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 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis |
ORPHA:3052 |
Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
Psoriasis 2 |
|
Hyperkeratosis, Psoriasiform dermatitis, Scaling skin, Parakeratosis |
OMIM:602723 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosif... |
OMIM:612281 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis |
OMIM:618531 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... |
ORPHA:64745 |
Acquired Ichthyosis |
|
Pruritus, Palmoplantar keratoderma, Erythema, Recurrent skin infections, Ichthyosis, Hyperkeratos... |
ORPHA:454 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:146750 |
Ichthyosis Vulgaris |
|
Dry skin, Eczematoid dermatitis, Ichthyosis |
OMIM:146700 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform ery... |
ORPHA:79395 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Erythema, Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform e... |
OMIM:613943 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Allergic rhinitis, Pruritus, Parakeratosis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
Porokeratosis Of Mibelli |
|
Pruritus, Porokeratosis, Hyperkeratosis |
ORPHA:735 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... |
OMIM:613953 |
Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Peeling Skin Syndrome 4 |
|
Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin |
OMIM:607936 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:604777 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Atopic dermatitis, Dry skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis... |
ORPHA:530838 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... |
OMIM:613736 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Erythema migrans, Skin vesicle, Parakeratosis |
ORPHA:158681 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Dry skin, Acne, Follicular hyperkeratosis, Facial erythema, Contact dermat... |
ORPHA:3406 |
Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Arthritis |
OMIM:177900 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... |
OMIM:148730 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin |
OMIM:617571 |
Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus, Exce... |
ORPHA:498359 |
Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Ichthyosis, Fa... |
OMIM:603165 |
Bazex Syndrome |
|
Acanthosis nigricans, Pruritus, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Scaling ... |
ORPHA:166113 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis |
ORPHA:79503 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, R... |
OMIM:615508 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Erythema, Parakeratosis |
ORPHA:83453 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Pruritus, Perifolliculitis, Maculopa... |
ORPHA:79147 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer |
ORPHA:2337 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis |
OMIM:212360 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
Bathing Suit Ichthyosis |
|
Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic... |
ORPHA:100976 |
Vohwinkel Syndrome, Variant Form |
|
Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis |
OMIM:604117 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Pruritus |
OMIM:254400 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Classic Mycosis Fungoides |
|
Eczema, Pruritus, Erythema, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer |
ORPHA:2584 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... |
ORPHA:284426 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Pruritus, Palmoplantar keratoderma, Erythema, Parakeratosis, Ichthyosis, Hyperkeratosis |
OMIM:615821 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis |
OMIM:173200 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Erythema, Parakeratosis |
OMIM:614204 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Erythroderma, Pustule, Acantholysis, Pruritus, Erythema, Scaling skin, C... |
ORPHA:79481 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... |
OMIM:601952 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... |
ORPHA:312 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Cholangitis, Parakeratosis, Orthokeratosis, Ichthyosis, Dry skin |
OMIM:607626 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Posterior blepharitis, Palmopl... |
OMIM:300918 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
Cole Disease |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615522 |
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:270220 |
Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Palmoplantar keratoderma, Erythema, Hyperkeratosis |
OMIM:617525 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:2271 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Acne inversa, Hyperkeratosis |
OMIM:617337 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... |
ORPHA:499 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis |
OMIM:148600 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash... |
ORPHA:90280 |
