| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... |
OMIM:613000 |
| Ulerythema Ophryogenesis |
|
Facial erythema, Hyperkeratotic papule, Miscarriage, Contact dermatitis, Follicular hyperkeratosi... |
ORPHA:3406 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
OMIM:148730 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:617574 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritis on hand, Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Pruritu... |
ORPHA:64745 |
| Porokeratosis Of Mibelli |
|
Porokeratosis, Pruritus, Hyperkeratosis |
ORPHA:735 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Scaling skin, Dry skin, Pruritus, Atopic dermatitis |
OMIM:618084 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Porokeratosis, Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis |
ORPHA:737 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Acquired Ichthyosis |
|
Ichthyosis, Pruritus, Hyperkeratosis, Erythema, Recurrent skin infections, Palmoplantar keratoder... |
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 |
| Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... |
OMIM:604117 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis, Pruritus |
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 |
|
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... |
OMIM:601952 |
| Bazex Syndrome |
|
Pruritus, Parakeratosis, Edema, Scaling skin, Hyperkeratosis, Acanthosis nigricans, Palmoplantar ... |
ORPHA:166113 |
| Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Orthokeratotic hyperkeratosis, Edema, Pa... |
ORPHA:498359 |
| White Sponge Nevus 2 |
|
Edema, Hyperparakeratosis |
OMIM:615785 |
| Huriez Syndrome |
|
Sclerodactyly, Palmoplantar keratoderma, Dry skin, Lack of skin elasticity |
ORPHA:384 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis |
OMIM:101900 |
| Infantile Digital Fibromatosis |
|
Parakeratosis, Hyperkeratosis |
ORPHA:199267 |
| 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 |
| Lamellar Ichthyosis |
|
Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Erythroderma, Dehydration, Pruritus, Dry skin |
ORPHA:313 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker... |
OMIM:612281 |
| Psoriasis 2 |
|
Parakeratosis, Scaling skin, Hyperkeratosis, Psoriasiform dermatitis |
OMIM:602723 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Scalin... |
OMIM:617571 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin |
OMIM:212360 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
| Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Pruritus, Erythema |
ORPHA:83453 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Generalized ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyper... |
ORPHA:79395 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... |
OMIM:615024 |
| Pityriasis Rubra Pilaris |
|
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis |
OMIM:173200 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Erythroderma, Wh... |
OMIM:604777 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Erythema migrans, Palmoplantar hyperkeratosis, Parakeratosis, Pruritus |
ORPHA:158681 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Diffu... |
ORPHA:530838 |
| Classic Mycosis Fungoides |
|
Pruritus, Skin rash, Skin ulcer, Eczema, Edema, Erythema, Hyperkeratosis, Dry skin |
ORPHA:2584 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ichthyosis, Pruritus, Parakeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma |
OMIM:615821 |
| Olmsted Syndrome, X-Linked |
|
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta... |
OMIM:300918 |
| Bathing Suit Ichthyosis |
|
Thickened skin, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform eryt... |
ORPHA:100976 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections |
ORPHA:79503 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Erythema, Congenital nonbullous ichthyosiform erythr... |
OMIM:617526 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis, Erythema |
OMIM:617525 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Psoriasiform lesion, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pust... |
ORPHA:284426 |
| Acral Self-Healing Collodion Baby |
|
Lack of skin elasticity, Edema of the dorsum of hands, Edema of the dorsum of feet, Palmoplantar ... |
ORPHA:281127 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:461 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Pruritus |
OMIM:131850 |
| Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Ichthyosis, Dry skin |
OMIM:146700 |
| Hypotrichosis Simplex Of The Scalp |
|
Pruritus, Parakeratosis, Scaling skin, Hyperkeratosis, Atopic dermatitis |
ORPHA:90368 |
| Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Perioral hyperkeratosis, Pa... |
