Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
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 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:146750 |
Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... |
OMIM:148730 |
Vohwinkel Syndrome, Variant Form |
|
Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis |
OMIM:604117 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:270220 |
Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome |
|
Palmoplantar keratoderma, Ichthyosis |
ORPHA:281201 |
Palmoplantar Keratoderma, Punctate Type Ii |
|
Spinous keratoses of palms and soles, Porokeratosis |
OMIM:175860 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin |
OMIM:617571 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis |
OMIM:148600 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:604777 |
Hypotrichosis Simplex Of The Scalp |
|
Fine hair, Atopic dermatitis, Alopecia of scalp, Pruritus, Parakeratosis, Slow-growing scalp hair... |
ORPHA:90368 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:613943 |
Porokeratosis Of Mibelli |
|
Pruritus, Porokeratosis, Hyperkeratosis |
ORPHA:735 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis |
OMIM:173200 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Palmoplantar Keratoderma, Epidermolytic |
|
Localized epidermolytic hyperkeratosis, Increased circulating IgE level, Palmar hyperkeratosis, P... |
OMIM:144200 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Epidermolytic Hyperkeratosis |
|
Erythroderma, Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkera... |
OMIM:113800 |
Cole Disease |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615522 |
Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Abnormal... |
ORPHA:79147 |
Psoriasis 2 |
|
Psoriasiform dermatitis, Parakeratosis, Hyperkeratosis, Scaling skin, Epidermal acanthosis |
OMIM:602723 |
Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin, Epidermal acanthosis |
ORPHA:464318 |
Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... |
OMIM:613736 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Edema, Recurrent skin infections |
ORPHA:345 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Atopic dermatitis, Dry skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis... |
ORPHA:530838 |
Peeling Skin Syndrome 1 |
|
Onycholysis, Pruritus, Brittle hair, Erythema, Abnormality of hair texture, Increased circulating... |
OMIM:270300 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, R... |
OMIM:615508 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:612281 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis |
ORPHA:79503 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform ery... |
ORPHA:79395 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... |
OMIM:613953 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis, Ep... |
OMIM:133200 |
Peeling Skin Syndrome 4 |
|
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis |
OMIM:607936 |
Acrokeratosis Verruciformis |
|
Acrokeratosis, Epidermal acanthosis, Hyperkeratosis |
OMIM:101900 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis |
OMIM:618531 |
Ichthyosis Vulgaris |
|
Dry skin, Eczematoid dermatitis, Ichthyosis, Absent keratohyalin granules |
OMIM:146700 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Congenital ichthyosiform erythroderma |
OMIM:615024 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Increase... |
OMIM:618944 |
Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritu... |
ORPHA:498359 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma, Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Epidermal acanthosis |
OMIM:615022 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Nail dystrophy, Increased circulating IgE level, Abnormal toenail morphology, Hyperkera... |
ORPHA:89843 |
Acquired Ichthyosis |
|
Pruritus, Palmoplantar keratoderma, Erythema, Recurrent skin infections, Ichthyosis, Hyperkeratos... |
ORPHA:454 |
Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis, Epidermal acanthosis |
OMIM:615598 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis, Hyperkeratosis |
OMIM:615028 |
Bazex Syndrome |
|
Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, S... |
ORPHA:166113 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Acne inversa, Hyperkeratosis |
OMIM:617337 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis, Epidermal acanthosis |
OMIM:617525 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... |
ORPHA:312 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis |
ORPHA:38 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus, Erythema, Morphea, Scaling skin, Scleroderma |
ORPHA:90158 |
Bathing Suit Ichthyosis |
|
Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic... |
ORPHA:100976 |
Pityriasis Rubra Pilaris |
|
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... |
ORPHA:2897 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er... |
ORPHA:87503 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Increased... |
ORPHA:90280 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... |
ORPHA:284426 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Erythroderma, Pruritus, Polyhydramnios, Follicular hyperkeratosis, Generalized... |
OMIM:608649 |
Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Ichthyosis, Fa... |