Acrokeratosis Verruciformis |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101900 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Pa... |
ORPHA:87503 |
Immunodeficiency 55 |
|
Dry skin, Eczema, Recurrent skin infections, Ichthyosis |
OMIM:617827 |
Recessive X-Linked Ichthyosis |
|
Dry skin, Ichthyosis, Hyperkeratosis |
ORPHA:461 |
Olmsted Syndrome 2 |
|
Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkerat... |
OMIM:619208 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Porokeratosis 7, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:614714 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis |
OMIM:148500 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis |
ORPHA:38 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema |
OMIM:617443 |
Huriez Syndrome |
|
Sclerodactyly, Dry skin, Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:384 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
Olmsted Syndrome 1 |
|
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis |
OMIM:614594 |
Immunodeficiency 15A |
|
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... |
OMIM:618204 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin |
OMIM:617920 |
Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Erythema, Skin rash, Hyperkeratosis, Dry skin |
ORPHA:317 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Congenital ichthyosiform erythroderma, Erythroderma, Palmoplantar hyperkeratosis, Parakeratosis |
OMIM:242300 |
Porokeratosis 1, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175800 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Porokeratosis 3, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175900 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Folliculitis, Palmoplantar keratoderma, Keratitis, Follicular hyperkeratosis, Facial erythema, Dr... |
OMIM:308800 |
Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Scaling skin, Erythroderma, Hyperkeratosis |
OMIM:609180 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Congenital Lethal Erythroderma |
|
Dry skin, Congenital exfoliative erythroderma, Ichthyosis |
ORPHA:1954 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Lamellar Ichthyosis |
|
Erythroderma, Chronic otitis media, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis... |
ORPHA:313 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis, Pruritus |
ORPHA:505 |
Sjögren-Larsson Syndrome |
|
Erythema, Inflammatory abnormality of the eye, Ichthyosis, Hyperkeratosis, Dry skin |
ORPHA:816 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema |
ORPHA:703 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Lymphopenia |
OMIM:615615 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis, Erythema |
ORPHA:79100 |
Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Thickened skin, Arthritis, Uveitis, Skin rash, Generalized hyperkeratosis |
ORPHA:92 |
Lichen Planus Pemphigoides |
|
Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis, Skin vesicle |
ORPHA:254478 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Generalized hyperkeratosis |
ORPHA:2269 |
Anonychia With Flexural Pigmentation |
|
Follicular hyperkeratosis, Hyperkeratosis |
ORPHA:69125 |
Parana Hard Skin Syndrome |
|
Thickened skin, Hyperkeratosis |
ORPHA:2812 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis, Ichthyosis |
OMIM:616834 |
Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
Ichthyosis With Confetti |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:609165 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generalized hyperkeratosis |
OMIM:133200 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Splenomegaly, Crohn's disease, Autoim... |
OMIM:616100 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Recurrent sinusitis |
OMIM:617765 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratosis |
ORPHA:79399 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:89838 |
Odontoonychodermal Dysplasia |
|
Erythema, Hypergranulosis, Orthokeratosis, Dry skin, Plantar hyperkeratosis |
OMIM:257980 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis |
OMIM:618339 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
Pachyonychia Congenita 4 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615728 |
Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
Hypotrichosis 6 |
|
Pruritus, Follicular hyperkeratosis, Erythema |
OMIM:607903 |
Pityriasis Rubra Pilaris |
|
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... |
ORPHA:2897 |
Netherton Syndrome |
|
Congenital nonbullous ichthyosiform erythroderma, Allergic rhinitis, Erythroderma, Parakeratosis |
OMIM:256500 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Acne, Arthritis, Palmopla... |
ORPHA:324964 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin |
OMIM:614457 |
Epidermolytic Hyperkeratosis |
|
Congenital bullous ichthyosiform erythroderma, Erythroderma, Palmoplantar hyperkeratosis, Scaling... |
OMIM:113800 |
Pili Torti-Onychodysplasia Syndrome |
|
Dry skin, Generalized keratosis follicularis, Eczema, Palmoplantar keratoderma |
ORPHA:2890 |
Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Palmoplantar keratoderma, Erythema, Thin skin, Ichthyosis |
