| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:146750 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... |
OMIM:148730 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis |
OMIM:618531 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... |
ORPHA:64745 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
| Porokeratosis Of Mibelli |
|
Pruritus, Porokeratosis, Hyperkeratosis |
ORPHA:735 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| 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 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
| Acquired Ichthyosis |
|
Pruritus, Palmoplantar keratoderma, Erythema, Recurrent skin infections, Ichthyosis, Hyperkeratos... |
ORPHA:454 |
| 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 |
| Cole Disease |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615522 |
| Porokeratosis 7, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:614714 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... |
OMIM:601952 |
| Bazex Syndrome |
|
Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, S... |
ORPHA:166113 |
| White Sponge Nevus 2 |
|
Edema, Hyperparakeratosis |
OMIM:615785 |
| Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritu... |
ORPHA:498359 |
| Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Huriez Syndrome |
|
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly |
ORPHA:384 |
| Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Vohwinkel Syndrome, Variant Form |
|
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis |
OMIM:604117 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Psoriasis 2 |
|
Hyperkeratosis, Psoriasiform dermatitis, Scaling skin, Parakeratosis |
OMIM:602723 |
| Acrokeratosis Verruciformis |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101900 |
| Lamellar Ichthyosis |
|
Erythroderma, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Dry skin, Dehydration |
ORPHA:313 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Erythema migrans, Skin vesicle, Parakeratosis |
ORPHA:158681 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Erythroderma, Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Congenit... |
OMIM:612281 |
| Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Pruritus, Parakeratosis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis |
OMIM:212360 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Hypergranulosis, Congenital nonb... |
ORPHA:79395 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Erythema, Parakeratosis |
ORPHA:83453 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis |
OMIM:148500 |
| Porokeratosis 3, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175900 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin |
OMIM:617571 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis |
OMIM:173200 |
| Porokeratosis 1, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175800 |
| Classic Mycosis Fungoides |
|
Eczema, Pruritus, Edema, Erythema, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer |
ORPHA:2584 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Pruritus, Palmoplantar keratoderma, Erythema, Parakeratosis, Ichthyosis, Hyperkeratosis |
OMIM:615821 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Atopic dermatitis, Dry skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis... |
ORPHA:530838 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis |
ORPHA:79503 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Palmoplantar h... |
OMIM:300918 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Bathing Suit Ichthyosis |
|
Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic... |
ORPHA:100976 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Contact dermatitis, Acne, Follicular hyperkeratosis, Facial erythema, Dry ... |
ORPHA:3406 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Palmoplantar keratoderma, Erythema, Hyperkeratosis |
OMIM:617525 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:604777 |
| Acral Self-Healing Collodion Baby |
|
Erythema, Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Edema of the dorsum of... |
ORPHA:281127 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... |
ORPHA:284426 |
| Recessive X-Linked Ichthyosis |
|
Dry skin, Ichthyosis, Hyperkeratosis |
ORPHA:461 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
| Ichthyosis Vulgaris |
|
Dry skin, Eczematoid dermatitis, Ichthyosis |
OMIM:146700 |
| Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo... |
OMIM:619208 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1366 |
| Olmsted Syndrome 1 |
|
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis |
OMIM:614594 |
| Pachyonychia Congenita 4 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615728 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... |
ORPHA:312 |
| Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin |
ORPHA:464318 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Erythema, Skin rash, Hyperkeratosis, Dry skin |
ORPHA:317 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Pruritus, Recurrent skin infections, Ichthyosis, Facial erythema, Dry ... |
OMIM:603165 |
| Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:2271 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Pa... |
ORPHA:87503 |
| Cutaneous Mastocytoma |
|
Peau d'orange, Angioedema, Pruritus, Thickened skin, Erythema, Telangiectasia of the skin, Dermat... |
ORPHA:79455 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash... |