OMIM:603165 |
Lymphatic Malformation 3 |
|
Recurrent skin infections, Lymphedema |
OMIM:613480 |
Netherton Syndrome |
|
Fine hair, Eczema, Acanthosis nigricans, Sparse eyelashes, Abnormal hair morphology, Erythroderma... |
ORPHA:634 |
Ichthyosis With Confetti |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:609165 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... |
ORPHA:499 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Pustule, Pruritus, Erythema, Scaling skin, C... |
ORPHA:79481 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis, Scaling skin, Epidermal acanthosis |
OMIM:616295 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis |
OMIM:212360 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema |
OMIM:147050 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Dry skin, Acne, Follicular hyperkeratosis, Facial erythema, Contact dermat... |
ORPHA:3406 |
Classic Mycosis Fungoides |
|
Eczema, Pruritus, Erythema, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer |
ORPHA:2584 |
Netherton Syndrome |
|
Erythroderma, Angioedema, Decreased circulating IgG level, Brittle hair, Hypernatremic dehydratio... |
OMIM:256500 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Dry skin, Cutis laxa, Alopecia of scalp, Absent pubic hair, Sparse e... |
ORPHA:2269 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa, Epidermal acanthosis |
ORPHA:79148 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Pruritus, Erythema, Abnormal epidermal morphology, Follicular hyperkeratosis |
ORPHA:79100 |
Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Scaling skin, Erythroderma, Hyperkeratosis |
OMIM:609180 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Pruritus, Erythema, Parakeratosis, Abnormality of tumor necrosis factor secretion, E... |
ORPHA:83453 |
Riddle Syndrome |
|
Dry skin, Decreased circulating IgG level |
OMIM:611943 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Pachyonychia Congenita 4 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615728 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Odontoonychodermal Dysplasia |
|
Fine hair, Anonychia, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Ery... |
OMIM:257980 |
Porokeratosis 7, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:614714 |
Acral Self-Healing Collodion Baby |
|
Erythema, Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Edema of the dorsum of... |
ORPHA:281127 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Sparse eyelashes, Alopecia, Parakeratosis, Orthokeratosis, Thick hair, Ichthyosis, Dry skin, Spar... |
OMIM:607626 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Candidiasis, Familial, 2 |
|
Increased circulating IgE level, Chronic oral candidiasis, Deep dermatophytosis |
OMIM:212050 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... |
ORPHA:64745 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, Pneumonia, Chronic otitis media, Skin ulcer, Increased circulating IgE level, ... |
ORPHA:217390 |
Immunodeficiency 72 With Autoinflammation |
|
Increased circulating IgE level, Molluscum contagiosum, Increased circulating IgG level |
OMIM:618982 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus |
ORPHA:330064 |
Sézary Syndrome |
|
Erythroderma, Abnormal immunoglobulin level, Nail dystrophy, Palmoplantar keratoderma, Alopecia, ... |
ORPHA:3162 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Pustule, Perianal erythema, Increased circulating IgE level, Perioral erythema, Par... |
OMIM:614328 |
Immunodeficiency 55 |
|
Dry skin, Eczema, Recurrent skin infections, Ichthyosis |
OMIM:617827 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis, Pruritus |
ORPHA:505 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis |
OMIM:615023 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... |
ORPHA:3216 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
Lamellar Ichthyosis |
|
Erythroderma, Chronic otitis media, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis... |
ORPHA:313 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:2271 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... |
OMIM:617388 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Oculotrichodysplasia |
|
Dry skin, Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... |
OMIM:257960 |
Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Psoriasiform lesi... |
OMIM:618131 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Erythema, Skin rash, Hyperkeratosis, Dry skin |
ORPHA:317 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... |
OMIM:606843 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:615767 |
Sjögren-Larsson Syndrome |
|
Erythema, Inflammatory abnormality of the eye, Ichthyosis, Hyperkeratosis, Dry skin |
ORPHA:816 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Erythema, Chronic mucocutaneous candidiasis, Increased circulating IgE lev... |
OMIM:147060 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer |
ORPHA:2337 |
Recessive X-Linked Ichthyosis |
|
Dry skin, Ichthyosis, Hyperkeratosis |
ORPHA:461 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Pruritus, Dry skin, Cutis laxa |
OMIM:105250 |
Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Edema, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis |
ORPHA:455 |