ORPHA:455 |
Immunodeficiency 50 |
|
Eczema, Neutropenia, Lymphopenia |
OMIM:300988 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, T lymphocytopenia, Chronic oral... |
OMIM:606367 |
Phenylketonuria |
|
Dry skin, Eczema, Scleroderma |
OMIM:261600 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Malar rash, Maculopapular exanthema, Skin rash, Hyperkeratosis |
ORPHA:398124 |
Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus, Erythema, Morphea, Scaling skin, Scleroderma |
ORPHA:90158 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Palmoplantar keratoderma, Punctate keratitis, Ichthyosis, Hyperkeratosis |
OMIM:602540 |
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis |
|
Congenital bullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:607602 |
Lichen Planopilaris |
|
Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis |
ORPHA:525 |
Kid Syndrome |
|
Keratoconjunctivitis sicca, Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess fo... |
ORPHA:477 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Eczema, Pneumonia, Splenomegaly, Otitis media, T lymphocytopenia |
OMIM:608971 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Familial Benign Chronic Pemphigus |
|
Erythema, Acantholysis, Skin vesicle, Hyperkeratosis |
ORPHA:2841 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Palmoplantar keratoderma, Erythroderma |
OMIM:615024 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
Dermoodontodysplasia |
|
Dry skin |
OMIM:125640 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... |
OMIM:106300 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema, Hyperkeratosis |
OMIM:606545 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Scaling skin, Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis |
OMIM:616295 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Ichthyosis, Hyperkeratosis |
OMIM:612379 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Pruritus, Arthritis, Skin rash, Skin ulcer |
ORPHA:231 |
Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Follicular hyperkeratosis, Palmoplantar keratoderma, Parakeratosis |
OMIM:615225 |
Darier Disease |
|
Pruritus, Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Acrokerat... |
ORPHA:218 |
Immunodeficiency 17 |
|
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... |
OMIM:615607 |
Dermatofibrosarcoma Protuberans |
|
Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... |
ORPHA:2199 |
Sézary Syndrome |
|
Dry skin, Pruritus, Palmoplantar keratoderma, Erythroderma |
ORPHA:3162 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Dry skin, Cutis laxa |
OMIM:105250 |
Leopard Syndrome 3 |
|
Epidermal hyperkeratosis, Webbed neck, Dry skin, Hyperkeratosis |
OMIM:613707 |
Iga Pemphigus |
|
Pustule, Acantholysis, Pruritus, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutan... |
ORPHA:555905 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate |
ORPHA:90283 |
Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Thrombocytopenia |
OMIM:606593 |
Prolidase Deficiency |
|
Pruritus, Palmoplantar keratoderma, Erythema, Thin skin, Hyperkeratosis, Dry skin, Crusting eryth... |
ORPHA:742 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Chilblains, Scaling skin |
OMIM:612952 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Irida Syndrome |
|
Pallor, Ichthyosis, Hyperkeratosis |
ORPHA:209981 |
Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis |
OMIM:147050 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Punctate keratitis, Follicular hyperkeratosis, Uveitis, Thyroiditis, ... |
OMIM:617388 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Dry skin, Eczema |
OMIM:612947 |
Chromomycosis |
|
Keratoconjunctivitis sicca, Hyperkeratotic papule, Pruritus, Hyperparakeratosis, Keratitis, Hyper... |
ORPHA:182 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule |
ORPHA:346 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:37042 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... |
ORPHA:793 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Pneumonia |
OMIM:617638 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Ichthyosis |
OMIM:615022 |
Dowling-Degos Disease |
|
Hyperkeratotic papule, Pruritus, Acne inversa, Arthritis, Hyperkeratosis, Skin vesicle |
ORPHA:79145 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Psoriasiform dermatitis, Hypoplasia of the thymus, Interface hepatitis, Autoimmune hemolytic anemia |
OMIM:243150 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Netherton Syndrome |
|
Eczema, Acanthosis nigricans, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Ski... |
ORPHA:634 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Dry skin, Hyperkeratosis |
ORPHA:1028 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:618546 |
Immunodeficiency 66 |
|
Recurrent skin infections, Pustule |
OMIM:618847 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke... |
ORPHA:2200 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Redundant skin |
OMIM:301021 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Eczema, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Erythroderma, Pruritus, Follicular hyperkeratosis, Generalized ichthyosis |