ORPHA:90280 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis, Pruritus |
ORPHA:505 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Generalized hyperkeratosis |
ORPHA:2269 |
| Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Edema, Palmoplantar keratoderma, Erythema, Ichthyosis |
ORPHA:455 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... |
OMIM:613736 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis, Erythema |
ORPHA:79100 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Erythema, Pustule, Parakeratosis |
OMIM:614204 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Dry skin, Orthokeratosis, Ichthyosis, Parakeratosis |
OMIM:607626 |
| Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Erythroderma, Scaling skin, Hyperkeratosis |
OMIM:609180 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis |
OMIM:618339 |
| Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
| Anonychia With Flexural Pigmentation |
|
Follicular hyperkeratosis, Hyperkeratosis |
ORPHA:69125 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin, Pruritus |
OMIM:617920 |
| Parana Hard Skin Syndrome |
|
Thickened skin, Hyperkeratosis |
ORPHA:2812 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer |
ORPHA:2337 |
| Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis |
|
Congenital bullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:607602 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Parakeratosis |
OMIM:242300 |
| Sjögren-Larsson Syndrome |
|
Dry skin, Erythema, Ichthyosis, Hyperkeratosis |
ORPHA:816 |
| Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus, Erythema, Reduced subcutaneous adipose tissue, Mo... |
ORPHA:90158 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopa... |
ORPHA:79147 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis |
OMIM:133200 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Netherton Syndrome |
|
Erythroderma, Angioedema, Hypernatremic dehydration, Parakeratosis, Congenital nonbullous ichthyo... |
OMIM:256500 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Erythema, Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform e... |
OMIM:613943 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Facial erythema, Dry skin |
OMIM:308800 |
| Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin |
OMIM:614457 |
| Immunodeficiency 55 |
|
Dry skin, Eczema, Recurrent skin infections, Ichthyosis |
OMIM:617827 |
| Ichthyosis With Confetti |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:609165 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:89838 |
| Antisynthetase Syndrome |
|
Respiratory insufficiency, Xerostomia, Pruritus, Edema, Pulmonary arterial hypertension, Telangie... |
ORPHA:81 |
| Lichen Planus Pemphigoides |
|
Pruritus, Skin vesicle, Hyperkeratosis |
ORPHA:254478 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratosis |
ORPHA:79399 |
| Asbestos Intoxication |
|
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... |
ORPHA:2302 |
| Hypotrichosis 6 |
|
Pruritus, Follicular hyperkeratosis, Erythema |
OMIM:607903 |
| Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
| Congenital Lethal Erythroderma |
|
Dry skin, Congenital exfoliative erythroderma, Death in infancy, Ichthyosis |
ORPHA:1954 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:618546 |
| Progressive Symmetric Erythrokeratodermia |
|
Palmoplantar keratoderma, Erythema |
ORPHA:316 |
| Familial Benign Chronic Pemphigus |
|
Erythema, Acantholysis, Skin vesicle, Hyperkeratosis |
ORPHA:2841 |
| Harlequin Ichthyosis |
|
Erythroderma, Ichthyosis, Hyperkeratosis, Dehydration, Congenital ichthyosiform erythroderma |
ORPHA:457 |
| Epidermolytic Hyperkeratosis |
|
Erythroderma, Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkera... |
OMIM:113800 |
| Netherton Syndrome |
|
Eczema, Acanthosis nigricans, Erythroderma, Urticaria, Congenital nonbullous ichthyosiform erythr... |
ORPHA:634 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Tongue edema, Pharyngeal edema, Angioedema, Swollen lip, Erythema, Facial edema, Upper airway obs... |
ORPHA:100057 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
| Peeling Skin Syndrome 4 |
|
Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin |
OMIM:607936 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke... |
ORPHA:2200 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis, Abnormal elasticity of skin |
ORPHA:486815 |
| Sézary Syndrome |
|
Erythroderma, Pruritus, Edema, Palmoplantar keratoderma, Dry skin |
ORPHA:3162 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Edema, Recurrent pneumonia, Recurrent bronchiolitis, Dehydration, Epidermal acanthosis |
OMIM:616069 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema, Hyperkeratosis |
OMIM:606545 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... |
ORPHA:2199 |
| Chromomycosis |
|
Hyperkeratotic papule, Lymphedema, Pruritus, Edema, Hyperparakeratosis, Hyperkeratosis, Predomina... |
ORPHA:182 |
| Costello Syndrome |
|
Acanthosis nigricans, Polyhydramnios, Lack of skin elasticity, Hyperkeratosis, Redundant skin |
ORPHA:3071 |
| Lymphatic Malformation 4 |
|
Lymphedema, Hyperkeratosis |
OMIM:615907 |
| Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Pustule, Pruritus, Erythema, Abnormal oral m... |
ORPHA:79481 |
| Acute Interstitial Pneumonia |
|
Crackles, Respiratory failure, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Interlobular... |
ORPHA:79126 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Thickened skin, Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1979 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Palmoplantar keratoderma, Erythema |
