 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hyperkeratosis, Dry skin |
OMIM:210710 |
Immunodeficiency 59 And Hypoglycemia |
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Recurrent skin infections, Herpes simplex encephalitis, Decreased proportion of class-switched me... |
OMIM:233600 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Hyperkeratosis |
ORPHA:79280 |
Intrahepatic Cholestasis Of Pregnancy |
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Skin rash, Pruritus, Pruritus on foot, Cholecystitis, Palmar pruritus |
ORPHA:69665 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Erythema, Atopic dermatitis, Facial erythema, Cutis laxa, Recurrent otitis media, Scaling skin, I... |
OMIM:619503 |
Orofaciodigital Syndrome Type 1 |
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Chronic otitis media, Dry skin |
ORPHA:2750 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ... |
ORPHA:32960 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Inflammation of the large intestine, Thin skin... |
OMIM:615895 |
Acute Adrenal Insufficiency |
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Dry skin |
ORPHA:95409 |
Giant Cell Arteritis |
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Arthritis, Pericarditis, Skin ulcer |
ORPHA:397 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Follicular hyperkeratosis, Cutis laxa |
OMIM:614557 |
Amoebiasis Due To Free-Living Amoebae |
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Unusual skin infection, Sinusitis, Pneumonia, Pustule, Skin ulcer, Infectious encephalitis |
ORPHA:68 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
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Foot osteomyelitis, Acral ulceration |
OMIM:256840 |
Hermansky-Pudlak Syndrome |
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Hyperkeratosis, Thickened skin |
ORPHA:79430 |
Warburg-Cinotti Syndrome |
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Erythema, Thin skin, Follicular hyperkeratosis |
OMIM:618175 |
Tangier Disease |
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Dry skin |
ORPHA:31150 |
Addison Disease |
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Dry skin, Hashimoto thyroiditis |
ORPHA:85138 |
Ablepharon-Macrostomia Syndrome |
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Premature skin wrinkling, Redundant skin, Dry skin, Thin skin |
OMIM:200110 |
Listeriosis |
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Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... |
ORPHA:533 |
Cockayne Syndrome B |
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Dry skin, Death in childhood |
OMIM:133540 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Decreased proportion o... |
OMIM:619381 |
Chikungunya |
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Skin rash, Maculopapular exanthema, Pruritus, Erythema nodosum, Crusting erythematous dermatitis,... |
ORPHA:324625 |
Dominant Beta-Thalassemia |
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Pallor, Skin ulcer, Chronic hepatitis |
ORPHA:231226 |
Bartsocas-Papas Syndrome 1 |
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Dry skin |
OMIM:263650 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Erythema, Palmoplantar keratoderma, Recurrent skin infections |
ORPHA:79396 |
Chand Syndrome |
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Dry skin |
ORPHA:1401 |
Idiopathic Hypereosinophilic Syndrome |
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Inflammatory abnormality of the skin, Neutrophilia, Eczema, Cholangitis, Eosinophilia, Pruritus, ... |
ORPHA:3260 |
Familial Mediterranean Fever |
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Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's... |
OMIM:249100 |
Beta-Thalassemia Intermedia |
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Pallor, Skin ulcer |
ORPHA:231222 |
Chronic Graft Versus Host Disease |
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Fasciitis, Thickened skin, Urinary bladder inflammation, Erythema, Bronchiectasis, Skin ulcer, Ar... |
ORPHA:99921 |
Biotinidase Deficiency |
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Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis |
OMIM:253260 |
Cockayne Syndrome A |
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Dry skin |
OMIM:216400 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Dry skin |
OMIM:612132 |
Cushing Disease |
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Acne, Skin ulcer, Recurrent cutaneous fungal infections, Thin skin, Ecchymosis, Striae distensae,... |
ORPHA:96253 |
Thrombocytopenia 1 |
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Congenital thrombocytopenia, Eczema, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Acne |
ORPHA:2795 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Sinusitis, Skin rash, Pneumonia, Ec... |
ORPHA:811 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Dry skin |
OMIM:218700 |
Wiedemann-Rautenstrauch Syndrome |