OMIM:608649 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Dry skin, Acanthosis nigricans |
OMIM:618527 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis, Palmoplantar hy... |
ORPHA:79501 |
Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis |
OMIM:615577 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis |
OMIM:613148 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections |
OMIM:617744 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Atopic dermatitis, Psoriasiform dermatitis, Cholangitis, Allergic rhinitis, Pneumonia, Bronchiect... |
ORPHA:183675 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Palmoplantar keratoderma, Erythema, Hypergranulosis, Congenital nonbullous ichthyosiform erythrod... |
OMIM:242100 |
Familial Keratoacanthoma |
|
Skin ulcer, Hyperkeratosis |
ORPHA:493 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Keratoconjunctivitis sicca, Eczema, Thin skin, Inflammatory abnormality of the eye, Hy... |
ORPHA:238468 |
Porokeratosis |
|
Pruritus, Hyperkeratosis |
ORPHA:79358 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Pustule, Septic arthritis |
ORPHA:36237 |
Oral Erosive Lichen |
|
Dry skin, Erythema |
ORPHA:31142 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Psoriasiform dermatitis, Pustule, Chapped lip, Erythema, Recurrent bacterial skin infections, Sca... |
ORPHA:294023 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Psoriasiform lesion, Pruritus, Oligoarthritis, Sacroiliac arthritis, Ant... |
ORPHA:85436 |
Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Hyperkeratosis |
OMIM:618625 |
Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... |
OMIM:618282 |
Chronic Recurrent Multifocal Osteomyelitis |
|
Palmoplantar pustulosis, Osteomyelitis |
OMIM:259680 |
Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema |
OMIM:618116 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash |
OMIM:619175 |
Omenn Syndrome |
|
Erythroderma, Pneumonia, Pruritus, Thickened skin, Thyroiditis, Dry skin |
ORPHA:39041 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Osteomyelitis |
ORPHA:36386 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Decreased proportion of class-switched memory B cells, Recurrent otitis media,... |
OMIM:618944 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Pneumonia |
OMIM:269840 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Epidermal hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Plantar hyperkeratosis |
OMIM:104100 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands |
|
Dry skin, Palmoplantar hyperkeratosis |
OMIM:206600 |
Harlequin Ichthyosis |
|
Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis, Hyperkeratosis |
ORPHA:457 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Pruritus, Hepatitis, Erythema, Skin rash, Hyperkeratosis, Skin ulcer |
ORPHA:1334 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, Aplastic anemia... |
OMIM:300635 |
Darier-White Disease |
|
Pruritus, Subungual hyperkeratotic fragments, Acantholysis, Acrokeratosis |
OMIM:124200 |
Elastoderma |
|
Eczema, Erysipelas, Cutis laxa, Premature skin wrinkling |
ORPHA:228240 |
Pemphigus Vulgaris |
|
Acantholysis, Recurrent cutaneous abscess formation |
ORPHA:704 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Bronchiectasis, Recurrent otitis media, Abnormal lymphocyte morphology, ... |
ORPHA:293978 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Erythroderma, Keratitis, Follicular hyperkeratosis, Scaling skin, Dry skin |
OMIM:308205 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Dry skin, Acanthosis nigricans |
ORPHA:3085 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... |
OMIM:148700 |
Rhizomelic Chondrodysplasia Punctata |
|
Dry skin, Ichthyosis |
ORPHA:177 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Erythema, Congenital ichthyosiform erythroderma, Parakeratosis, Hyperkeratosis |
OMIM:308050 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis |
OMIM:616029 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Thickened skin, Angular cheilitis, Recurrent cutaneous fungal infections, Recurrent bacterial ski... |
ORPHA:495 |
Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Hyperkeratosis |
ORPHA:530 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin, Thin skin |
OMIM:617364 |
Keratoderma Hereditarium Mutilans |
|
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:494 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Eczema |
OMIM:233810 |
Popov-Chang syndrome |
|
Dry skin, Recurrent otitis media, Hyperkeratosis |
OMIM:618428 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus |
ORPHA:330064 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Recurrent otitis media, Recur... |
ORPHA:277 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis |
OMIM:221700 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Dry skin, Ichthyosis |
OMIM:616943 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Skin ulcer |
ORPHA:69126 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Psoriasiform dermatitis, B lymphocytopenia, Recurrent aspiration pneumonia, Chronic oral candidia... |