OMIM:619208 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Scaling skin, Palmoplantar keratoderma, Hyperkeratotic papule, Fragile skin |
OMIM:146590 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Lack of skin elasticity, Palmoplantar keratoderma |
ORPHA:1366 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Congenital bullous ichthyosiform erythroderma, Skin ulcer, Hyperkeratosis, Erythroder... |
ORPHA:312 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis, Dry skin |
OMIM:617066 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Parake... |
OMIM:242300 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Parakeratosis, Hyperkeratosis |
OMIM:618339 |
| Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin |
ORPHA:464318 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ichthyosis, Parakeratosis, Xerostomia, Acanthosis nigricans, Hyperkeratosis, Dry skin |
OMIM:618527 |
| Erythrokeratodermia Variabilis |
|
Skin rash, Erythema, Hyperkeratosis, Patchy palmoplantar hyperkeratosis, Dry skin |
ORPHA:317 |
| Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Ichthyosis, Dry skin |
ORPHA:2271 |
| Olmsted Syndrome 1 |
|
Pruritus, Orthokeratosis, Parakeratosis, Hyperparakeratosis, Subungual hyperkeratosis, Palmoplant... |
OMIM:614594 |
| Mal De Meleda |
|
Ichthyosis, Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, S... |
ORPHA:87503 |
| Dermatitis, Atopic |
|
Facial erythema, Ichthyosis, Eczema, Pallor, Dry skin, Recurrent skin infections, Pruritus, Atopi... |
OMIM:603165 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer |
ORPHA:409 |
| Superficial Epidermolytic Ichthyosis |
|
Ichthyosis, Edema, Erythema, Acantholysis, Palmoplantar keratoderma |
ORPHA:455 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
| Chilblain Lupus |
|
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash... |
ORPHA:90280 |
| Atrophoderma Vermiculata |
|
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis, Erythema |
ORPHA:79100 |
| Peeling Skin Syndrome 5 |
|
Scaling skin, Hyperkeratosis |
OMIM:617115 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll... |
OMIM:613736 |
| Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Cutis laxa, Crusting erythematous dermatitis |
ORPHA:79148 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus, Dry skin |
OMIM:617920 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Palmoplantar hyperkeratosis, Erythema |
OMIM:607602 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Pustule, Psoriasiform dermatitis, Erythema |
OMIM:614204 |
| Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Angioedema, Darier's sign, Peau d'orange, Thickened s... |
ORPHA:79455 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Scaling skin, Erythema, Hyperkerato... |
OMIM:614457 |
| Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Follicular hyperkeratosis |
ORPHA:69125 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Pruritus, Skin ulcer, Erythema |
ORPHA:2337 |
| Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Ichthyosis, Dry skin, Erythema |
ORPHA:816 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Hypergranulosis |
ORPHA:79151 |
| Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin, Sclerode... |
ORPHA:90158 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythemat... |
ORPHA:79147 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma, Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Pruritus, Scaling skin, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Folli... |
OMIM:616295 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Eryth... |
OMIM:256500 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Lymphedema, Nonimmune hydrops fetalis, Epidermal hyperkeratosis, Palpebral e... |
OMIM:137940 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin |
OMIM:308800 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Ichthyosis, Orthokeratosis, Parakeratosis, Pruritus, Dry skin |
OMIM:607626 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hyperkeratosis, Pruritus, Palmoplantar hyperkeratosis |
ORPHA:89838 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hyperkeratosis, Palmar hyperkeratosis, Pruritus, Plantar hyperkeratosis |
ORPHA:79399 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Palmoplantar keratoderma, Dry skin, Pruritus, Eczema |
OMIM:618535 |
| Hypotrichosis 6 |
|
Pruritus, Follicular hyperkeratosis, Erythema |
OMIM:607903 |
| Acral Peeling Skin Syndrome |
|
Ichthyosis, Eczema, Scaling skin, Excessive wrinkling of palmar skin, Erythema |
ORPHA:263534 |
| Lichen Planus Pemphigoides |
|
Hyperkeratosis, Pruritus, Skin vesicle |
ORPHA:254478 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Ichthyosis, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:618546 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Ichthyosis, Orthokeratosis, Erythema, Hyperkeratosis, Hypergranulosis |