OMIM:617524 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Palmoplantar keratoderma, Erythema, Hypergranulosis, Congenital nonbullous ichthyosiform erythrod... |
OMIM:242100 |
| Mastocytosis, Cutaneous |
|
Urticaria, Edema, Erythema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Pili Torti-Onychodysplasia Syndrome |
|
Dry skin, Generalized keratosis follicularis, Eczema, Palmoplantar keratoderma |
ORPHA:2890 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Follicular hyperkeratosis, Palmoplantar keratoderma, Parakeratosis |
OMIM:615225 |
| Immunodeficiency 58 |
|
Eczema, Chronic bronchitis, Allergic rhinitis, Chronic pulmonary obstruction, Psoriasiform lesion... |
OMIM:618131 |
| Familial Cold Autoinflammatory Syndrome 3 |
|
Allergic rhinitis, Angioedema, Recurrent sinopulmonary infections, Pruritus, Erythema, Cold urtic... |
OMIM:614468 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Carious teeth, Hypodontia, Neoplasm of the lung, Thickened skin, Palmoplantar keratoderma, Erythe... |
ORPHA:659 |
| Sydenham Chorea |
|
Erythema, Movement abnormality of the tongue, Recurrent streptococcus pneumoniae infections |
ORPHA:306731 |
| Cutaneous Small Vessel Vasculitis |
|
Abnormal oral cavity morphology, Erythema, Urticaria, Cutis marmorata, Recurrent skin infections,... |
ORPHA:889 |
| Darier Disease |
|
Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Thickened skin, Acrokerat... |
ORPHA:218 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormal lip morphology, Cheilitis, Pruritus, Erythema, Abnormal dental enamel morphology, Cough,... |
ORPHA:1334 |
| Palmoplantar Keratoderma, Epidermolytic |
|
Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis, Localized epidermolyt... |
OMIM:144200 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
| Diffuse Cutaneous Mastocytosis |
|
Wheezing, Erythroderma, Peau d'orange, Pruritus, Thickened skin, Dermatographic urticaria, Genera... |
ORPHA:79456 |
| Irida Syndrome |
|
Pallor, Ichthyosis, Hyperkeratosis |
ORPHA:209981 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis, Scaling skin, Epidermal acanthosis |
OMIM:616295 |
| Peeling Skin Syndrome 1 |
|
Scaling skin, Pruritus, Erythema, Asthma |
OMIM:270300 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Ichthyosis, Hyperkeratosis |
OMIM:612379 |
| Jessner Lymphocytic Infiltration Of The Skin |
|
Pruritus, Erythema, Cutaneous photosensitivity |
ORPHA:33314 |
| Macs Syndrome |
|
Thick lower lip vermilion, Irregular dentition, High palate, Cutis laxa, Eclabion, Bronchiectasis... |
OMIM:613075 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Malar rash, Skin rash, Maculopapular exanthema, Hyperkeratosis |
ORPHA:398124 |
| Lichen Planopilaris |
|
Pruritus, Skin ulcer, Hyperkeratosis |
ORPHA:525 |
| Dermatofibrosarcoma Protuberans |
|
Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
| Maculopapular Cutaneous Mastocytosis |
|
Pruritus, Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Flu... |
ORPHA:79457 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, High palate, Recurrent sinopulmonary infections, Erythema, Chronic mucocut... |
OMIM:147060 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis |
OMIM:148600 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Atopic dermatitis, Crackles, Abnormal pulmonary thoracic imaging finding, Hy... |
ORPHA:2902 |
| Leopard Syndrome 3 |
|
Epidermal hyperkeratosis, Dry skin, Hyperkeratosis |
OMIM:613707 |
| Vibratory Urticaria |
|
Urticaria, Flushing, Facial erythema |
OMIM:125630 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Dry skin, Hyperkeratosis |
ORPHA:1028 |
| Oculotrichodysplasia |
|
Carious teeth, Widely spaced primary teeth, Dry skin, Microdontia of primary teeth, Scaling skin,... |
OMIM:257960 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Dehydration, Skin ulcer, Skin rash |
ORPHA:33355 |
| Meige Disease |
|
Lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacterial skin infections, Cobb... |
ORPHA:90186 |
| Iga Pemphigus |
|
Pustule, Acantholysis, Pruritus, Neutrophilic infiltration of the skin, Cutaneous abscess, Skin v... |
ORPHA:555905 |
| Primary Erythromelalgia |
|
Pruritus, Recurrent respiratory infections, Erythema |
ORPHA:90026 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Death in infancy, Early cutaneous photosensitivity, Erythema |
OMIM:219095 |
| Mal De Meleda |
|
Perioral erythema, Congenital symmetrical palmoplantar keratosis, Ichthyosis |
OMIM:248300 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Hypodontia, Abnormality of primary molar morphology, Gingival bleeding, Spontaneous neonatal pneu... |
OMIM:225410 |
| Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Dry skin, Edema, Eczema |
OMIM:612947 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Pruritus, Dry skin, Cutis laxa |
OMIM:105250 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue |
ORPHA:90160 |
| Erythema Of Acral Regions |
|
Abnormality of the dentition, Erythema |
OMIM:227000 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Edema, Respiratory distress, Pulmonary edema, Dyspnea, ... |
OMIM:267450 |
| Pityriasis Rubra Pilaris |
|
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... |
ORPHA:2897 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Cleft palate, Pruritus, Cough, Delayed eruption of teeth, Generalized abnormality of skin... |
ORPHA:2314 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Erythema, Pustule |