ORPHA:221139 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia |
OMIM:618963 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderma |
OMIM:613576 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Folliculitis, Enterocolitis |
OMIM:612567 |
Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Hyper... |
OMIM:601675 |
Acrokeratosis Verruciformis Of Hopf |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
Intermediate Uveitis |
|
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis |
ORPHA:279914 |
Meige Disease |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Skin ulcer, Recurrent skin ... |
ORPHA:90186 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... |
OMIM:612260 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thickened skin, Skin rash, Thin skin |
ORPHA:1658 |
Oculotrichodysplasia |
|
Scaling skin, Dry skin |
OMIM:257960 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Eczema, Ichthyosis |
ORPHA:3055 |
Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Skin rash |
OMIM:124950 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Thrombocytosis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... |
OMIM:604416 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Follicular hyperkeratosis, Angular cheilitis, Skin vesicle |
OMIM:613102 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Pyoderma gangrenosum, Recurrent skin infections, Recurrent pneumonia, Recurrent s... |
OMIM:616576 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal absce... |
OMIM:618108 |
Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
Xeroderma Pigmentosum Variant |
|
Dry skin, Keratitis |
ORPHA:90342 |
Dermoodontodysplasia |
|
Dry skin, Thin skin |
ORPHA:1660 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Noonan Syndrome 8 |
|
Webbed neck, Eczema, Palmoplantar cutis laxa, Hyperkeratosis |
OMIM:615355 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, Pneumonia, Chronic otitis media, Skin ulcer, Recurrent bacterial skin infectio... |
ORPHA:217390 |
H Syndrome |
|
Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis, Ichthyosis, Scleroderma |
ORPHA:168569 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Dry skin, Inflammation of the large intestine, Hyperkeratosis |
OMIM:614576 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Hyperparakeratosis |
ORPHA:276280 |
Porphyria Cutanea Tarda, Type I |
|
Eczema |
OMIM:176090 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Leukopenia, Monocytosis, Refractory anemia, Acute myeloid leukemia |
OMIM:616871 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Erythema |
ORPHA:90159 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Subungual hyperkerat... |
ORPHA:69087 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis, Dry skin |
OMIM:104570 |
Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Otitis media, Inflammator... |
ORPHA:229717 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Dry skin, Acanthosis nigricans |
OMIM:268020 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Pruritus, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema |
OMIM:613960 |
Spinocerebellar Ataxia Type 42 |
|
Psoriasiform dermatitis |
ORPHA:458803 |
Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Dry skin |
OMIM:618535 |
Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Folliculitis, Palmoplantar keratoderma, Keratitis, Facial erythema, Blepharitis, Conjunctivitis |
OMIM:612843 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Crusting erythematous dermatitis, Palmoplantar keratosis with erythema and scale, Erythema, Thin ... |
ORPHA:158673 |
Familial Melanoma |
|
Dry skin |
ORPHA:618 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Blepharitis, Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:602400 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Dry skin |
OMIM:129490 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Hyperkeratotic papule, Pruritus, Skin vesicle |
ORPHA:79410 |
Mednik Syndrome |
|
Ichthyosis, Hyperkeratosis |
ORPHA:171851 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Dry skin, Acanthosis nigricans |
OMIM:262190 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin |
OMIM:614450 |
Trichodysplasia-Xeroderma Syndrome |
|
Dry skin |
ORPHA:3361 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Skin ulcer |
ORPHA:542592 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Milroy Disease |
|
Erysipelas, Hyperkeratosis |
ORPHA:79452 |
Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
Reticular Dysgenesis |
|
Chronic otitis media, Skin ulcer, Skin rash |
ORPHA:33355 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Myxedema |
|
Dry skin |
OMIM:255900 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Colitis |
OMIM:616744 |
Reynolds Syndrome |
|
Keratoconjunctivitis sicca, Infectious encephalitis, Pruritus, Arthritis, Sclerodactyly, Skin ras... |
ORPHA:779 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Pruritus, Recurrent skin infections, Dry skin |
ORPHA:94059 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Erythroderma, Pruritus, Palmoplantar keratoderma, Keratitis, Ichthyosis |