OMIM:613943 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized ichthyosis, Cutis laxa, Eclabion, Scaling skin, Generalized hyperkeratosis, Epidermal... |
ORPHA:2269 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Hyperkeratosis, Skin vesicle, Erythema |
ORPHA:2841 |
| Congenital Lethal Erythroderma |
|
Ichthyosis, Dry skin, Congenital exfoliative erythroderma, Death in infancy |
ORPHA:1954 |
| Progressive Symmetric Erythrokeratodermia |
|
Palmoplantar keratoderma, Erythema |
ORPHA:316 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Ichthyosis, Cutis laxa, Eczema, Hyperkeratosis, Dry skin |
OMIM:612379 |
| Asbestos Intoxication |
|
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Diffuse reticular ... |
ORPHA:2302 |
| Netherton Syndrome |
|
Ichthyosis, Asthma, Skin rash, Eczema, Emphysema, Acanthosis nigricans, Congenital nonbullous ich... |
ORPHA:634 |
| Antisynthetase Syndrome |
|
Lack of skin elasticity, Respiratory insufficiency, Abnormal pulmonary interstitial morphology, P... |
ORPHA:81 |
| Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Scaling skin, Erythroderma, Hyperkeratosis, Dry skin |
OMIM:609180 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Pruritus, Respiratory distress, Swollen lip, Upper airway obstruction, Palpebral edema, Erythema,... |
ORPHA:100057 |
| Harlequin Ichthyosis |
|
Ichthyosis, Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma |
ORPHA:457 |
| Epidermolytic Hyperkeratosis |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Erythro... |
OMIM:113800 |
| Peeling Skin Syndrome 4 |
|
Ichthyosis, Orthokeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:607936 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Abnormal elasticity of skin, Follicular hyperkeratosis, Dry skin |
ORPHA:486815 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperke... |
ORPHA:2200 |
| Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
| Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
| Epidermolytic Palmoplantar Keratoderma |
|
Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palma... |
ORPHA:2199 |
| Sézary Syndrome |
|
Pruritus, Edema, Erythroderma, Palmoplantar keratoderma, Dry skin |
ORPHA:3162 |
| Costello Syndrome |
|
Lack of skin elasticity, Polyhydramnios, Redundant skin, Acanthosis nigricans, Hyperkeratosis |
ORPHA:3071 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Bronchiectasis, Pericardial effusion, Pleural effusion, Crackles, Peripheral edema, Dec... |
ORPHA:79126 |
| Pemphigus Foliaceus |
|
Skin vesicle, Oral ulcer, Pruritus, Crusting erythematous dermatitis, Scaling skin, Pustule, Abno... |
ORPHA:79481 |
| Chromomycosis |
|
Hyperkeratotic papule, Pruritus, Lymphedema, Predominantly lower limb lymphedema, Edema, Hyperpar... |
ORPHA:182 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Thickened skin, Abnormality of the tongue, Hypodontia, Skin ulcer, Abnormal oral mucosa morpholog... |
ORPHA:659 |
| Lymphatic Malformation 4 |
|
Pedal edema, Hyperkeratosis, Lymphedema |
OMIM:615907 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Palmoplantar keratoderma, Erythema |
OMIM:617524 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Lack of skin elasticity, Palmoplantar keratoderma, Thickened skin |
ORPHA:1979 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Dry skin, Generalized keratosis follicularis, Eczema |
ORPHA:2890 |
| Sydenham Chorea |
|
Movement abnormality of the tongue, Recurrent streptococcus pneumoniae infections, Erythema |
ORPHA:306731 |
| Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Edema, Erythema, Urticaria |
OMIM:154800 |
| Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
| Bronchopulmonary Dysplasia |
|
Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ... |
ORPHA:70589 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Blepharochalasis, Hyperextensible skin, Gingival hyperkeratosis, Dermal translucency, Redundant s... |
OMIM:225410 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Ichthyosis, Inflammatory abnormality of the skin, Death in infancy, Hyperkeratosis, Dry skin |
OMIM:610768 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... |
OMIM:267450 |
| Cutaneous Small Vessel Vasculitis |
|
Abnormal oral cavity morphology, Skin rash, Purpura, Cutis marmorata, Erythema, Recurrent skin in... |
ORPHA:889 |
| Palmoplantar Keratoderma, Epidermolytic |
|
Palmar hyperkeratosis, Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Localized epidermolyt... |
OMIM:144200 |
| Immunodeficiency 58 |
|
Cold urticaria, Cutaneous photosensitivity, Recurrent aphthous stomatitis, Chronic bronchitis, Ic... |
OMIM:618131 |
| Irida Syndrome |
|
Hyperkeratosis, Ichthyosis, Pallor |
ORPHA:209981 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
| Darier Disease |
|
Skin vesicle, Thickened skin, Pruritus, Acrokeratosis, Palmoplantar keratoderma, Subungual hyperk... |