ORPHA:222 |
| Prolidase Deficiency |
|
Carious teeth, Cutaneous photosensitivity, Pruritus, Erythema, Palmoplantar keratoderma, Thin ski... |
ORPHA:742 |
| Quinquaud Folliculitis Decalvans |
|
Erythema, Pustule, Recurrent skin infections |
ORPHA:346 |
| Phenylketonuria |
|
Dry skin, Eczema, Scleroderma |
OMIM:261600 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Congenital ichthyosiform erythroderma |
OMIM:615024 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema, Stomatitis |
OMIM:618307 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue, Vasculitis i... |
ORPHA:90159 |
| Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
| Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
| Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
| Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Erythema, Stillbirth, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:308050 |
| Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... |
OMIM:615872 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Dermal translucency, Hyperextensible skin |
OMIM:619120 |
| Cutaneous Collagenous Vasculopathy |
|
Diffuse telangiectasia, Petechiae, Vascular skin abnormality, Pruritus, Erythema, Prominent super... |
ORPHA:280779 |
| Angioma Serpiginosum |
|
Erythema, Vascular skin abnormality |
ORPHA:95429 |
| Erythema Nodosum, Familial |
|
Erythema, Erythema nodosum |
OMIM:132990 |
| Rare Cutaneous Lupus Erythematosus |
|
Vascular skin abnormality, Facial edema, Maculopapular exanthema, Cheilitis, Discoid lupus rash, ... |
ORPHA:535 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Ectodermal dysplasia, Palmoplantar hyperkeratosis, Fragile skin |
OMIM:604536 |
| Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
High palate, Thickened skin, Angular cheilitis, Nonepidermolytic palmoplantar hyperkeratosis, Rec... |
ORPHA:495 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
| Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Chilblains, Scaling skin |
OMIM:612952 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar keratoderma, Erythroderma, Ichthyosis, Hyperkeratosis |
OMIM:602540 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... |
OMIM:148700 |
| Dowling-Degos Disease |
|
Hyperkeratotic papule, Pruritus, Acne inversa, Hyperkeratosis, Skin vesicle |
ORPHA:79145 |
| Ichthyosis Prematurity Syndrome |
|
Erythroderma, Pruritus, Polyhydramnios, Follicular hyperkeratosis, Generalized ichthyosis |
OMIM:608649 |
| Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lowe... |
OMIM:616726 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O... |
OMIM:615508 |
| Orthostatic Hypotensive Disorder, Streeten Type |
|
Bruising susceptibility, Facial erythema |
OMIM:143850 |
| Leri Pleonosteosis |
|
Thickened skin, Lack of skin elasticity |
ORPHA:2900 |
| Stiff Skin Syndrome |
|
Thickened skin, Lack of skin elasticity |
ORPHA:2833 |
| Pulmonary Blastoma |
|
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma |
ORPHA:64741 |
| Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
| Porokeratosis |
|
Pruritus, Hyperkeratosis |
ORPHA:79358 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
| Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Neonatal death, Erythema, Thin vermilion border, Apnea, Recurrent ... |
OMIM:610015 |
| Familial Keratoacanthoma |
|
Skin ulcer, Hyperkeratosis |
ORPHA:493 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia, Narrow mouth, Lack of skin elasticity, Dental crowding, Scleroderma |
OMIM:615381 |
| Polyarteritis Nodosa |
|
Pleuritis, Erythema, Cutis marmorata, Abnormal lung morphology, Skin ulcer |
ORPHA:767 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
| Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Epidermal hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Plantar hyperkeratosis |
OMIM:104100 |
| Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Telangiectasia, Cutaneous photosensitivity, Palmoplantar keratosis with erythema and scale, Eryth... |
ORPHA:158673 |
| Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Nonimmune hydrops fetalis, Intrauterine growth retardation, Ascites,... |
OMIM:608013 |
| Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage flu... |
OMIM:610978 |
| Neu-Laxova Syndrome |
|
Cleft palate, Intrauterine growth retardation, Abnormality of the philtrum, Bifid uvula, Polyhydr... |
ORPHA:2671 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Excessive wrinkled skin, Dermal translucency, Cutis laxa |
OMIM:614438 |
| Darier-White Disease |
|
Acrokeratosis, Subungual hyperkeratotic fragments, Pruritus, Acantholysis |
OMIM:124200 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis, Recurrent bronchitis |
OMIM:300455 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
| Werner Syndrome |
|
Neoplasm of the lung, Telangiectasia of the skin, Subcutaneous calcification, Prematurely aged ap... |
ORPHA:902 |
| Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
| Familial Cold Urticaria |
|
Pruritus, Urticaria, Erythema, Dehydration |
ORPHA:47045 |
| Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands |
|
Dry skin, Palmoplantar hyperkeratosis |
OMIM:206600 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
| Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Intrauterine growth retardation, Atelectasis, Transient pulmonary infiltrate... |
ORPHA:70588 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Dermal translucency, Hyperextensible skin |
OMIM:619115 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat... |