Immunodeficiency 25 |
|
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Posterior blepharitis, Palmopl... |
OMIM:300918 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Chilblains, Scaling skin |
OMIM:612952 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin |
OMIM:614457 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Palmoplantar keratoderma, Punctate keratitis, Ichthyosis, Hyperkeratosis |
OMIM:602540 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Parakeratosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
Huriez Syndrome |
|
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly |
ORPHA:384 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:618546 |
White Sponge Nevus 2 |
|
Edema, Hyperparakeratosis, Epidermal acanthosis |
OMIM:615785 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... |
OMIM:601952 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin, Pruritus |
OMIM:617920 |
Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema, Decreased circulating antibody level, Bone marrow hypocellularity |
OMIM:618116 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... |
ORPHA:2199 |
Cutaneous Mastocytoma |
|
Peau d'orange, Angioedema, Pruritus, Thickened skin, Erythema, Maculopapular exanthema, Scaling skin |
ORPHA:79455 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Folliculitis, Palmoplantar keratoderma, Keratitis, Follicular hyperkeratosis, Facial erythema, Dr... |
OMIM:308800 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... |
OMIM:617241 |
Congenital Lethal Erythroderma |
|
Dry skin, Congenital exfoliative erythroderma, Ichthyosis, Hypoalbuminemia |
ORPHA:1954 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function, Inflam... |
ORPHA:277 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Epidermal acanthosis, Parakeratosis |
ORPHA:199267 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Dowling-Degos Disease 4 |
|
Hypergranulosis, Epidermal acanthosis |
OMIM:615696 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Psoriasiform lesion, Increased circulating IgA level, Decreased lymphocyte prolifer... |
ORPHA:169154 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema |
OMIM:618985 |
Olmsted Syndrome 2 |
|
Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkerat... |
OMIM:619208 |
Coxoauricular Syndrome |
|
Microtia, Hearing impairment |
OMIM:122780 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis |
OMIM:618339 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Lichen Planus Pemphigoides |
|
Pruritus, Skin vesicle, Hyperkeratosis, Blepharitis, Conjunctivitis |
ORPHA:254478 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke... |
ORPHA:2200 |
Pili Torti-Onychodysplasia Syndrome |
|
Eczema, Brittle hair, Palmoplantar keratoderma, Alopecia, Absent eyelashes, Absent eyebrow, Nail ... |
ORPHA:2890 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Anonychia With Flexural Pigmentation |
|
Follicular hyperkeratosis, Hyperkeratosis |
ORPHA:69125 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Parana Hard Skin Syndrome |
|
Thickened skin, Hyperkeratosis |
ORPHA:2812 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratosis |
ORPHA:79399 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Decreased circulating IgA level, Chronic oral cand... |
OMIM:606367 |
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:607602 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Palmoplantar hyperkeratosis |
OMIM:604536 |
Iga Pemphigus |
|
Pustule, Acantholysis, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of th... |
ORPHA:555905 |
Severe Combined Immunodeficiency, X-Linked |
|
Agammaglobulinemia, Decreased circulating IgA level, Reduced natural killer cell activity, Decrea... |
OMIM:300400 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:89838 |
Trichothiodystrophy 1, Photosensitive |
|
Fine hair, Tiger tail banding, Small nail, Erythroderma, Decreased circulating IgG level, Brittle... |
OMIM:601675 |
Porokeratosis 3, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175900 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... |
ORPHA:69126 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Blepharitis |
OMIM:615527 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Erythroderma, Pruritus, Palmoplantar keratoderma, Keratitis, Ichthyosis |
ORPHA:79394 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash, Skin vesicle |
ORPHA:90000 |
Harlequin Ichthyosis |
|
Erythroderma, Ichthyosis, Hyperkeratosis, Dehydration, Congenital ichthyosiform erythroderma |
ORPHA:457 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgM level, Increased circulating IgG level |
OMIM:619220 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating antibody level, Ichthyosis |
OMIM:618495 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Erythema, Parakeratosis, Elevated ... |
OMIM:614204 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Increased circulating IgE level, Eczema |
OMIM:618523 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Decreased circulating IgG level |
OMIM:618973 |
Hypotrichosis 6 |
|
Pruritus, Follicular hyperkeratosis, Erythema |
OMIM:607903 |
Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D... |
