| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
| Ulerythema Ophryogenesis |
|
Acne, Miscarriage, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C... |
ORPHA:3406 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Pruritus, Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis |
ORPHA:737 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
| Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
| Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome |
|
Palmoplantar keratoderma, Ichthyosis |
ORPHA:281201 |
| Palmoplantar Keratoderma, Punctate Type Ii |
|
Porokeratosis, Spinous keratoses of palms and soles |
OMIM:175860 |
| Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
| Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
| Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi... |
ORPHA:166113 |
| Huriez Syndrome |
|
Dry skin, Lack of skin elasticity, Sclerodactyly, Palmoplantar keratoderma |
ORPHA:384 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Dehydration, Erythroderma, Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:313 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ... |
OMIM:612281 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
| Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly |
OMIM:212360 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Honeycomb... |
ORPHA:79395 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis, Erythema |
ORPHA:83453 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle |
ORPHA:158681 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop... |
ORPHA:530838 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth... |
OMIM:607602 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Classic Mycosis Fungoides |
|
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin |
ORPHA:2584 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
| Bathing Suit Ichthyosis |
|
Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk... |
ORPHA:100976 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... |
OMIM:300918 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
| Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... |
ORPHA:281127 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Dry skin, Ichthyosis |
OMIM:146700 |
| Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... |
OMIM:619208 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin |
OMIM:146590 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1366 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... |
ORPHA:312 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
| Erythrokeratodermia Variabilis |
|
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin |
ORPHA:317 |
| Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:2271 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculi... |
OMIM:620321 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... |
ORPHA:87503 |
| Superficial Epidermolytic Ichthyosis |
|
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis |
ORPHA:455 |
| Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos... |
OMIM:603165 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Erythema, Follicular hyperkeratosis, Pruritus |
ORPHA:79100 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... |
ORPHA:90280 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
| Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
| Psoriasis 14, Pustular |
|
Pustule, Parakeratosis, Erythema, Psoriasiform dermatitis |
OMIM:614204 |
| Cutaneous Mastocytoma |
|
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Dyspnea, Angioedema, Erythema, Thi... |
ORPHA:79455 |
| Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Follicular hyperkeratosis |
ORPHA:69125 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform e... |
OMIM:614457 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
| Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Erythema, Dry skin, Ichthyosis |
ORPHA:816 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... |
OMIM:616295 |
| Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... |
ORPHA:90158 |
| Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Abnormal oral mu... |
ORPHA:79147 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus, Dry skin |
OMIM:617920 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Congenit... |
OMIM:256500 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Epidermal hyperkeratosis, Dermal transluc... |
OMIM:137940 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Pruritus, Ichthyosis, Orthokeratosis, Dry skin |
OMIM:607626 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79399 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin |
OMIM:308800 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis |
ORPHA:89838 |
| Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Dry skin, Palmoplantar keratoderma |
OMIM:224750 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
| Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Pruritus, Dry skin, Eczema, Palmoplantar keratoderma |
OMIM:618535 |
| Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Pruritus |
ORPHA:254478 |
| Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin |
ORPHA:263534 |
| Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
| Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Dry skin, Death in infancy, Ichthyosis |
ORPHA:1954 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
| Progressive Symmetric Erythrokeratodermia |
|
Erythema, Palmoplantar keratoderma |
ORPHA:316 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin |
OMIM:612379 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular in... |
ORPHA:2302 |
| Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin |
OMIM:609180 |
| Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis |
OMIM:607936 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Dehydration, Urticaria, Ichthyosis, ... |
ORPHA:634 |
| Antisynthetase Syndrome |
|
Recurrent respiratory infections, Skin rash, Telangiectasia of the skin, Edema, Pruritus, Xerosto... |
ORPHA:81 |
| Harlequin Ichthyosis |
|
Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma |
ORPHA:457 |
| Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous... |
OMIM:113800 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Abnormal elasticity of skin, Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Swollen lip, Facial edema,... |
ORPHA:100057 |
| Peeling Skin Syndrome 3 |
|
Pruritus, Erythema, White scaling skin |
OMIM:616265 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... |
ORPHA:2199 |
| Sézary Syndrome |
|
Edema, Pruritus, Palmoplantar keratoderma, Erythroderma, Dry skin |
ORPHA:3162 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
ORPHA:2200 |
| Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
| Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... |
ORPHA:79126 |
| Costello Syndrome |
|
Redundant skin, Polyhydramnios, Lack of skin elasticity, Hyperkeratosis, Acanthosis nigricans |
ORPHA:3071 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema, Palmoplantar keratoderma |
OMIM:617524 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Acantholysis, Pruritus, Pustule, Erythe... |
ORPHA:79481 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
| Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... |
ORPHA:182 |
| Sydenham Chorea |
|
Movement abnormality of the tongue, Erythema, Recurrent streptococcus pneumoniae infections |
ORPHA:306731 |
| Darier Disease |
|
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... |
ORPHA:218 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Thickened skin, Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1979 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Thickened skin, Abn... |
ORPHA:659 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Pili Torti-Onychodysplasia Syndrome |
|
Dry skin, Generalized keratosis follicularis, Eczema, Palmoplantar keratoderma |
ORPHA:2890 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
| Mastocytosis, Cutaneous |
|
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... |
OMIM:267450 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Redundant skin, Gingival hyperkeratosis, Hyperextensible skin, Blepharochalasis, Soft, doughy ski... |
OMIM:225410 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Inflammatory abnormality of the skin, Hyperkeratosis, Ichthyosis, Dry skin |
OMIM:610768 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,... |
OMIM:605676 |
| Cutaneous Small Vessel Vasculitis |
|
Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Urticaria, Abnormal oral cavity ... |
ORPHA:889 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
| Familial Cold Autoinflammatory Syndrome 3 |
|
Recurrent sinopulmonary infections, Allergic rhinitis, Pruritus, Angioedema, Erythema, Asthma, De... |
OMIM:614468 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Lichen Planopilaris |
|
Pruritus, Hyperkeratosis, Skin ulcer |
ORPHA:525 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Immunodeficiency 58 |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Psoriasiform lesion, All... |
OMIM:618131 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Skin ulcer, Dehydration |
ORPHA:33355 |
| Jessner Lymphocytic Infiltration Of The Skin |
|
Pruritus, Cutaneous photosensitivity, Erythema |
ORPHA:33314 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Skin rash, Eczema, Abnormality of th... |
ORPHA:2314 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Persistence of primary teeth, Erythema, Recurrent ... |
OMIM:147060 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
| Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... |
ORPHA:330058 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Skin rash, Abnormal dental enamel morphology, Pruritus, Erythem... |
ORPHA:1334 |
| Primary Erythromelalgia |
|