ORPHA:70587 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Oligohydramnios, Dermal translucency, Soft, doughy skin, Hyperextensible skin |
ORPHA:541423 |
| Classic Phenylketonuria |
|
Eczema, Lack of skin elasticity |
ORPHA:79254 |
| Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis |
OMIM:616029 |
| Keratolytic Winter Erythema |
|
Erythema, Pustule |
ORPHA:50943 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Dry skin, Death in infancy, Peau d'orange, Hyperkeratosis |
OMIM:614576 |
| Pierpont Syndrome |
|
Widely spaced teeth, Smooth philtrum, Long upper lip, Abnormal subcutaneous fat tissue distributi... |
ORPHA:487825 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Dermal translucency |
ORPHA:529965 |
| Keratolytic Winter Erythema |
|
Erythema |
OMIM:148370 |
| Noonan Syndrome 8 |
|
Eczema, Palmoplantar cutis laxa, Polyhydramnios, Hyperextensible skin, Hyperkeratosis, Pleural ef... |
OMIM:615355 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Chronic oral candidiasis, Pulmonary infiltrates, P... |
OMIM:606367 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Carious teeth, Cheilitis, Chapped lip, Pruritus, Palmoplantar keratoderma, Abnormality of dental ... |
ORPHA:158668 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis |
OMIM:615023 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Erythroderma, Follicular hyperkeratosis, Oligohydramnios, Scaling skin, Dry skin |
OMIM:308205 |
| Keratoderma Hereditarium Mutilans |
|
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:494 |
| Rowley-Rosenberg Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis, Reduced subcutaneous adipose t... |
OMIM:268500 |
| Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
| Bare Lymphocyte Syndrome, Type I |
|
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema, Nasal polyposi... |
OMIM:604571 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Ichthyosis |
OMIM:615022 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Telangiectasia of the skin, Fragile skin, Skin ulcer |
ORPHA:542592 |
| Odontoonychodermal Dysplasia |
|
Erythema, Hypergranulosis, Orthokeratosis, Dry skin, Plantar hyperkeratosis |
OMIM:257980 |
| Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
| Drug-Induced Localized Lipodystrophy |
|
Erythema, Reduced subcutaneous adipose tissue |
ORPHA:90157 |
| Acrokeratosis Verruciformis Of Hopf |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
| Dermoodontodysplasia |
|
Dry skin |
OMIM:125640 |
| Pemphigus Vulgaris |
|
Acantholysis, Recurrent cutaneous abscess formation |
ORPHA:704 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Dehydration, Elevated circulating acylcarnitine concentration |
ORPHA:79159 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
| Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Erythema, Reduced subcutan... |
ORPHA:90156 |
| Bullous Impetigo |
|
Erythema, Pustule, Recurrent bacterial skin infections |
ORPHA:36237 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis, Hyperextensible skin |
ORPHA:300179 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderma |
OMIM:613576 |
| Hypohidrotic Ectodermal Dysplasia |
|
Dry skin, Eczema, Xerostomia, Hyperkeratosis |
ORPHA:238468 |
| Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Erythema |
OMIM:194400 |
| Erythema Palmare Hereditarium |
|
Erythema |
OMIM:133000 |
| Benign Chronic Pemphigus |
|
Erythema |
OMIM:169600 |
| Annular Erythema |
|
Erythema |
OMIM:106500 |
| Autosomal Erythropoietic Protoporphyria |
|
Eczema, Cutaneous photosensitivity, Pruritus, Edema, Erythema |
ORPHA:79278 |
| Dermatitis Herpetiformis |
|
Eczema, Pruritus, Edema, Erythema, Urticaria, Skin vesicle |
ORPHA:1656 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis |
ORPHA:38 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Intrauterine growth retardation, Cutis laxa, Peripheral pulmonary artery stenosis, Respiratory in... |
ORPHA:90349 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
| Keratosis Pilaris Atrophicans |
|
Erythema |
OMIM:604093 |
| Pseudoxanthoma Elasticum |
|
High palate, Excessive wrinkled skin, Pruritus, Acne, Telangiectasia of the skin, Striae distensa... |
ORPHA:758 |
| Mednik Syndrome |
|
Ichthyosis, Hyperkeratosis |
ORPHA:171851 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Plantar hyperkeratosis |
OMIM:616487 |
| Milroy Disease |
|
Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Predominantly lower limb lymphedema |
ORPHA:79452 |
| Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... |
ORPHA:922 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hypodontia, High palate, Smooth philtrum, Short philtrum, Everted lower lip vermilion, Thick verm... |
OMIM:618342 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis |
OMIM:618625 |
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Erythema, Ichthyosis |
OMIM:609313 |
| Granulomatous Slack Skin |
|
Erythema, Cutis laxa, Redundant skin |
ORPHA:33111 |
| Mpdu1-Cdg |
|
Scaling skin, Eczema, Thin vermilion border, Ichthyosis |
ORPHA:79323 |
| Tempi Syndrome |
|
Hypoxemia, Telangiectasia, Ascites, Abnormality of the pulmonary vasculature, Facial erythema, Tr... |
ORPHA:284227 |
| Diarrhea 2, With Microvillus Atrophy |
|
Death in infancy, Dehydration |
OMIM:251850 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Dry skin, Acanthosis nigricans |
OMIM:618527 |
| Lipoid Proteinosis |
|
Thick lower lip vermilion, High palate, Pustule, Tongue nodules, Thickened skin, Microglossia, Ab... |