ORPHA:3361 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Abnormal hair morphology, Dystrophic fingernails, Pruritus, Increased circulating IgE lev... |
ORPHA:2314 |
Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
Phenylketonuria |
|
Dry skin, Eczema, Scleroderma |
OMIM:261600 |
Immunodeficiency 15A |
|
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Cut... |
OMIM:618204 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Pruritus, Arthritis, Skin rash, Skin ulcer |
ORPHA:231 |
Microcephaly 6, Primary, Autosomal Recessive |
|
Microtia |
OMIM:608393 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Pruritus, Erythema, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis |
OMIM:615821 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Pyoderma gangrenosum, Decreased circulating antibody level, Recurrent skin infect... |
OMIM:616576 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Pneumonia |
OMIM:617638 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Dry skin, Eczema |
OMIM:612947 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:247630 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin |
ORPHA:90156 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... |
OMIM:608106 |
Porokeratosis 1, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175800 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... |
OMIM:148700 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Erythema, Acantholysis, Skin vesicle |
ORPHA:2841 |
Immunodeficiency 64 |
|
Defective T cell proliferation, Increased circulating IgA level, Decreased circulating IgG level,... |
OMIM:618534 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Erythema migrans, Parakeratosis, Skin vesicle |
ORPHA:158681 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacter... |
ORPHA:90186 |
Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Peau d'orange, Pruritus, Thickened skin, Scaling skin |
ORPHA:79456 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hyperkeratotic papule, Nail dystrophy, Palmoplantar keratoderma, Abnormal epidermal morphology, H... |
ORPHA:79501 |
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis |
ORPHA:3052 |
Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level |
OMIM:619632 |
Rare Cutaneous Lupus Erythematosus |
|
Deep dermal perivascular inflammatory infiltrate, Pustule, Superficial dermal perivascular inflam... |
ORPHA:535 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:605258 |
Popov-Chang syndrome |
|
Dry skin, Decreased circulating antibody level, Coarse hair, Hyperkeratosis |
OMIM:618428 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Erythroderma, Keratitis, Follicular hyperkeratosis, Scaling skin, Dry skin |
OMIM:308205 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis |
OMIM:148500 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Microtia |
OMIM:612138 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule |
ORPHA:346 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:606545 |
Hidrotic Ectodermal Dysplasia |
|
Sparse eyelashes, Palmoplantar keratoderma, Sparse pubic hair, Sparse hair, Palmoplantar hyperker... |
ORPHA:189 |
Tempi Syndrome |
|
Ascites, Increased circulating IgG level, Facial erythema, Transudative pleural effusion |
ORPHA:284227 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Abnormal hair morphology, Edema, Pedal edema |
OMIM:152800 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis, Hyperkeratosis |
OMIM:616029 |
Caspase 8 Deficiency |
|
Eczema, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced ly... |
OMIM:607271 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Decreased circulating total IgA, Pneumonia, Chronic oral candidiasis, Hepatitis, De... |
ORPHA:169160 |
Darier Disease |
|
Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Thickened skin, Acrokerat... |
ORPHA:218 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Overfolded helix, Mixed hearing impairment, Stenosis of the external auditory canal, Increased in... |
OMIM:612290 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Erythema |
ORPHA:90159 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Decreased specific antibody response to vaccination, Pneumon... |
OMIM:614700 |
Immunodeficiency 66 |
|
Recurrent skin infections, Pustule |
OMIM:618847 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Ecchymosis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectious ... |
ORPHA:540 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderm... |
OMIM:613576 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
Mpdu1-Cdg |
|
Elevated circulating creatine kinase concentration, Eczema, Scaling skin, Ichthyosis |
ORPHA:79323 |
Corneodermatoosseous Syndrome |
|
Erythroderma, Palmoplantar hyperkeratosis |
OMIM:122440 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Boutonneuse Fever |
|
Petechiae, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanth... |
ORPHA:83313 |
Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
Acrokeratosis Verruciformis Of Hopf |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis |
ORPHA:79151 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Erythema, Palmoplantar keratoderma, Hypergranulosis, Congenital nonbullous ichthyosiform erythrod... |
OMIM:242100 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustule, Increased circulating IgA level, Nail dystrophy, Erythema, Increased circulating IgG lev... |