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Pneumonia, Premature skin wrinkling, Dry skin, Thin skin |
OMIM:264090 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Recurrent otitis media, Hyperkeratosis, Eczema, Ichthyosis |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Recurrent otitis media, Hyperkeratosis, Eczema, Ichthyosis |
ORPHA:363958 |
Noonan Syndrome 1 |
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Dry skin, Synovitis, Webbed neck |
OMIM:163950 |
Trichorhinophalangeal Syndrome, Type Ii |
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Chronic gastritis, Redundant skin in infancy, Recurrent pneumonia, Cutis laxa, Recurrent otitis m... |
OMIM:150230 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Keratitis, Osteomyelitis, Acral ulceration |
OMIM:256800 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Septic arthritis, Dry skin, Recurrent aspiration pneumonia |
ORPHA:642 |
Restrictive Dermopathy |
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Epidermal hyperkeratosis, Scaling skin, Webbed neck, Generalized hyperkeratosis, Dermal translucency |
ORPHA:1662 |
Atypical Werner Syndrome |
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Hyperkeratosis, Thin skin, Skin ulcer, Lack of skin elasticity |
ORPHA:79474 |
Fabry Disease |
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Hyperkeratosis, Arthritis |
ORPHA:324 |
Familial Tumoral Calcinosis |
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Erythema, Skin rash |
ORPHA:53715 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Severe periodontitis, Recurrent skin infections, Pneumonia, Osteomyelitis, Perianal ab... |
ORPHA:2968 |
Familial Mediterranean Fever |
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Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Erythema, Arthritis, Erysipelas, ... |
ORPHA:342 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
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Acral ulceration |
OMIM:201300 |
Mullerian Aplasia And Hyperandrogenism |
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Acne |
OMIM:158330 |
Simple Cryoglobulinemia |
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Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Acral ulcerat... |
ORPHA:91139 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Inflammatory abnormality of the skin, Pancreatitis, Ichthyosis |
ORPHA:565612 |
Beta-Thalassemia Major |
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Pallor, Skin ulcer |
ORPHA:231214 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
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Skin ulcer |
OMIM:245660 |
Leprechaunism |
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Acanthosis nigricans, Thickened skin, Hyperkeratosis |
ORPHA:508 |
Kikuchi-Fujimoto Disease |
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Skin rash, Pruritus, Myocarditis, Pustule, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocyto... |
ORPHA:50918 |
Exercise-Induced Malignant Hyperthermia |
|
Dry skin |
ORPHA:466650 |
Postinfectious Vasculitis |
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Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
6Q Terminal Deletion Syndrome |
|
Hyperkeratosis |
ORPHA:75857 |
Restrictive Dermopathy 1 |
|
Scaling skin, Thin skin, Epidermal hyperkeratosis |
OMIM:275210 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Hyperkeratosis, Blepharitis, Thin skin |
OMIM:129900 |
Kawasaki Disease |
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Pericarditis, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Cheilitis, Arthritis, Conjunctivit... |
ORPHA:2331 |
Reynolds Syndrome |
|
Pruritus, Scleroderma, Sclerodactyly, Erythema nodosum |
OMIM:613471 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Hyperkeratosis, Blepharitis |
OMIM:604292 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Thin skin, Follicular hyperkeratosis |
ORPHA:536545 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Pneumonia |
ORPHA:26793 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin |
ORPHA:73223 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Skin ulcer, Arthritis, Periodontitis, Chronic otitis media |
ORPHA:534 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Lymphadenitis, Urinary bladder ... |
ORPHA:449395 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
Cowden Syndrome |
|
Palmoplantar keratoderma, Generalized hyperkeratosis |
ORPHA:201 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Ecchymosis, Skin ulcer, Bacterial endocarditis |
ORPHA:2072 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Acne, Skin ulcer, Recurrent cutaneous fungal infections, Thin skin, Ecchymosis, Striae distensae,... |
ORPHA:99889 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Dry skin |
ORPHA:99646 |
Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Osteomyelitis leading to amputation due to slow healing fractures, Acral ulceration |
OMIM:256810 |
Proteus Syndrome |
|
Thickened skin, Generalized hyperkeratosis |
ORPHA:744 |
Split Cord Malformation |
|
Penetrating foot ulcers |
ORPHA:573278 |