ORPHA:218 |
| Familial Cold Autoinflammatory Syndrome 3 |
|
Pruritus, Dermatographic urticaria, Allergic rhinitis, Asthma, Recurrent sinopulmonary infections... |
OMIM:614468 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Gingivitis, Skin vesicle, Delayed eruption of teeth, Skin rash, Skin ulcer, Eczema, Cough, Cleft ... |
ORPHA:2314 |
| Lichen Planopilaris |
|
Hyperkeratosis, Skin ulcer, Pruritus |
ORPHA:525 |
| Jessner Lymphocytic Infiltration Of The Skin |
|
Cutaneous photosensitivity, Pruritus, Erythema |
ORPHA:33314 |
| Reticular Dysgenesis |
|
Skin rash, Skin ulcer, Recurrent respiratory infections, Dehydration |
ORPHA:33355 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Skin rash, Cutaneous abscess, Recurrent sinopulmonary infections, Chronic mucocutane... |
OMIM:147060 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Asthma, Wheezing, Hypoxem... |
ORPHA:2902 |
| Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... |
OMIM:616726 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis |
OMIM:148600 |
| Primary Erythromelalgia |
|
Pruritus, Recurrent respiratory infections, Erythema |
ORPHA:90026 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:615225 |
| Neonatal Lupus Erythematosus |
|
Malar rash, Skin rash, Parakeratosis, Hyperkeratosis, Maculopapular exanthema |
ORPHA:398124 |
| Vibratory Urticaria |
|
Facial erythema, Urticaria, Flushing |
OMIM:125630 |
| Iga Pemphigus |
|
Skin vesicle, Neutrophilic infiltration of the skin, Cutaneous abscess, Pustule, Acantholysis, Pr... |
ORPHA:555905 |
| Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal lip morphology, Skin ulcer, Cough, Hyperkeratosis, Erythema, Pruritus, Recurr... |
ORPHA:1334 |
| Leopard Syndrome 3 |
|
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis |
OMIM:613707 |
| Dermatofibrosarcoma Protuberans |
|
Thickened skin, Skin ulcer, Erythema |
ORPHA:31112 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| Diffuse Cutaneous Mastocytosis |
|
Darier's sign, Thickened skin, Peau d'orange, Dermatographic urticaria, Flushing, Scaling skin, G... |
ORPHA:79456 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Bronchiectasis, Respiratory insufficiency due to defective cili... |
OMIM:615067 |
| Prolidase Deficiency |
|
Thin skin, Cutaneous photosensitivity, Crusting erythematous dermatitis, Skin ulcer, Palmoplantar... |
ORPHA:742 |
| Lymphatic Malformation 12 |
|
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Fetal ascites, Death in adolescence, Hyper... |
OMIM:620014 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema, Stomatitis, Emphysema |
OMIM:618307 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Erythema, Death in infancy |
OMIM:219095 |
| Ichthyosis With Confetti |
|
Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Scalin... |
OMIM:609165 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Ichthyosis, Perioral erythema |
OMIM:248300 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Ichthyosis, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderm... |
OMIM:602540 |
| Werner Syndrome |
|
Lack of skin elasticity, Premature graying of hair, Prematurely aged appearance, Skin ulcer, Subc... |
ORPHA:902 |
| Meige Disease |
|
Pedal edema, Recurrent bacterial skin infections, Recurrent skin infections, Lymphedema, Edema of... |
ORPHA:90186 |
| Erythema Of Acral Regions |
|
Erythema, Abnormality of the dentition |
OMIM:227000 |
| Skin Fragility-Woolly Hair Syndrome |
|
Acantholysis, Palmoplantar erythema, Palmoplantar scaling skin, Palmoplantar hyperkeratosis |
OMIM:607655 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplan... |
OMIM:606545 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
| Pityriasis Rubra Pilaris |
|
Thickened skin, Ichthyosis, Pruritus, Eczema, Pustule, Subungual hyperkeratosis, Erythroderma, Pa... |
ORPHA:2897 |
| Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality of the skin |
ORPHA:90160 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Erythema |
ORPHA:222 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Erythema, Recurrent skin infections |
ORPHA:346 |
| Maculopapular Cutaneous Mastocytosis |
|
Darier's sign, Dermatographic urticaria, Flushing, Dyspnea, Erythema, Pruritus, Generalized abnor... |
ORPHA:79457 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Epidermal acanthosis, Recurrent bronch... |
OMIM:616069 |
| Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Vasculitis in the skin, Erythema, Inflammatory abnormality o... |
ORPHA:90159 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Pruritus |
ORPHA:89843 |
| Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
| Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
| Phenylketonuria |
|
Scleroderma, Dry skin, Eczema |