OMIM:615934 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Kid Syndrome |
|
Conjunctivitis, Psoriasiform dermatitis, Keratoconjunctivitis sicca, Folliculitis, Recurrent cuta... |
ORPHA:477 |
Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Epidermodysplasia Verruciformis |
|
Seborrheic dermatitis, Recurrent skin infections, Pustule |
ORPHA:302 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis |
OMIM:613148 |
Reticular Dysgenesis |
|
Chronic otitis media, Skin ulcer, Decreased circulating antibody level, Skin rash |
ORPHA:33355 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
Igg4-Related Aortitis |
|
Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc... |
ORPHA:449400 |
Lichen Planopilaris |
|
Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis |
ORPHA:525 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Dry skin, Abnormal fi... |
ORPHA:248 |
Rat-Bite Fever |
|
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... |
ORPHA:31205 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Conductive hearing impairment, Abnormality of the pinna, Sensorineural hearing impairment, Microt... |
OMIM:618500 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Hirsutism, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulatin... |
OMIM:300861 |
Chronic Recurrent Multifocal Osteomyelitis |
|
Palmoplantar pustulosis, Osteomyelitis |
OMIM:259680 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Ichthyosis, Hyperkeratosis |
OMIM:612379 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
Dermoodontodysplasia |
|
Dry skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
Darier-White Disease |
|
Acrokeratosis, Subungual hyperkeratotic fragments, Pruritus, Acantholysis |
OMIM:124200 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:618987 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Apla... |
OMIM:300291 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Acanthosis nigricans |
ORPHA:411593 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Impaired T cell function, Decreased specific anti-polysaccharide antibody level, H... |
OMIM:614576 |
Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
Prolidase Deficiency |
|
Pruritus, Erythema, Palmoplantar keratoderma, Hyperkeratosis, Dry skin, Crusting erythematous der... |
ORPHA:742 |
Pgm3-Cdg |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Bronchiectasis, Chronic otitis media, Increased cir... |
ORPHA:443811 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Edema, Recurrent pneumonia, Dehydration, Epidermal acanthosis |
OMIM:616069 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Pustule, Septic arthritis |
ORPHA:36237 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Large earlobe, Conductive hearing impairment, Morphological abnormality of the middle ear, Overfo... |
ORPHA:79113 |
Porokeratosis |
|
Pruritus, Hyperkeratosis |
ORPHA:79358 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... |
OMIM:601859 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Dry skin, Sparse and thin eyebrow... |
OMIM:129490 |
Leopard Syndrome 3 |
|
Epidermal hyperkeratosis, Webbed neck, Posteriorly rotated ears, Sensorineural hearing impairment... |
OMIM:613707 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Sparse eyelashes, Absent hair, Ridged nail, Nail dystrophy, Palmoplantar keratoderma, Sparse eyeb... |
ORPHA:1010 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Abnormality of the outer ear, Microtia |
OMIM:248390 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Irida Syndrome |
|
Pallor, Ichthyosis, Hyperkeratosis |
ORPHA:209981 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... |
OMIM:617765 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
Dermatofibrosarcoma Protuberans |
|
Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Bronchiectasis, Erythema, Increased circulating IgG level, Chronic muc... |
OMIM:615816 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... |
OMIM:618282 |
Trichothiodystrophy 3, Photosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ichthyosis |
OMIM:616395 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate |
ORPHA:90283 |
Bacterial Toxic-Shock Syndrome |
|
Ecchymosis, Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Elevated cir... |
ORPHA:36234 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Increased circulating IgE level, Pleural effusion |
ORPHA:2902 |
Pemphigus Vulgaris |
|
Acantholysis, Recurrent cutaneous abscess formation |
ORPHA:704 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgA level, Abnormal immunoglobulin level, Decreased circulating IgG level, ... |
ORPHA:276 |
Omenn Syndrome |
|
Erythroderma, Pneumonia, Pruritus, Edema, Thickened skin, Thyroiditis, Dry skin |
ORPHA:39041 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Eczema, Petechiae |
OMIM:313900 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
Xeroderma Pigmentosum Variant |
|
Dry skin, Keratitis |
ORPHA:90342 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Low-set ears, Protruding ear, Short ear |
OMIM:614756 |
Dowling-Degos Disease |
|
Hyperkeratotic papule, Pruritus, Acne inversa, Arthritis, Hyperkeratosis, Skin vesicle |
ORPHA:79145 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Microtia |