ORPHA:79394 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Immunodeficiency 13 |
|
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Decreased proport... |
OMIM:615518 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Rheumatoid arthritis, Skin ulcer, Skin ve... |
ORPHA:48104 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Erythema nodosum |
OMIM:611762 |
Leopard Syndrome 2 |
|
Dry skin, Webbed neck |
OMIM:611554 |
Cortisone Reductase Deficiency 1 |
|
Acne |
OMIM:604931 |
Immunodeficiency 31C |
|
Eczema, Lymphopenia, Chronic mucocutaneous candidiasis, Autoimmune hemolytic anemia |
OMIM:614162 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Skin ulcer, Acral ulceration |
ORPHA:139578 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Eczema, Macrocytic anemia, Megaloblastic anemia, Septic arthritis, Recurrent pneu... |
OMIM:617780 |
Adiposis Dolorosa |
|
Dry skin, Recurrent skin infections, Arthritis |
ORPHA:36397 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
Cutaneous Small Vessel Vasculitis |
|
Purpura, Recurrent skin infections, Skin rash, Erythema |
ORPHA:889 |
Ramon Syndrome |
|
Hyperkeratosis |
ORPHA:3019 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, M... |
OMIM:609628 |
Pachyonychia Congenita 3 |
|
Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis |
OMIM:615726 |
Laryngoonychocutaneous Syndrome |
|
Skin ulcer |
OMIM:245660 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin |
ORPHA:1035 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Chronic oral candidiasis, ... |
OMIM:300400 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Eosinophilia |
OMIM:243700 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Skin ulcer, Hyperkeratosis |
ORPHA:1806 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79397 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
Arthrogryposis And Ectodermal Dysplasia |
|
Dry skin, Hyperkeratosis |
OMIM:601701 |
Pachyonychia Congenita 2 |
|
Folliculitis, Palmoplantar hyperkeratosis, Subungual hyperkeratosis |
OMIM:167210 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Dry skin |
ORPHA:2617 |
Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Normocytic anemia, Mem... |
ORPHA:49041 |
Xfe Progeroid Syndrome |
|
Dry skin |
OMIM:610965 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Skin rash, Thrombocytopenia, Hemophagocytosis, Conjunctivitis |
OMIM:603552 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
9P13 Microdeletion Syndrome |
|
Dry skin, Recurrent otitis media |
ORPHA:324313 |
Acrodermatitis Enteropathica |
|
Pustule, Cheilitis, Erythema, Dry skin, Blepharitis, Skin ulcer, Conjunctivitis |
ORPHA:37 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Chronic oral candidiasis,... |
OMIM:150550 |
Aicardi-Goutieres Syndrome 3 |
|
Chilblains, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Thickened skin, Hepatitis, Hashimoto thyroiditis |
ORPHA:436252 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Oligoarthritis, Reduced natural killer cell count, Decreased proportion of ... |
OMIM:619510 |
Cardiofaciocutaneous Syndrome 3 |
|
Webbed neck, Hyperkeratosis |
OMIM:615279 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Eczema, Superficial dermal perivascular inflammatory infiltrate, Seborrheic dermatitis, Pruritus,... |
ORPHA:83617 |
Limb-Mammary Syndrome |
|
Chronic irritative conjunctivitis, Psoriasiform dermatitis, Dry skin, Blepharitis |
ORPHA:69085 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Thickened skin, Palmoplantar keratoderma, Skin ulcer, Erythema |
ORPHA:659 |
Refsum Disease |
|
Dry skin, Ichthyosis |
ORPHA:773 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Indolent Systemic Mastocytosis |
|
Pruritus, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increa... |
ORPHA:98848 |
Syndromic Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis |
ORPHA:281090 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Pustule, Stomatitis, Osteomyelitis, Skin rash, Hyperkeratosis |
OMIM:612852 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Dry skin |
ORPHA:95715 |
Complex Regional Pain Syndrome |
|
Dry skin, Erythema |
ORPHA:83452 |
Hidrotic Ectodermal Dysplasia |
|
Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,... |
ORPHA:189 |
Kanzaki Disease |
|
Dry skin, Hyperkeratosis |
OMIM:609242 |
Corneodermatoosseous Syndrome |
|
Erythroderma, Palmoplantar hyperkeratosis |
OMIM:122440 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Erythema Elevatum Diutinum |
|
Skin rash, Skin vesicle |
ORPHA:90000 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Pneumonia, Chronic oral candidiasis, Chronic mucocutaneous... |
ORPHA:276 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer, Keratitis |
OMIM:221810 |
Methylmalonic Acidemia With Homocystinuria |
|
Skin rash |
ORPHA:26 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Stomatitis, Lymphadenitis, Chronic oral candidiasis, Chronic mucocutaneous candidiasis... |
ORPHA:911 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Sclerodactyly, Scaling skin, Facial erythema, Dry skin |
ORPHA:1010 |