OMIM:261600 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Plantar hyperkeratosis |
OMIM:616487 |
| Cole Disease |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, H... |
OMIM:615522 |
| Lupus Erythematosus Tumidus |
|
Scaling skin, Deep dermal perivascular inflammatory infiltrate, Cutaneous photosensitivity |
ORPHA:90283 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hyperkeratosis, H... |
OMIM:615023 |
| Angioma Serpiginosum |
|
Vascular skin abnormality, Erythema |
ORPHA:95429 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Hyperextensible skin, Dermal translucency |
OMIM:619120 |
| Polyarteritis Nodosa |
|
Pleuritis, Skin ulcer, Cutis marmorata, Erythema, Abnormal lung morphology |
ORPHA:767 |
| Erythema Nodosum, Familial |
|
Erythema, Erythema nodosum |
OMIM:132990 |
| Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Petechiae, Skin rash, Bruising susceptibility, Erythema, Vas... |
ORPHA:280779 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Congenital nonbullous ichthyosiform erythroderma, Everted lower lip vermilion, Hyperkeratosis, Er... |
OMIM:242100 |
| Rare Cutaneous Lupus Erythematosus |
|
Crusting erythematous dermatitis, Scaling skin, Superficial dermal perivascular inflammatory infi... |
ORPHA:535 |
| Macs Syndrome |
|
Irregular dentition, Hyperextensible skin, Ichthyosis, Recurrent aphthous stomatitis, Bronchiecta... |
OMIM:613075 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent skin infections, Orthokeratosis, Psoriasiform dermatitis, Erythroderma, Acantholysis, P... |
OMIM:615508 |
| Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Abnormal pulmonary thoracic ... |
ORPHA:70588 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Pruritus, Dry skin |
OMIM:105250 |
| Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Generalized ichthyosis, Erythroderma, Pruritus, Follicular hyperkeratosis |
OMIM:608649 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each ... |
OMIM:148700 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Facial erythema, Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Thic... |
ORPHA:495 |
| Aicardi-Goutieres Syndrome 5 |
|
Scaling skin, Chilblains, Dry skin |
OMIM:612952 |
| Orthostatic Hypotensive Disorder, Streeten Type |
|
Facial erythema, Bruising susceptibility |
OMIM:143850 |
| Stiff Skin Syndrome |
|
Lack of skin elasticity, Thickened skin |
ORPHA:2833 |
| Leri Pleonosteosis |
|
Lack of skin elasticity, Thickened skin |
ORPHA:2900 |
| Dowling-Degos Disease |
|
Skin vesicle, Hyperkeratotic papule, Pruritus, Acne inversa, Hyperkeratosis |
ORPHA:79145 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Thin skin, Cutaneous photosensitivity, Telangiectasia, Crusting erythematous dermatitis, Palmopla... |
ORPHA:158673 |
| Porokeratosis |
|
Hyperkeratosis, Pruritus |
ORPHA:79358 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... |
ORPHA:70587 |
| Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
| Dowling-Degos Disease 4 |
|
Pruritus, Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, R... |
ORPHA:60032 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Lack of skin elasticity, High palate, Long philtrum, Bruising susceptibility, Prominent superfici... |
OMIM:612940 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
| Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
| Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Apnea, Erythema, Neonatal respiratory distress, Thin vermilion ... |
OMIM:610015 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar keratoderma, Epidermal hyperkeratosis, Plantar hyperkeratosis, Palmoplantar erythema |
OMIM:104100 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
| Darier-White Disease |
|
Acantholysis, Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments |
OMIM:124200 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Parenchymal c... |
OMIM:610978 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Skin ulcer, Recurrent bronchitis, Nasal polyposis, Chronic sinusitis, Emphysema, ... |
OMIM:604571 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Polyhydramnios, High palate, Death in infancy, Respiratory distress, Neonatal death, Atelectasis |
OMIM:300219 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
| Neu-Laxova Syndrome |
|
Lack of skin elasticity, Polyhydramnios, Abnormality of the philtrum, Ichthyosis, Bifid uvula, Su... |
ORPHA:2671 |
| Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... |
ORPHA:922 |
| Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
| Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Ichthyosis, Everted upper lip vermilion, Petechiae, Purpura, Nonimmune hydrops fe... |
OMIM:608013 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Familial Cold Urticaria |
|
Pruritus, Urticaria, Erythema, Dehydration |