OMIM:618158 |
Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Increased circulating IgE level, Eczema, Alopecia, Erythroderma |
OMIM:304790 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Abnormality of serum cytokine level, Pruritus, Recurrent sk... |
ORPHA:94059 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Microtia |
ORPHA:139450 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Chronic decreased circulating total IgG, Decreased circulating t... |
OMIM:613493 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level |
OMIM:247800 |
Branchiootic Syndrome 1 |
|
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Low-set ears... |
OMIM:602588 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Dry skin, Hyperkeratosis |
ORPHA:1028 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Lymphedema |
OMIM:615907 |
Immunodeficiency 27A |
|
Increased circulating IgM level, Increased circulating IgG level |
OMIM:209950 |
Meier-Gorlin Syndrome 8 |
|
Low-set ears, Microtia |
OMIM:617564 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Cheilitis, Pruritus, Chapped lip, Palmoplantar keratoderma, Follicular hyperkeratosis, Recurrent ... |
ORPHA:158668 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash |
OMIM:619175 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... |
ORPHA:39812 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Petechiae, Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating... |
OMIM:603909 |
Dermoodontodysplasia |
|
Fingernail dysplasia, Dry skin, Sparse scalp hair, Trichodysplasia, Sparse body hair, Toenail dys... |
ORPHA:1660 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating antibody level, Periorbital edema, Skin rash |
OMIM:618048 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:859 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Microtia |
OMIM:248910 |
Moynahan Syndrome |
|
Sensorineural hearing impairment, Hyperkeratosis |
ORPHA:2574 |
Immunodeficiency 50 |
|
Eczema |
OMIM:300988 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis |
ORPHA:36386 |
Keratoderma Hereditarium Mutilans |
|
Hearing impairment, Sensorineural hearing impairment, Ichthyosis, Honeycomb palmoplantar hyperker... |
ORPHA:494 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Folliculitis, Enterocolitis |
OMIM:612567 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... |
OMIM:618969 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Abnormality of neutrophil physiology, Skin ulcer |
ORPHA:542592 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Psoriasiform dermatitis, Pustule, Chapped lip, Erythema, Recurrent bacterial skin infections, Sca... |
ORPHA:294023 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:193670 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Microtia |
|
Abnormality of the pinna, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic h... |
ORPHA:83463 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Elastoderma |
|
Eczema, Erysipelas |
ORPHA:228240 |
Acrocephalopolydactyly |
|
Microtia |
ORPHA:221054 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Lymphedema |
ORPHA:79452 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, E... |
ORPHA:420741 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Pneumonia |
OMIM:618806 |
Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Decreased specific pneumococcal antibody level, Purpura,... |
OMIM:613496 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:618394 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Pruritus |
OMIM:254400 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Pustule, Stomatitis, Osteomyelitis, Skin rash, Hyperkeratosis, Elevated circulating C-reactive pr... |
OMIM:612852 |
Treacher Collins Syndrome 2 |
|
Conductive hearing impairment, Microtia |
OMIM:613717 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Ichthyosis, Slow-growing hair, Dry skin |
OMIM:616943 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Erythroderma, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alop... |
ORPHA:35173 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Psoriasiform lesion, Oligoarthritis, Pruritus, Sacroiliac arthritis, Ant... |
ORPHA:85436 |
Oral Erosive Lichen |
|
Cheilitis, Dry skin, Erythema |
ORPHA:31142 |
Olmsted Syndrome 1 |
|
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis |
OMIM:614594 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Keratoconjunctivitis sicca, Eczema, Inflammatory abnormality of the eye, Hyperkeratosi... |
ORPHA:238468 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... |
OMIM:615513 |
Wilson-Turner Syndrome |
|
Microtia |
ORPHA:3459 |
3-Hydroxyisobutyric Aciduria |
|
Microtia |
ORPHA:939 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Dry skin, Acanthosis nigricans |
OMIM:618527 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Dry skin, Acanthosis nigricans |
ORPHA:3085 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thickened skin, Skin rash |
ORPHA:1658 |
Subcorneal Pustular Dermatosis |
|
Pruritus, Increased circulating antibody level, Erythema, Pustule |
ORPHA:48377 |
Menke-Hennekam Syndrome 1 |
|
Overfolded helix, Hearing impairment, Prominent inferior crus of antihelix, Absent earlobe, Low-s... |