Jung Syndrome |
|
Dry skin |
ORPHA:2321 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Schnitzler Syndrome |
|
Leukocytosis, Pruritus, Anemia, Arthritis, Splenomegaly, Skin rash |
ORPHA:37748 |
Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Psoriasiform lesion, Recurrent cutaneous abscess formation, Seborrheic... |
OMIM:618131 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, Arthritis, Ost... |
ORPHA:47 |
Ddost-Cdg |
|
Dry skin |
ORPHA:300536 |
Rare Cutaneous Lupus Erythematosus |
|
Deep dermal perivascular inflammatory infiltrate, Pustule, Superficial dermal perivascular inflam... |
ORPHA:535 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Atopic dermatitis, B lymphocytopenia, Rhinitis, Otitis media, Decreased proportion of ... |
ORPHA:70593 |
Acrogeria |
|
Excessive wrinkled skin, Skin ulcer, Thin skin |
ORPHA:2500 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Arthritis, Uveitis, Skin rash, Conjunctivitis |
OMIM:120100 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... |
OMIM:152700 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis |
ORPHA:1883 |
Neutrophilic Dermatosis, Acute Febrile |
|
Cystic acne, Pyoderma gangrenosum, Panniculitis, Acne inversa, Erythema |
OMIM:608068 |
Cardiofaciocutaneous Syndrome |
|
Excessive wrinkled skin, Webbed neck, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Dry s... |
ORPHA:1340 |
Warty Dyskeratoma |
|
Epidermal thickening, Acrokeratosis, Acantholysis |
ORPHA:69745 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura, Thin skin |
ORPHA:743 |
Pilodental Dysplasia With Refractive Errors |
|
Follicular hyperkeratosis |
OMIM:262020 |
Skin Fragility-Woolly Hair Syndrome |
|
Palmoplantar keratosis with erythema and scale, Acantholysis |
OMIM:607655 |
Idiopathic Trachyonychia |
|
Atopic dermatitis, Ichthyosis, Circumungual hyperkeratosis |
ORPHA:79153 |
Spinocerebellar Ataxia 34 |
|
Hyperkeratosis |
OMIM:133190 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Pneumonia, Chronic oral candidiasis, Hepatitis, Decreased proportion of CD3-positiv... |
ORPHA:169160 |
Cutaneous Collagenous Vasculopathy |
|
Pruritus, Erythema, Skin rash, Petechiae |
ORPHA:280779 |
Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
Trichothiodystrophy 3, Photosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ichthyosis |
OMIM:616395 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Epidermodysplasia Verruciformis |
|
Seborrheic dermatitis, Recurrent skin infections, Pustule |
ORPHA:302 |
Blau Syndrome |
|
Abnormal inflammatory response, Pericarditis, Synovitis, Posterior uveitis, Retrobulbar optic neu... |
ORPHA:90340 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu... |
OMIM:242700 |
Juvenile Dermatomyositis |
|
Pericarditis, Myositis, Pruritus, Erythema, Arthritis, Skin rash, Dry skin, Skin ulcer |
ORPHA:93672 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Chronic sinusitis, Skin ulcer, Bronchiectasis |
OMIM:604571 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Synovitis, Arthritis, Serositis, Skin rash, Glomerulonephritis |
ORPHA:567544 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin |
ORPHA:90156 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Pustule |
OMIM:616069 |
Xeroderma Pigmentosum |
|
Thickened skin, Erythema, Thin skin, Keratitis, Hyperkeratosis, Dry skin, Blepharitis |
ORPHA:910 |
Hydroxykynureninuria |
|
Dry skin, Stomatitis |
ORPHA:79155 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Otitis media, Juvenile rh... |
ORPHA:275 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Pruritus, Cheilitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Recurrent ... |
ORPHA:158668 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Eczema |
OMIM:177000 |
Noonan Syndrome 5 |
|
Dry skin, Webbed neck |
OMIM:611553 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema |
OMIM:615895 |
Estrogen Resistance |
|
Acanthosis nigricans, Acne |
OMIM:615363 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Erythema, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Skin rash |
OMIM:147060 |
Van Den Bosch Syndrome |
|
Acrokeratosis, Recurrent skin infections |
ORPHA:3417 |
Tularemia |
|
Brain abscess, Leukocytosis, Pneumonia, Anemia, Otitis media, Inflammatory abnormality of the eye... |
ORPHA:3392 |
Distal Trisomy 6P |
|
Dry skin |
ORPHA:1745 |
Immunodeficiency 70 |
|
B lymphocytopenia, Furuncle, Decreased proportion of CD4-positive helper T cells, Colitis, Recurr... |
OMIM:618969 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive... |
OMIM:617241 |
Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:572 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Eczema, Pneumonia, Splenomegaly |
OMIM:607271 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Dry skin |
OMIM:300860 |
Noonan Syndrome 13 |
|
Dry skin, Webbed neck, Recurrent otitis media |
OMIM:619087 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis |
ORPHA:2583 |
Cinca Syndrome |
|
Leukocytosis, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinophilia |
OMIM:607115 |
Tangier Disease |
|
Dry skin |
OMIM:205400 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Dry skin |