ORPHA:47045 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Hyperextensible skin, Dermal translucency |
OMIM:619115 |
| Classic Phenylketonuria |
|
Lack of skin elasticity, Eczema |
ORPHA:79254 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Chronic Hiccup |
|
Abnormal eating behavior, Dehydration |
ORPHA:396 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Abnormality of dental morphology, Scaling skin, Recurrent pneumonia, Palmoplantar keratoderma, Fr... |
ORPHA:158668 |
| Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Ectodermal dysplasia, Palmoplantar hyperkeratosis, Fragile skin |
OMIM:604536 |
| Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Peau d'orange, Dry skin, Death in infancy |
OMIM:614576 |
| Keratolytic Winter Erythema |
|
Erythema |
OMIM:148370 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Dermal translucency |
ORPHA:529965 |
| Noonan Syndrome 8 |
|
Polyhydramnios, Hyperextensible skin, Palmoplantar cutis laxa, Eczema, Pleural effusion, Hyperker... |
OMIM:615355 |
| Pierpont Syndrome |
|
Widely spaced teeth, Abnormal subcutaneous fat tissue distribution, Everted lower lip vermilion, ... |
ORPHA:487825 |
| Pemphigus Vulgaris |
|
Acantholysis, Recurrent cutaneous abscess formation |
ORPHA:704 |
| Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
| Pilarowski-Bjornsson Syndrome |
|
Dermal translucency |
OMIM:617682 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Ichthyosis, Hypergranulosis, Erythroderma |
OMIM:615022 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Skin ulcer, Fragile skin, Erythema, Telangiectasia of the skin |
ORPHA:542592 |
| Dermoodontodysplasia |
|
Dry skin |
OMIM:125640 |
| Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Elevated circulating acylcarnitine concentration, Dehydration |
ORPHA:79159 |
| Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis |
ORPHA:494 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:613576 |
| Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin, Lack of ... |
ORPHA:90156 |
| Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90157 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Soft, doughy skin, Hyperextensible skin, Dermal translucency, Oligohydramnios |
ORPHA:541423 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Orthokeratosis, Parakeratosis, Stillbirth, Erythema, Hyperkeratosis, Congenital ichthyosiform ery... |
OMIM:308050 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Pulmonary infiltrates, Chronic oral candidiasis, Eczema, Scaling skin, Erythroderma, Psoriasiform... |
OMIM:606367 |
| Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema |
ORPHA:36237 |
| Tracheobronchopathia Osteochondroplastica |
|
Bronchitis, Respiratory insufficiency, Recurrent respiratory infections, Productive cough, Exerti... |
ORPHA:3348 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis, Tented upper lip vermilion, Atelectasis |
ORPHA:896 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis |
ORPHA:38 |
| Odontoonychodermal Dysplasia |
|
Palmoplantar erythema, Hypergranulosis, Orthokeratosis, Hypodontia, Widely spaced primary teeth, ... |
OMIM:257980 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hyperextensible skin, Follicular hyperkeratosis |
ORPHA:300179 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Scaling skin, Palmoplantar keratoderma, Dry skin |
OMIM:618373 |
| Lipoid Proteinosis |
|
Thickened skin, High palate, Tongue nodules, Thick lower lip vermilion, Nasal polyposis, Pustule,... |
ORPHA:530 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| 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 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis |
OMIM:618625 |
| Pseudoxanthoma Elasticum |
|
Lack of skin elasticity, Striae distensae, Hyperextensible skin, High palate, Skin rash, Bruising... |
ORPHA:758 |
| Keratosis Pilaris Atrophicans |
|
Erythema |
OMIM:604093 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Lack of skin elasticity, Dental crowding, Narrow mouth, Telangiectasia of the skin |
OMIM:615381 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
High palate, Ichthyosis, Scaling skin, Abnormal lung morphology, Erythroderma |
ORPHA:35173 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Atelectasis |
ORPHA:254361 |
| Dermatitis Herpetiformis |
|
Skin vesicle, Eczema, Edema, Erythema, Pruritus, Urticaria |
ORPHA:1656 |
| Bronchogenic Cyst |
|
Abnormal pleura morphology, Abnormal pulmonary thoracic imaging finding, Pneumonia, Dyspnea, Coug... |
ORPHA:2357 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Intrauterine growth retardation, Dehydration |
OMIM:601410 |
| Milroy Disease |
|
Pedal edema, Lymphedema, Predominantly lower limb lymphedema, Erysipelas, Hyperkeratosis |
ORPHA:79452 |
| Peeling Skin Syndrome 1 |
|
Asthma, Scaling skin, Pruritus, Erythroderma |
OMIM:270300 |