OMIM:618332 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Alopecia of scalp, Premature graying of hair, Dry skin, Low posterior hairline, Abnormal hair qua... |
ORPHA:2617 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Ohdo Syndrome |
|
Stenosis of the external auditory canal, Microtia, Hearing impairment |
OMIM:249620 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Microtia |
ORPHA:1703 |
Angiostrongyliasis |
|
Increased circulating IgA level, Pruritus, Increased circulating IgG level, Increased circulating... |
ORPHA:74 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Angioedema, Pus... |
ORPHA:139402 |
Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Otitis media, Inflammator... |
ORPHA:229717 |
Coxoauricular Syndrome |
|
Atresia of the external auditory canal, Microtia, Hearing impairment |
ORPHA:1508 |
Short Stature-Obesity Syndrome |
|
Microtia |
OMIM:269870 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections |
OMIM:617744 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Follicular hyperkeratosis, Epidermal acanthosis, Angular cheilitis, Skin vesicle |
OMIM:613102 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis, Dry skin |
OMIM:104570 |
Mednik Syndrome |
|
Ichthyosis, Decreased circulating ceruloplasmin concentration, Hyperkeratosis |
ORPHA:171851 |
Rhizomelic Chondrodysplasia Punctata |
|
Dry skin, Sparse body hair, Alopecia, Ichthyosis |
ORPHA:177 |
Craniosynostosis, Herrmann-Opitz Type |
|
Webbed neck, Abnormal antihelix morphology, Microtia |
ORPHA:2145 |
Hemifacial Atrophy, Progressive |
|
Microtia |
OMIM:141300 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin |
OMIM:617364 |
Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Dry skin, Blepharitis |
OMIM:618535 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chronic otitis media, Hepat... |
ORPHA:47 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Skin ulcer, Acral ulceration |
ORPHA:139578 |
Proteus Syndrome |
|
Epidermal acanthosis, Hyperkeratosis |
OMIM:176920 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Seborrheic dermatitis, Erythema, Arthritis, Redundant skin, Palmoplantar h... |
OMIM:259100 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Epidermal hyperkeratosis, Brittle hair, Palmoplantar keratoderma, Alopecia, Sparse eyebrow, Palmo... |
OMIM:104100 |
Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Hyperkeratosis |
OMIM:618625 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Low-set ears, Abnormality of the pinna, Microtia |
OMIM:613603 |
Short Stature And Facioauriculothoracic Malformations |
|
Cupped ear, Overfolded helix, Low-set ears, Microtia |
OMIM:609654 |
Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
Noonan Syndrome 8 |
|
Eczema, Palmoplantar cutis laxa, Webbed neck, Polyhydramnios, Hyperkeratosis, Pleural effusion |
OMIM:615355 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema |
OMIM:613960 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin |
OMIM:614450 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia |
OMIM:300946 |
Immunodeficiency 17 |
|
Eczema, Recurrent otitis media |
OMIM:615607 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear |
ORPHA:314647 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Eczema, Ichthyosis |
ORPHA:3055 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circulating antibod... |
OMIM:300635 |
Zechi-Ceide Syndrome |
|
Conductive hearing impairment, Abnormal earlobe morphology, Stenosis of the external auditory can... |
ORPHA:217017 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Seborrheic dermatitis, Thickened skin, Acne, Hypoalbuminemia |
OMIM:614441 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... |
OMIM:308230 |
Aspergillosis |
|
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti... |
ORPHA:1163 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Pyoderma gangrenosum, Acne, Arthritis, Colitis |
OMIM:604416 |
Catifa Syndrome |
|
Microtia |
OMIM:618761 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Pruritus, Hepatitis, Erythema, Skin rash, Hyperkeratosis, Skin ulcer |
ORPHA:1334 |
Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Dystrophic toenail, Onycholysis, Nail dystrophy, Decreased number of sw... |
ORPHA:69087 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
Flynn-Aird Syndrome |
|
Progressive sensorineural hearing impairment, Hyperkeratosis |
OMIM:136300 |
Basan Syndrome |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:129200 |
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Scaling skin, Dry skin, Absent axillary... |
OMIM:618419 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
9P13 Microdeletion Syndrome |
|
Dry skin, Recurrent otitis media |
ORPHA:324313 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Microtia |
ORPHA:2213 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Atresia of the external auditory canal, Microtia |
OMIM:141400 |
Chromomycosis |
|
Hyperkeratotic papule, Predominantly lower limb lymphedema, Keratoconjunctivitis sicca, Pruritus,... |
ORPHA:182 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Eczema, Otitis media, Pneumonia |
OMIM:608971 |
20P12.3 Microdeletion Syndrome |
|
Thickened helices, Microtia |
ORPHA:261295 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Decreased circulating total IgM |
ORPHA:2643 |
Distal Monosomy 17Q |
|