ORPHA:530 |
| Adult-Onset Still Disease |
|
Restrictive ventilatory defect, Pruritus, Pleuritis, Erythema, Skin rash, Recurrent pharyngitis, ... |
ORPHA:829 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Intrauterine growth retardation, Dehydration |
OMIM:601410 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
High palate, Erythroderma, Ichthyosis, Abnormal lung morphology, Scaling skin |
ORPHA:35173 |
| Popov-Chang syndrome |
|
Dry skin, Hyperkeratosis |
OMIM:618428 |
| Kanzaki Disease |
|
Dry skin, Lymphedema, Hyperkeratosis |
OMIM:609242 |
| Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Abnormality of dental morphology, Urticaria, Palmoplantar keratoderma, Everted lower lip vermilion |
ORPHA:2251 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Bronchiectasis, Pyoderma gangrenosum, Recurrent sinopulmonary infe... |
OMIM:616576 |
| Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Erythema, Pruritus |
OMIM:254400 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Erythroderma, Pustule, Interstitial pneumonitis, Angioedema, Erythema, Cough, Pulmonary infiltrat... |
ORPHA:139402 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Acne inversa, Hyperkeratosis |
OMIM:617337 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Subungual hyperkerat... |
ORPHA:69087 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Dehydration |
OMIM:143500 |
| 8Q22.1 Microdeletion Syndrome |
|
Abnormality of the dentition, Lack of skin elasticity, Submucous cleft hard palate, Long philtrum |
ORPHA:178303 |
| Dowling-Degos Disease 4 |
|
Hypergranulosis, Epidermal acanthosis |
OMIM:615696 |
| Fountain Syndrome |
|
Thick lower lip vermilion, Abnormal palate morphology, Wide mouth, Erythema, Gingival overgrowth,... |
ORPHA:3219 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Penetrating foot ulcers, Skin ulcer, Hyperkeratosis |
ORPHA:36386 |
| Kid Syndrome |
|
Neoplasm of the tongue, Psoriasiform dermatitis, Lip fissure, Folliculitis, Recurrent cutaneous a... |
ORPHA:477 |
| Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Gingival bleeding, Open bite, Xerostomia, Erythema, Telangiectasia of the skin, ... |
ORPHA:2907 |
| Snakebite Envenomation |
|
Ecchymosis, Gingival bleeding, Angioedema, Edema, Erythema, Respiratory paralysis, Epistaxis, Res... |
ORPHA:449285 |
| Protoporphyria, Erythropoietic, 1 |
|
Eczema, Pruritus, Edema, Erythema |
OMIM:177000 |
| Omenn Syndrome |
|
Erythroderma, Pruritus, Thickened skin, Edema, Dry skin |
ORPHA:39041 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Dry skin, Acanthosis nigricans |
ORPHA:3085 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Soft, doughy skin, Fragile skin, Hyperextensible skin, Soft skin, Recurrent sinusitis, Bruising s... |
OMIM:130010 |
| Riddle Syndrome |
|
Restrictive ventilatory defect, Telangiectasia, Pneumonia, Erythema, Chronic sinusitis, Conjuncti... |
ORPHA:420741 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Hyperextensible skin, Soft skin, Striae distensae |
OMIM:130020 |
| Trichothiodystrophy 1, Photosensitive |
|
Dry skin, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hyperkeratosis |
OMIM:601675 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Telangiectasia, Pustule, Tachypnea, Erythema, Malar rash, Cutis marmorata, Skin rash, Pulmonary f... |
OMIM:615934 |
| Rhizomelic Chondrodysplasia Punctata |
|
Dry skin, Ichthyosis |
ORPHA:177 |
| Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Pulmonary infiltrates, Maculopapular... |
ORPHA:39812 |
| Hennekam-Beemer Syndrome |
|
Thick lower lip vermilion, High palate, Respiratory insufficiency, Pneumonia, Pruritus, Thickened... |
ORPHA:2135 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, High palate, Bronchiectasis, Cough, Recurrent skin infections, Skin rash, Recurrent re... |
ORPHA:33110 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Exertional dyspnea, Atelectasis, Pulmonary fibrosis, Bronchiolitis |
ORPHA:254361 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Hyperkeratotic papule, Pruritus, Skin vesicle |
ORPHA:79410 |
| Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
| Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Thin vermilion border, Smooth philtrum, Intrauterine growth retardation, Everted lower lip vermilion |
ORPHA:73273 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia |
ORPHA:2016 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... |
ORPHA:79127 |
| Man1B1-Cdg |
|
Smooth philtrum, Eclabion, Cutis laxa, Short philtrum, Thick vermilion border, Thin upper lip ver... |
ORPHA:397941 |
| Xfe Progeroid Syndrome |
|
Dry skin, Ascites |
OMIM:610965 |
| Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Hypodontia, Smooth philtrum, Long philtrum, Thin vermilion border, Scaling skin, Dry skin |
OMIM:618419 |
| Rheumatic Fever |
|
Sinusitis, Respiratory insufficiency, Erythema, Epistaxis, Abnormal pleura morphology, Recurrent ... |
ORPHA:3099 |
| Bronchogenic Cyst |
|
Pneumonia, Bronchogenic cyst, Cough, Abnormal pleura morphology, Pulmonary cyst, Dyspnea, Abnorma... |
ORPHA:2357 |
| Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary fibrosis, Mucosal telangie... |
ORPHA:220402 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema |
OMIM:618116 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, Pneumonia, Recurrent bacterial skin infections, Asthma, Recurrent sinusitis, R... |
ORPHA:217390 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Erythema, Urticaria |