Pruritus, Recurrent respiratory infections, Erythema |
ORPHA:90026 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... |
OMIM:620014 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Skin vesicle, Cutaneous a... |
ORPHA:555905 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:615225 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
| Vibratory Urticaria |
|
Urticaria, Flushing, Facial erythema |
OMIM:125630 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema, Facial erythema |
OMIM:618307 |
| Leopard Syndrome 3 |
|
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis |
OMIM:613707 |
| Dermatofibrosarcoma Protuberans |
|
Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
| Diffuse Cutaneous Mastocytosis |
|
Pruritus, Thickened skin, Wheezing, Darier's sign, Urticaria, Dermatographic urticaria, Scaling s... |
ORPHA:79456 |
| Prolidase Deficiency |
|
Recurrent respiratory infections, Carious teeth, Pruritus, Erythema, Crusting erythematous dermat... |
ORPHA:742 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Cobblestone-... |
OMIM:602540 |
| Werner Syndrome |
|
Miscarriage, Prematurely aged appearance, Telangiectasia of the skin, Pulmonary artery stenosis, ... |
ORPHA:902 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Death in infancy, Erythema |
OMIM:219095 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn... |
ORPHA:454831 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Perioral erythema, Ichthyosis |
OMIM:248300 |
| Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
| Ichthyosis With Confetti |
|
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos... |
OMIM:609165 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
| Erythema Of Acral Regions |
|
Erythema, Abnormality of the dentition |
OMIM:227000 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Erythema |
ORPHA:222 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Erythema, Recurrent skin infections |
ORPHA:346 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
| Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis, Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Recurrent bronch... |
OMIM:616069 |
| Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
| Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
| Maculopapular Cutaneous Mastocytosis |
|
Pruritus, Dyspnea, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of ... |
ORPHA:79457 |
| Phenylketonuria |
|
Scleroderma, Dry skin, Eczema |
OMIM:261600 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Plantar hyperkeratosis |
OMIM:616487 |
| Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
| Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... |
ORPHA:90159 |
| Lupus Erythematosus Tumidus |
|
Cutaneous photosensitivity, Deep dermal perivascular inflammatory infiltrate, Scaling skin |
ORPHA:90283 |
| Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... |
ORPHA:280779 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Facial edema, Pruritus, Pustule, Eosi... |
ORPHA:293173 |
| Angioma Serpiginosum |
|
Erythema, Vascular skin abnormality |
ORPHA:95429 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Hyperextensible skin, Dermal translucency |
OMIM:619120 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythro... |
OMIM:242100 |
| Erythema Nodosum, Familial |
|
Erythema nodosum, Erythema |
OMIM:132990 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Thickened skin, D... |
ORPHA:495 |
| Dowling-Degos Disease |
|
Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa |
ORPHA:79145 |
| Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma |
OMIM:608649 |
| Polyarteritis Nodosa |
|
Cutis marmorata, Abnormal lung morphology, Erythema, Skin ulcer, Pleuritis |
ORPHA:767 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
| Macs Syndrome |
|
Irregular dentition, Palpebral edema, Redundant skin, Bronchiectasis, Gingival overgrowth, Cutis ... |
OMIM:613075 |
| Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Dry skin, Scaling skin |
OMIM:612952 |
| Orthostatic Hypotensive Disorder, Streeten Type |
|
Bruising susceptibility, Facial erythema |
OMIM:143850 |
| Stiff Skin Syndrome |
|
Thickened skin, Lack of skin elasticity |
ORPHA:2833 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Thin ski... |
ORPHA:158673 |
| Leri Pleonosteosis |
|
Thickened skin, Lack of skin elasticity |
ORPHA:2900 |
| Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Dowling-Degos Disease 4 |
|
Pruritus, Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Hi... |
OMIM:612940 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
| Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Erythema, Thin vermilion ... |
OMIM:610015 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
| Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurre... |
OMIM:604571 |
| Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, V... |
ORPHA:163525 |
| Darier-White Disease |
|
Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Polyhydramnios, Atelectasis, High palate, Neonatal death |
OMIM:300219 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Polyhydramnios, Submucous cleft hard palate, Lack of skin elasticity... |
ORPHA:2671 |
| Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
| Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Classic Phenylketonuria |
|
Eczema, Lack of skin elasticity |
ORPHA:79254 |
| Familial Cold Urticaria |
|
Pruritus, Urticaria, Erythema, Dehydration |
ORPHA:47045 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Hyperextensible skin, Dermal translucency |
OMIM:619115 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Nonimmune hydrops fetalis, Polyhydramni... |
OMIM:608013 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
| Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
| Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Ectodermal dysplasia, Fragile skin, Scaling skin, Palmoplantar hyperkeratosis |
OMIM:604536 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Dermal translucency |
ORPHA:529965 |
| Keratolytic Winter Erythema |
|
Erythema |
OMIM:148370 |
| Noonan Syndrome 8 |
|
Eczema, Polyhydramnios, Hyperkeratosis, Hyperextensible skin, Palmoplantar cutis laxa, Pleural ef... |
OMIM:615355 |
| Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Abnormal subcutaneous fat tissue distribution, Thin ve... |
ORPHA:487825 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Recurrent skin infections, Abnormality of the dentition,... |
ORPHA:158668 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Hyperkeratosis, Dry skin, Death in infancy |
OMIM:614576 |
| Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma |
OMIM:615022 |
| Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dehydration, Decreased circulating carnitine co... |
ORPHA:79159 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Soft, doughy skin, Hyperextensible skin, Oligohydramnios, Dermal translucency |
ORPHA:541423 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin |
ORPHA:542592 |
| Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:494 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma |
OMIM:613576 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth, Ortho... |
OMIM:308050 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
| Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema |
ORPHA:36237 |
| Dermoodontodysplasia |
|
Dry skin |
OMIM:125640 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hyperextensible skin, Follicular hyperkeratosis |
ORPHA:300179 |
| Recon Progeroid Syndrome |
|
Dental crowding, Progeroid facial appearance, Livedo reticularis, Cutaneous photosensitivity, Thi... |
OMIM:620370 |
| Pilarowski-Bjornsson Syndrome |
|
Dermal translucency |
OMIM:617682 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90157 |
| Lipoid Proteinosis |
|
Recurrent respiratory infections, Nasal polyposis, Acne, Abnormal oral mucosa morphology, Pustule... |
ORPHA:530 |
| Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Erythema, Abnormality of primary t... |
OMIM:257980 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Tented upper lip vermilion, Acrocyanosis |
ORPHA:896 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis |
OMIM:618625 |
| Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta... |
ORPHA:90156 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Pulm... |
OMIM:606367 |
| Keratosis Pilaris Atrophicans |
|
Erythema |
OMIM:604093 |
| Pseudoxanthoma Elasticum |
|
Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle... |
ORPHA:758 |
| Hypohidrotic Ectodermal Dysplasia |
|
Hyperkeratosis, Dry skin, Xerostomia, Eczema |
ORPHA:238468 |
| Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema |
|
Erythema migrans |
OMIM:609352 |
| Erythema Palmare Hereditarium |
|
Erythema |
OMIM:133000 |
| Benign Chronic Pemphigus |
|
Erythema |
OMIM:169600 |
| Annular Erythema |
|
Erythema |
OMIM:106500 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Dry skin, Scaling skin, Palmoplantar keratoderma |
OMIM:618373 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
| Dermatitis Herpetiformis |
|
Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle |
ORPHA:1656 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia of the skin, Dental crowding, Lack of skin elasticity, Narrow mouth |
OMIM:615381 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal lung morphology, Erythroderma, High palate, Scaling skin, Ichthyosis |
ORPHA:35173 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Intrauterine growth retardation, Dehydration |
OMIM:601410 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
| Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
| Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
| Peeling Skin Syndrome 1 |
|
Pruritus, Asthma, Scaling skin, Erythroderma |
OMIM:270300 |
| Autosomal Erythropoietic Protoporphyria |
|
Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity |
ORPHA:79278 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Urticaria, Everted lower lip vermilion, Abnormal dental morphology, Palmoplantar keratoderma |
ORPHA:2251 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ... |
OMIM:615508 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edema, Atelectasis, Re... |
OMIM:613177 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Dehydration |
OMIM:251850 |
| Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
| Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Eczema, Premature loss of primary teeth, Abnormality of the dentition... |
ORPHA:2907 |
| 8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Submucous cleft hard palate, Lack of skin elasticity, Abnormality of the dentition |
ORPHA:178303 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Hyperextensible skin, Recurrent sinusitis, Soft, doughy skin, Bruising susceptibility, Fragile sk... |
OMIM:130010 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Soft skin, Hyperextensible skin, Cutis laxa, Dermal translucency |
OMIM:615349 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Chronic mucocutaneous candidiasis... |
OMIM:618282 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Carious teeth, Recurrent pneumonia, Dehydration, Death in childhood, T... |
OMIM:214150 |
| Mycosis Fungoides |
|
Pruritus, Erythema, Eczema, Psoriasiform dermatitis |
OMIM:254400 |
| Mpdu1-Cdg |
|
Thin vermilion border, Eczema, Scaling skin, Ichthyosis |
ORPHA:79323 |
| Adult-Onset Still Disease |
|
Skin rash, Pruritus, Recurrent pharyngitis, Erythema, Joint swelling, Restrictive ventilatory def... |
ORPHA:829 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Enanthema, Dyspnea, Angioedema, Erythema, Pustule, Erythroderma, Pulmonary infiltrates... |
ORPHA:139402 |
| Tempi Syndrome |
|
Transudative pleural effusion, Facial erythema, Hypoxemia, Telangiectasia, Abnormality of the pul... |
ORPHA:284227 |
| Omenn Syndrome |
|
Edema, Pruritus, Thickened skin, Erythroderma, Dry skin |
ORPHA:39041 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Skin rash, Cutis marmorata, Pustule, Erythema, Tachypnea, Lived... |
OMIM:615934 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkerat... |
ORPHA:69087 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma,... |
OMIM:601675 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:130020 |
| Fountain Syndrome |
|
Cutis marmorata, Facial edema, Thick lower lip vermilion, Erythema, Gingival overgrowth, Wide mou... |
ORPHA:3219 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whe... |
OMIM:620233 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Acanthosis nigricans, Dry skin |
ORPHA:3085 |
| Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Pneumonia, Jaundice, Oral ulcer, P... |
ORPHA:39812 |
| Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Erythema, Eczema, Edema |
OMIM:177000 |
| Limited Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Skin ulcer, Pulmonary fibrosis, Pulmonary arterial hypertension, Muco... |
ORPHA:220402 |
| Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Intrauterine growth retardation, Thin vermilion border, Everted lower lip vermilion, Smooth philtrum |
ORPHA:73273 |
| Snakebite Envenomation |
|
Epistaxis, Edema, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Gingival blee... |
ORPHA:449285 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Excessive wrinkled skin, Cutis laxa, Dermal translucency |
OMIM:614438 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dehydration, Dystonia |
ORPHA:289504 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Eryth... |
ORPHA:420741 |
| Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
| Nicolaides-Baraitser Syndrome |
|
Eczema, High, narrow palate, Wide mouth, Excessive wrinkled skin, Thin vermilion border, Everted ... |
ORPHA:3051 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Pruritus, Thickened skin, Erythema, Thick lower lip vermil... |
ORPHA:2135 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Dry skin, Ichthyosis |
OMIM:616943 |
| Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae, Lymphedema |
OMIM:609242 |
| Man1B1-Cdg |
|
Thin upper lip vermilion, Cutis laxa, Thick vermilion border, Short philtrum, Eclabion, Smooth ph... |
ORPHA:397941 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Dermal translucency, Soft, doughy skin, Repeated pneumothoraces, Carious te... |
ORPHA:536467 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Rhizomelic Chondrodysplasia Punctata |
|
Dry skin, Ichthyosis |
ORPHA:177 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Redundant skin, Pneumothorax, Recurrent pneumonia, Lack of skin elasticity, Respiratory insuffici... |
ORPHA:90349 |
| Baralle-Macken Syndrome |
|
Acanthosis nigricans, Striae distensae |
OMIM:619255 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Skin rash, Recurrent skin infections, Bronchiectasis... |