Low-set, posteriorly rotated ears, Patent ductus arteriosus, Microtia |
ORPHA:1597 |
6Q16 Microdeletion Syndrome |
|
Low-set ears, Abnormal ear morphology, Microtia |
ORPHA:171829 |
Igg4-Related Submandibular Gland Disease |
|
Xerostomia, Increased circulating IgG4 level, Increased circulating IgG level, Facial edema, Comp... |
ORPHA:449432 |
Lipoid Proteinosis |
|
Acne, Thickened skin, Pustule, Hyperkeratosis |
ORPHA:530 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Increased circulating IgE level, Absent specific antibody respon... |
OMIM:102700 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... |
OMIM:240500 |
Porphyria Cutanea Tarda, Type I |
|
Eczema |
OMIM:176090 |
Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyelashes, Acantholysis, Nail dystrophy, Palmoplantar keratosis with erythema and scale, A... |
OMIM:607655 |
Leishmaniasis |
|
Rhinitis, Increased circulating antibody level, Pallor, Skin ulcer |
ORPHA:507 |
Laryngoonychocutaneous Syndrome |
|
Skin ulcer |
OMIM:245660 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin |
ORPHA:1035 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Alopec... |
OMIM:615577 |
Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Reduced natural killer cell activity, Decreased circulating IgG ... |
OMIM:619281 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... |
ORPHA:37042 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607594 |
Okur-Chung Neurodevelopmental Syndrome |
|
Highly arched eyebrow, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... |
OMIM:617062 |
Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Arthritis, Uveitis, Skin rash, Gen... |
ORPHA:92 |
Complex Regional Pain Syndrome |
|
Slow-growing nails, Abnormality of hair growth, Erythema, Edema of the upper limbs, Dry skin, Ped... |
ORPHA:83452 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Patent ductus arteriosus, Microtia |
ORPHA:2547 |
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands |
|
Dry skin, Palmoplantar hyperkeratosis |
OMIM:206600 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Increased circulating antibody level |
OMIM:615846 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Conductive hearing impairment, Microtia, Aplasia/Hypoplasia of the middle ear |
OMIM:251800 |
Familial Keratoacanthoma |
|
Skin ulcer, Hyperkeratosis |
ORPHA:493 |
Prolidase Deficiency |
|
Eczema, Petechiae, Increased circulating antibody level, Recurrent pneumonia, Crusting erythemato... |
OMIM:170100 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer, Keratitis |
OMIM:221810 |
Porphyria Cutanea Tarda |
|
Chronic hepatitis, Increased circulating ferritin concentration, Decreased hepcidin level, Recurr... |
ORPHA:101330 |
Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
Adiposis Dolorosa |
|
Dry skin, Recurrent skin infections, Arthritis |
ORPHA:36397 |
Xfe Progeroid Syndrome |
|
Dry skin |
OMIM:610965 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level |
ORPHA:100024 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Low-set ears, Microtia |
ORPHA:357175 |
Au-Kline Syndrome |
|
Microtia |
OMIM:616580 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:251190 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Microtia |
ORPHA:2994 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Neonatal death, Congenital nonbullous ichthyosiform erythroderma, Purpura, Ichthyosis,... |
OMIM:608013 |
Familial Melanoma |
|
Dry skin |
ORPHA:618 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Hirsutism, Nail dystrophy, Abnormal hair whorl, Dry skin, Low posterior hairline, Synophrys |
OMIM:300860 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Overfolded helix, Low-set ears, Hearing impairment, Microtia, Cupped ea... |
OMIM:618619 |
Simple Cryoglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Acral ulceration, Complement deficiency, Paraproteinemia... |
ORPHA:91139 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Eczema, Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased s... |
OMIM:600903 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Low-set ears, Posteriorly rotated ears, Microtia |
OMIM:618089 |
Schnitzler Syndrome |
|
Pruritus, Increased circulating IgM level, Skin rash |
ORPHA:37748 |
Chanarin-Dorfman Syndrome |
|
Sensorineural hearing impairment, Congenital nonbullous ichthyosiform erythroderma, Microtia |
OMIM:275630 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Low-set ears, Posteriorly rotated ears, Microtia |
OMIM:616734 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Eczema, Edema |
OMIM:177000 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Elevated circulating creatine kinase concentration, Follicular hyperkeratosis |
ORPHA:300179 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Edema |
OMIM:600351 |
Mental Retardation, Autosomal Recessive 35 |
|
Low-set ears, Microtia |
OMIM:615162 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Dry skin, Acanthosis nigricans |
OMIM:268020 |
Omenn Syndrome |
|
Hypoproteinemia, Thickened skin, Erythroderma, Pneumonia |
OMIM:603554 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG level, Decreased circul... |
ORPHA:331206 |
Trichothiodystrophy |
|
Tiger tail banding, Eczema, Alopecia of scalp, Dystrophic fingernails, Split nail, Ridged nail, A... |
|