ORPHA:703 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Cutis laxa |
OMIM:614100 |
| Bacterial Toxic-Shock Syndrome |
|
Ecchymosis, Sinusitis, Pneumonia, Tachypnea, Edema, Respiratory distress, Respiratory tract infec... |
ORPHA:36234 |
| Fryns Macrocephaly |
|
Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Everted lower lip... |
OMIM:600302 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Dry skin, Ichthyosis |
OMIM:616943 |
| Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Long philtrum, Deep philtrum, Exaggerated cupid's bow, Narrow mouth, Everted lower l... |
ORPHA:261120 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Petechiae, Striae distensae, Thin skin, Hyperextensible skin, Bruising susceptibility |
OMIM:225310 |
| Baralle-Macken Syndrome |
|
Acanthosis nigricans, Striae distensae |
OMIM:619255 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Redundant skin |
ORPHA:171719 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Redundant neck skin, Neonatal respiratory distress, Nonimmune hydrops fetalis, Intrauterine growt... |
OMIM:619003 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Intrauterine growth retardation, Dehydration, Dysphagia |
OMIM:618958 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Juvenile Dermatomyositis |
|
Restrictive ventilatory defect, Cutaneous photosensitivity, Pruritus, Erythema, Telangiectasia of... |
ORPHA:93672 |
| Fibromatosis, Gingival, With Distinctive Facies |
|
Irregular dentition, High palate, Delayed eruption of permanent teeth, Everted lower lip vermilio... |
OMIM:228560 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema, Hyperkeratosis |
ORPHA:79279 |
| Complex Regional Pain Syndrome |
|
Dry skin, Edema of the upper limbs, Pedal edema, Erythema |
ORPHA:83452 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Follicular hyperkeratosis, Skin vesicle |
OMIM:613102 |
| Restrictive Dermopathy |
|
Epidermal hyperkeratosis, Polyhydramnios, Dermal translucency, Scaling skin, Generalized hyperker... |
ORPHA:1662 |
| Nicolaides-Baraitser Syndrome |
|
High, narrow palate, Eczema, Smooth philtrum, Wide mouth, Long philtrum, Excessive wrinkled skin,... |
ORPHA:3051 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Hypodontia, Abnormal number of teeth, Xerostomia, Rhinitis, Ectodermal dysplasia, Conical tooth, ... |
OMIM:614941 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Hal... |
ORPHA:60033 |
| Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Progeroid facial appearance, Prematurely aged appearance, Emphysema, Redundant skin |
OMIM:123700 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Dry skin, Hyperkeratosis |
OMIM:601701 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin |
OMIM:617364 |
| Ramon Syndrome |
|
Hyperkeratosis |
ORPHA:3019 |
| Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Bronchiectas... |
ORPHA:244 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Progeroid facial appearance, Thin skin, Prematurely aged appearance, Lack of skin el... |
ORPHA:90153 |
| Rosaï-Dorfman Disease |
|
Erythema |
ORPHA:158014 |
| Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... |
ORPHA:2025 |
| Dracunculiasis |
|
Pruritus, Skin ulcer, Skin rash, Recurrent cutaneous abscess formation |
ORPHA:231 |
| Cofs Syndrome |
|
Cutaneous photosensitivity, Death in infancy, Intrauterine growth retardation, Everted lower lip ... |
ORPHA:1466 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death, Intrauterine growth retardation, Redundant skin |
OMIM:301021 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, High palate, Neonatal death, Polyhydramnios, Respiratory distress, Atelectasis |
OMIM:300219 |
| Attenuated Chédiak-Higashi Syndrome |
|
Gingival bleeding, Epistaxis, Recurrent respiratory infections, Skin ulcer, Bruising susceptibility |
ORPHA:352723 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Erythema, Interstitial pneumonitis, Bronchiolitis |
OMIM:614878 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Carious teeth, Bruising susceptibility, High palate, Microdontia, Respiratory insufficiency, Long... |
ORPHA:536467 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin |
OMIM:614450 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Thin skin, Subcutaneous hemorrhage, Purpura, Pulmonary embolism, Skin ulcer |
ORPHA:743 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia, Redundant skin |
OMIM:615721 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Intrauterine growth retardation, Dehydration |
ORPHA:99886 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dehydration |
ORPHA:289504 |
| Fibromuscular Dysplasia, Multifocal |
|
Striae distensae, Dermal translucency, Soft, doughy skin, Hyperextensible skin, Soft skin |
OMIM:619329 |
| Juvenile Hyaline Fibromatosis |
|
Gingival fibromatosis, Death in infancy, Gingival overgrowth, Skin ulcer |
ORPHA:2028 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Folliculitis, Palmoplantar keratoderma, Enamel hypoplasia, Facial erythema |
OMIM:612843 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, High palate, Seborrheic dermatitis, Erythema, Redundant skin, Flushing, Pa... |
OMIM:259100 |
| Maxillonasal Dysplasia |
|
Cleft palate, Microdontia, Open bite, Striae distensae, Tooth agenesis |
ORPHA:1248 |
| Fixed Drug Eruption |
|
Stomatitis, Erythema, Generalized abnormality of skin, Oral ulcer, Crusting erythematous dermatitis |
ORPHA:293812 |
| Skin Fragility-Woolly Hair Syndrome |
|
Palmoplantar keratosis with erythema and scale, Acantholysis |