| Autosomal Erythropoietic Protoporphyria |
|
Cutaneous photosensitivity, Eczema, Edema, Erythema, Pruritus |
ORPHA:79278 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Long philtrum, Cutis laxa, Death in infancy, Pulmonary hypoplasia, Emphysema, Redundant skin, Rec... |
OMIM:613177 |
| Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
| Kid Syndrome |
|
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Gingivitis, Angular c... |
ORPHA:477 |
| Hereditary Acrokeratotic Poikiloderma |
|
Thin skin, Gingivitis, Ichthyosis, Abnormal pigmentation of the oral mucosa, Premature loss of pr... |
ORPHA:2907 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Dehydration |
OMIM:251850 |
| Mpdu1-Cdg |
|
Scaling skin, Ichthyosis, Eczema, Thin vermilion border |
ORPHA:79323 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Everted lower lip vermilion, Palmoplantar keratoderma, Abnormality of dental morphology, Urticaria |
ORPHA:2251 |
| Adult-Onset Still Disease |
|
Pleuritis, Skin rash, Recurrent pharyngitis, Restrictive ventilatory defect, Joint swelling, Eryt... |
ORPHA:829 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Chronic oral candidiasis, Cutaneous abscess, Eczema, Chronic mucocutaneous candidiasis, Dry skin,... |
OMIM:618282 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Hyperextensible skin, Soft skin, Cutis laxa, Dermal translucency |
OMIM:615349 |
| Tempi Syndrome |
|
Facial erythema, Telangiectasia, Hypoxemia, Transudative pleural effusion, Ascites, Abnormality o... |
ORPHA:284227 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Skin ulcer, Penetrating foot ulcers |
ORPHA:36386 |
| Mycosis Fungoides |
|
Psoriasiform dermatitis, Pruritus, Eczema, Erythema |
OMIM:254400 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Long philtrum, Delayed eruption of teeth, Recurrent pneumonia, Dehydration, Carious teeth, Thin v... |
OMIM:214150 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Hyperextensible skin, Recurrent sinusitis, Bruising susceptibility, Fragile skin, Soft, doughy sk... |
OMIM:130010 |
| 8Q22.1 Microdeletion Syndrome |
|
Lack of skin elasticity, Submucous cleft hard palate, Long philtrum, Abnormality of the dentition |
ORPHA:178303 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Subungual hyperkerat... |
ORPHA:69087 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Malar rash, Telangiectasia, Skin rash, Cutis marmorata, Livedo reticularis, Pustule, Pustular ras... |
OMIM:615934 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Dry skin, Acanthosis nigricans |
ORPHA:3085 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pulmonary infiltrates, Interstitial pneumonitis, Skin rash, Pustule, Dyspnea, Cough, Erythema, Er... |
ORPHA:139402 |
| Omenn Syndrome |
|
Thickened skin, Edema, Erythroderma, Pruritus, Dry skin |
ORPHA:39041 |
| Fountain Syndrome |
|
Hyperextensible skin, Wide mouth, Thick lower lip vermilion, Cutis marmorata, Everted lower lip v... |
ORPHA:3219 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Striae distensae, Hyperextensible skin |
OMIM:130020 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hyperkeratosis,... |
OMIM:601675 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Graft Versus Host Disease |
|
Pulmonary infiltrates, Oral ulcer, Inflammatory abnormality of the skin, Jaundice, Stomatitis, Sc... |
ORPHA:39812 |
| Protoporphyria, Erythropoietic, 1 |
|
Edema, Pruritus, Eczema, Erythema |
OMIM:177000 |
| Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Mucosal telangiectasiae, Skin ulcer, Telangiectasia of the skin,... |
ORPHA:220402 |
| Riddle Syndrome |
|
Bronchitis, Abnormal pulmonary interstitial morphology, Telangiectasia, Recurrent sinusitis, Chro... |
ORPHA:420741 |
| Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Everted lower lip vermilion, Thin vermilion border, Intrauterine growth retardation, Smooth philtrum |
ORPHA:73273 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth |
ORPHA:2016 |
| Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Ichthyosis, Dry skin |
OMIM:616943 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Dermal translucency, Cutis laxa, Excessive wrinkled skin |
OMIM:614438 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Lack of skin elasticity, Respiratory insufficiency, Pneumothorax, Cutis laxa, Emphysema, Redundan... |
ORPHA:90349 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dystonia, Dicarboxylic acidemia, Methylmalonic acidemia, Dehydration |
ORPHA:289504 |
| Snakebite Envenomation |
|
Respiratory paralysis, Ecchymosis, Epistaxis, Edema, Gingival bleeding, Erythema, Respiratory fai... |
ORPHA:449285 |
| Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae, Lymphedema |
OMIM:609242 |
| Man1B1-Cdg |
|
Cutis laxa, Eclabion, Short philtrum, Thin upper lip vermilion, Smooth philtrum, Thick vermilion ... |