OMIM:614940 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
Costello Syndrome |
|
Lack of skin elasticity, Acanthosis nigricans, Redundant skin, Hyperkeratosis |
ORPHA:3071 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Chronic otitis media, Pruritus, Osteomyelitis, Skin rash, Skin ulcer, Skin vesicle |
ORPHA:2314 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Eosinophilia, Neutropenia, Pneumonia, Monocytosis, Rhinitis, Leukem... |
ORPHA:486 |
Coffin-Siris Syndrome 8 |
|
Eczema |
OMIM:618362 |
Spontaneous Periodic Hypothermia |
|
Pallor, Skin rash |
ORPHA:29822 |
Dermatitis Herpetiformis |
|
Pruritus, Eczema, Erythema, Skin vesicle |
ORPHA:1656 |
Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Eczema, Erythema |
ORPHA:79278 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Dry skin |
ORPHA:226313 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Seborrheic dermatitis, Erythema, Arthritis, Redundant skin, Palmoplantar h... |
OMIM:259100 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymp... |
ORPHA:169154 |
Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Eec Syndrome |
|
Keratitis, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Blepharitis |
ORPHA:1896 |
Prolidase Deficiency |
|
Eczema, Petechiae, Recurrent pneumonia, Crusting erythematous dermatitis, Skin ulcer |
OMIM:170100 |
Microscopic Polyangiitis |
|
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Erythema, Arthritis, Pancreatitis, Increased ... |
ORPHA:727 |
Adult Syndrome |
|
Dry skin, Eczema, Thin skin, Conjunctivitis |
OMIM:103285 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Abscess, Splenomegaly, Crohn's disease, Perianal abscess, Hepatosplenomega... |
OMIM:618935 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Eosinophilia |
OMIM:618523 |
Reactive Arthritis |
|
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Hyperkerato... |
ORPHA:29207 |
Pgm3-Cdg |
|
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... |
ORPHA:443811 |
Juvenile Hyaline Fibromatosis |
|
Skin ulcer |
ORPHA:2028 |
Tooth Agenesis, Selective, 4 |
|
Dry skin |
OMIM:150400 |
Pseudopelade Of Brocq |
|
Cheilitis, Recurrent skin infections |
ORPHA:129 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Blepharitis |
OMIM:615527 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Dry skin, Blepharitis, Keratitis |
ORPHA:163934 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Pustule, Perianal erythema, Perioral erythema, Blepharitis |
OMIM:614328 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer, Osteomyelitis |
ORPHA:2218 |
Cyclic Neutropenia |
|
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... |
ORPHA:2686 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Pustule, Syno... |
ORPHA:77297 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:28378 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma, Ichthyosis |
OMIM:618840 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arthritis, Osteomyelitis... |
ORPHA:33110 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Colitis, Recurrent pneumonia, Bronchiectasis |
OMIM:301220 |
Squalene Synthase Deficiency |
|
Dry skin |
OMIM:618156 |
Aicardi-Goutieres Syndrome 9 |
|
Dry skin, Chilblains, Pericarditis, Acute pancreatitis |
OMIM:619487 |
Pachyonychia Congenita |
|
Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Angular chei... |
ORPHA:2309 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Keratoconjunctivitis sicca, Recurrent bacterial skin infections, Ichthyosis, Hyperkeratosis |
OMIM:148210 |
Yao Syndrome |
|
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash |
OMIM:617321 |
Mpdu1-Cdg |
|
Scaling skin, Eczema, Ichthyosis |
ORPHA:79323 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... |
OMIM:301054 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczema, Thyroiditis |
OMIM:618985 |
19Q13.11 Microdeletion Syndrome |
|
Dry skin, Thin skin |
ORPHA:217346 |
Radio-Tartaglia Syndrome |
|
Dry skin, Striae distensae |
OMIM:619312 |
Koolen-De Vries Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:96169 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Erythema, Thin skin, Ichthyosis, Keratoconjunctivitis, Palmoplantar hyperkeratos... |
ORPHA:2907 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, Skin rash |
OMIM:618048 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperkeratosis |
OMIM:601812 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Skin rash |
ORPHA:220295 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Thin skin |
ORPHA:1810 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... |
ORPHA:139402 |
Agel Amyloidosis |
|
Keratoconjunctivitis sicca, Pruritus, Dry skin, Cutis laxa |
ORPHA:85448 |
Trichothiodystrophy |
|
Keratoconjunctivitis sicca, Eczema, Ichthyosis, Dry skin, Congenital exfoliative erythroderma, Co... |
ORPHA:33364 |
Papillon-Lefèvre Syndrome |
|
Pustule, Chronic furunculosis, Recurrent cutaneous abscess formation, Palmoplantar keratoderma, P... |
ORPHA:678 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Recurrent otitis media... |
OMIM:618986 |
Leukocyte Adhesion Deficiency, Type Iii |
|