OMIM:607655 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Hyperparakeratosis |
ORPHA:276280 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79397 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... |
OMIM:610921 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Lymphedema, Long philtrum, Edema, Thickened skin, Erysipelas, Scaling skin, Thick vermilion borde... |
ORPHA:2526 |
| Dermatomyositis |
|
Respiratory insufficiency, Cutaneous photosensitivity, Lung adenocarcinoma, Pruritus, Edema, Eryt... |
ORPHA:221 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating corticosterone level, Increased circulating ren... |
OMIM:610600 |
| Intellectual Developmental Disorder, X-Linked 19 |
|
Thick lower lip vermilion, Dental crowding, Everted lower lip vermilion |
OMIM:300844 |
| Warty Dyskeratoma |
|
Epidermal thickening, Acrokeratosis, Acantholysis |
ORPHA:69745 |
| Warburg-Cinotti Syndrome |
|
High palate, Dental crowding, Pneumothorax, Erythema, Gingival overgrowth, Thin skin, Follicular ... |
OMIM:618175 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Dry skin, Acanthosis nigricans |
OMIM:268020 |
| Toxic Epidermal Necrolysis |
|
Acantholysis, Excessive salivation, Erythema, Cough, Respiratory distress, Abnormal pleura morpho... |
ORPHA:537 |
| Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Striae distensae |
OMIM:618793 |
| Laryngoonychocutaneous Syndrome |
|
Skin ulcer, Amelogenesis imperfecta |
OMIM:245660 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Psoriasiform lesion, Recurrent lower respiratory tract infections, Recurrent upper ... |
ORPHA:169154 |
| Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Skin rash, Recurrent respiratory inf... |
ORPHA:229717 |
| Oral Erosive Lichen |
|
Dry skin, Erythema, Cheilitis, Oral ulcer |
ORPHA:31142 |
| Acrogeria |
|
Excessive wrinkled skin, Telangiectasia of the skin, Thin skin, Prematurely aged appearance, Skin... |
ORPHA:2500 |
| Elastoderma |
|
Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas |
ORPHA:228240 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Dry skin |
OMIM:129490 |
| Cdkl5-Deficiency Disorder |
|
Deep philtrum, Abnormal respiratory system physiology, Everted lower lip vermilion, Thick vermili... |
ORPHA:505652 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... |
ORPHA:724 |
| Reynolds Syndrome |
|
Respiratory insufficiency, Ascites, Xerostomia, Pruritus, Telangiectasia of the skin, Sclerodacty... |
ORPHA:779 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia, Hypernatremic dehydration, Dehydration |
OMIM:143860 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Hypodontia, Everted upper lip vermilion, Microdontia, Periorbital wrinkles, Abnormality of dental... |
OMIM:224900 |
| Cardiofaciocutaneous Syndrome |
|
Excessive wrinkled skin, Palmoplantar keratoderma, Ichthyosis, Hyperextensible skin, Hyperkeratos... |
ORPHA:1340 |
| Pierpont Syndrome |
|
Widely spaced teeth, Smooth philtrum, Long upper lip, Thin vermilion border, Everted lower lip ve... |
OMIM:602342 |
| Autosomal Dominant Prognathism |
|
Everted lower lip vermilion, Open bite |
ORPHA:2964 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin |
ORPHA:1035 |
| De Barsy Syndrome |
|
Excessive wrinkled skin, Dermal translucency, Cutis laxa |
ORPHA:2962 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Psoriasiform dermatitis, Pustule, Chapped lip, Erythema, Generalized abnormality of skin, Recurre... |
ORPHA:294023 |
| Prolidase Deficiency |
|
Eczema, High palate, Diffuse telangiectasia, Petechiae, Crusting erythematous dermatitis, Recurre... |
OMIM:170100 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Acantholysis |
OMIM:609638 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Apnea, Facial erythema |
ORPHA:439218 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Dry skin, Acanthosis nigricans |
OMIM:262190 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:602400 |
| Dermoodontodysplasia |
|
Dry skin |
ORPHA:1660 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Dry skin |
ORPHA:2617 |
| Mitral Valve Prolapse 1 |
|
High, narrow palate, High palate, Striae distensae |
OMIM:157700 |
| Sunct Syndrome |
|
Rhinorrhea, Facial edema, Palpebral edema, Facial erythema, Flushing |
ORPHA:57145 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis |
ORPHA:281090 |
| Immunodeficiency 23 |
|
Eczema, High palate, Allergic rhinitis, Bronchiectasis, Erythema, Vasculitis in the skin, Chronic... |
OMIM:615816 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l... |
ORPHA:2228 |
| Xeroderma Pigmentosum Variant |
|
Dry skin |
ORPHA:90342 |
| Immunoglobulin A Vasculitis |
|
Pustule, Angioedema, Vascular skin abnormality, Edema, Erythema, Urticaria, Purpura, Skin rash, R... |
ORPHA:761 |
| Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Erythema |
ORPHA:79099 |
| Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
| Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Skin rash, Generalized hyperkerato... |
ORPHA:92 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pneumonia, Bronchiectasis, Psoriasiform lesion, Recurrent pneumonia, Asthma, Chronic lung disease... |
OMIM:614700 |
| Progeroid Syndrome, Petty Type |
|
Intrauterine growth retardation, Cutis laxa, Reduced subcutaneous adipose tissue, Redundant skin,... |
ORPHA:2963 |
| Loeys-Dietz Syndrome 4 |
|
High, narrow palate, High palate, Pneumothorax, Bifid uvula, Striae distensae, Broad uvula, Hyper... |
OMIM:614816 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