ORPHA:33110 |
| Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin, Pulmonary hypoplasia |
OMIM:615721 |
| Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Striae distensae, Hyperextensible skin, Thin skin, Bruising susceptibility, Petechiae |
OMIM:225310 |
| Bullous Pemphigoid |
|
Urticaria, Erythema, Eczema, Psoriasiform dermatitis |
ORPHA:703 |
| 14Q11.2 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Deep philtrum, Everted lower lip vermilion, High palate, Narrow mouth, L... |
ORPHA:261120 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Complex Regional Pain Syndrome |
|
Edema of the upper limbs, Erythema, Dry skin, Pedal edema |
ORPHA:83452 |
| Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema |
OMIM:618116 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Follicular hyperkeratosis |
OMIM:613102 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Redundant neck skin, Nonimmune hydrops fetalis, Pulmonary arterial... |
OMIM:619003 |
| Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Generalized edema, Maculopapular exanthema, Skin rash, Crackles, Facial ede... |
ORPHA:319213 |
| Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion,... |
OMIM:616898 |
| Rheumatic Fever |
|
Sinusitis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Erythema, Respiratory in... |
ORPHA:3099 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Intrauterine growth retardation, Dehydration, Dysphagia |
OMIM:618958 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79279 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Cutis laxa |
OMIM:614100 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Prominent superficial blood vessels, Polyhydramnios, Epidermal hyperkeratosis, Submu... |
OMIM:275210 |
| Juvenile Dermatomyositis |
|
Palpebral edema, Skin rash, Telangiectasia of the skin, Pruritus, Dyspnea, Erythema, Skin ulcer, ... |
ORPHA:93672 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Skin rash, Pneumonia, Edema, Recurrent skin infections, Respirat... |
ORPHA:36234 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Atelis Syndrome 1 |
|
Dry skin, Eczema |
OMIM:620184 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Prematurely aged appearance, Progeroid facial appearance, Abnormality of the dentition, Lack of s... |
ORPHA:90153 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Recurrent sinopulmonary infections, Interstitial pneumonitis, Erythema |
OMIM:614878 |
| Cofs Syndrome |
|
Intrauterine growth retardation, Cutaneous photosensitivity, Everted lower lip vermilion, Death i... |
ORPHA:1466 |
| Central Diabetes Insipidus |
|
Hyponatremia, Polydipsia, Dehydration, Anorexia |
ORPHA:178029 |
| Dracunculiasis |
|
Pruritus, Recurrent cutaneous abscess formation, Skin rash, Skin ulcer |
ORPHA:231 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:602400 |
| Chand Syndrome |
|
Atelectasis, Bifid tongue, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morp... |
ORPHA:1401 |
| Fixed Drug Eruption |
|
Erythema, Crusting erythematous dermatitis, Oral ulcer, Stomatitis, Generalized abnormality of skin |
ORPHA:293812 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
| Ramon Syndrome |
|
Hyperkeratosis |
ORPHA:3019 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Chilblain Lupus 1 |
|
Chilblains, Skin ulcer |
OMIM:610448 |
| Cdkl5-Deficiency Disorder |
|
Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Abnormal respiratory system p... |
ORPHA:505652 |
| Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
| Rosaï-Dorfman Disease |
|
Erythema |
ORPHA:158014 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Dry skin |
OMIM:600906 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Plantar hyperkeratosis, Hyperkeratotic papule, Palmar hyperkeratosis |
ORPHA:79397 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
| Restrictive Dermopathy |
|
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Generalized hyperkeratosis, Dermal transl... |
ORPHA:1662 |
| Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility |
ORPHA:352723 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Redundant skin |
ORPHA:171719 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Dry skin |
OMIM:601701 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
| Juvenile Hyaline Fibromatosis |
|
Death in infancy, Gingival fibromatosis, Skin ulcer, Gingival overgrowth |
ORPHA:2028 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, High palate, Eczema... |
OMIM:259100 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Thickened skin, Skin ulcer, Thick vermilion border, Chylothorax, Scaling skin,... |
ORPHA:2526 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Hyperammonemia, Dehydration, Choreoathetosis, Dystonia |
ORPHA:79312 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion, Recurrent upper respiratory tract infections, Oral ulcer, Erythroderma, Recu... |
ORPHA:169154 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin |
OMIM:614450 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Facial erythema, Folliculitis, Palmoplantar keratoderma, Enamel hypoplasia |
OMIM:612843 |
| Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Intrauterine growth retardation, Dehydration |
ORPHA:99886 |
| Intellectual Developmental Disorder, X-Linked 19 |
|
Thick lower lip vermilion, Dental crowding, Everted lower lip vermilion |
OMIM:300844 |
| Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| Warty Dyskeratoma |
|
Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Dehydration, Increased ci... |
OMIM:610600 |
| Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Acanthosis nigricans, Dry skin |
OMIM:268020 |
| Cardiofaciocutaneous Syndrome |
|
Redundant skin, Lymphedema, Excessive wrinkled skin, Hyperkeratosis, Hyperextensible skin, Palmop... |
ORPHA:1340 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Everted upper lip vermilion, Conical tooth, Oligodontia, Thick vermilion border, Periorbital wrin... |
OMIM:224900 |
| Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Excessive wrinkled skin, Thi... |
ORPHA:2500 |
| Warburg-Cinotti Syndrome |
|
Dental crowding, Poor wound healing, Erythema, Pneumothorax, Gingival overgrowth, Joint swelling,... |
OMIM:618175 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Acantholysis |
OMIM:609638 |
| Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Striae distensae |
OMIM:618793 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Dry skin |
OMIM:129490 |
| Maxillonasal Dysplasia |
|
Open bite, Cleft palate, Tooth agenesis, Microdontia, Striae distensae |
ORPHA:1248 |
| Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Ascites, Hydrops fetalis, Skin ulcer |
ORPHA:834 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Recurrent pneumonia, Pyoderma gang... |
OMIM:616576 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Polyhydramnios, Edema, Hamartoma of tongue, Atelectasis, Respirato... |
OMIM:269860 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Recurrent respiratory infections, Conical tooth, Xerostomia, Ectodermal dysplasia, Rhinitis, Ever... |
OMIM:614941 |
| Mitral Valve Prolapse 1 |
|
High, narrow palate, High palate, Striae distensae |
OMIM:157700 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immotile cilia... |
OMIM:244400 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Dry skin |
OMIM:275100 |
| Autosomal Dominant Prognathism |
|
Open bite, Everted lower lip vermilion |
ORPHA:2964 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Death in infancy, Subungual hyperkeratosis, Perianal erythema, Eczema, R... |
OMIM:308205 |
| Pierpont Syndrome |
|
Smooth philtrum, Prominent median palatal raphe, Thin vermilion border, Widely spaced teeth, Ever... |
OMIM:602342 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Allergic rhinitis, Eczema, Asthma, Erythema, Bronchiectasis, Ch... |
OMIM:615816 |
| Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Edema, Periorbital edema, Pruritus,... |
ORPHA:221 |
| Atypical Werner Syndrome |
|
Prominent superficial veins, Prematurely aged appearance, Telangiectasia of the skin, Progeroid f... |
ORPHA:79474 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Skin ulcer, Thin skin, Subcutaneous hemorrhage, Purpura |
ORPHA:743 |
| Loeys-Dietz Syndrome 4 |
|
Broad uvula, High, narrow palate, Pneumothorax, Hyperextensible skin, High palate, Emphysema, Bru... |
OMIM:614816 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Persistence of primary teeth, Thick lower lip vermilion, Overjet, High palate, S... |
OMIM:618342 |
| De Barsy Syndrome |
|
Excessive wrinkled skin, Cutis laxa, Dermal translucency |
ORPHA:2962 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hyperammonemia, Dehydration |
ORPHA:28 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
| Prolidase Deficiency |
|
Petechiae, Eczema, Asthma, Recurrent pneumonia, Crusting erythematous dermatitis, Diffuse telangi... |
OMIM:170100 |
| Fibromuscular Dysplasia, Multifocal |
|
Soft skin, Hyperextensible skin, Soft, doughy skin, Striae distensae, Dermal translucency |
OMIM:619329 |
| Hatipoglu Immunodeficiency Syndrome |
|
Eczema, Thickened skin, Atopic dermatitis, Dry skin, Petechiae |
OMIM:620331 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Poor wound healing, Facial erythema, Thin skin, Ecchymosis, Bruising susceptibility, Stria... |
OMIM:219090 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Dry skin |
ORPHA:2617 |
| Dermoodontodysplasia |
|
Dry skin |
ORPHA:1660 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa |
OMIM:617337 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum |
ORPHA:2429 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Acanthosis nigricans, Dry skin |
OMIM:262190 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Oligodontia, Everted lower lip vermilion, Anodontia |
ORPHA:276630 |
| Xeroderma Pigmentosum Variant |
|