ORPHA:397941 |
| Rhizomelic Chondrodysplasia Punctata |
|
Ichthyosis, Dry skin |
ORPHA:177 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Asthma, Skin ulcer, Recurr... |
ORPHA:217390 |
| Hennekam-Beemer Syndrome |
|
Respiratory insufficiency, Skin vesicle, Thickened skin, High palate, Thick lower lip vermilion, ... |
ORPHA:2135 |
| Nicolaides-Baraitser Syndrome |
|
Long philtrum, Wide mouth, Eczema, Everted lower lip vermilion, Smooth philtrum, Thin vermilion b... |
ORPHA:3051 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Thin skin, Dentinogenesis imperfecta, Hyperextensible skin, High palat... |
ORPHA:536467 |
| Autosomal Agammaglobulinemia |
|
High palate, Bronchiectasis, Skin rash, Sinusitis, Cough, Dehydration, Recurrent skin infections,... |
ORPHA:33110 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Erythema, Urticaria |
ORPHA:703 |
| Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin, Pulmonary hypoplasia |
OMIM:615721 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Long philtrum, Deep philtrum, Everted lower lip vermilion, Narrow mouth, Exaggerated... |
ORPHA:261120 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Palmoplantar keratoderma, Hyperkeratotic papule, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema |
OMIM:618116 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Rheumatic Fever |
|
Respiratory insufficiency, Abnormal pleura morphology, Recurrent pharyngitis, Pallor, Epistaxis, ... |
ORPHA:3099 |
| Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Thin skin, Striae distensae, Hyperextensible skin, Petechiae, Bruising susceptibility |
OMIM:225310 |
| Lujo Hemorrhagic Fever |
|
Cerebral edema, Rhinitis, Skin rash, Facial edema, Purpura, Respiratory distress, Ecchymosis, Cra... |
ORPHA:319213 |
| Baralle-Macken Syndrome |
|
Striae distensae, Acanthosis nigricans |
OMIM:619255 |
| Chromosome 15Q14 Deletion Syndrome |
|
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Recurrent vir... |
OMIM:616898 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Pulmonary hypoplasia, Redundant neck ... |
OMIM:619003 |
| Pemphigus Erythematosus |
|
Acantholysis, Malar rash |
ORPHA:79480 |
| Primary Ciliary Dyskinesia |
|
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... |
ORPHA:244 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Intrauterine growth retardation, Dehydration |
OMIM:618958 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory tract infection, Skin rash, Respiratory distress, Ecchymosis, Scaling skin, Edema, Si... |
ORPHA:36234 |
| Complex Regional Pain Syndrome |
|
Pedal edema, Edema of the upper limbs, Dry skin, Erythema |
ORPHA:83452 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79279 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa, Emphysema |
OMIM:614100 |
| Juvenile Dermatomyositis |
|
Cutaneous photosensitivity, Mucosal telangiectasiae, Skin rash, Telangiectasia of the skin, Skin ... |
ORPHA:93672 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Follicular hyperkeratosis |
OMIM:613102 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Lack of skin elasticity, Thin skin, High palate, Progeroid facial appearance, Prematurely aged ap... |
ORPHA:90153 |
| Restrictive Dermopathy 1 |
|
Polyhydramnios, Thin skin, Prominent superficial blood vessels, Natal tooth, Submucous cleft hard... |
OMIM:275210 |
| Chand Syndrome |
|
Bifid tongue, Commissural lip pit, Abnormal oral frenulum morphology, Agenesis of permanent teeth... |
ORPHA:1401 |
| Cofs Syndrome |
|
Everted lower lip vermilion, Cutaneous photosensitivity, Intrauterine growth retardation, Death i... |
ORPHA:1466 |
| Dracunculiasis |
|
Skin rash, Pruritus, Skin ulcer, Recurrent cutaneous abscess formation |
ORPHA:231 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ... |
ORPHA:2025 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Bronchiolitis, Recurrent sinopulmonary infections, Erythema |
OMIM:614878 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Hyperkeratosis, Pruritus, Congenital ichthyosiform erythroderma |
OMIM:602400 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
| Ramon Syndrome |
|
Hyperkeratosis |
ORPHA:3019 |
| Rosaï-Dorfman Disease |
|
Erythema |
ORPHA:158014 |
| Chilblain Lupus 1 |
|
Chilblains, Skin ulcer |
OMIM:610448 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Dry skin |
OMIM:600906 |
| Fixed Drug Eruption |
|
Oral ulcer, Crusting erythematous dermatitis, Stomatitis, Erythema, Generalized abnormality of skin |
ORPHA:293812 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
| Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer, Bruising susceptibility, Epistaxis, Gingival bleeding, Recurrent respiratory infections |
ORPHA:352723 |
| Cutis Laxa-Marfanoid Syndrome |
|
Redundant skin, Emphysema |
ORPHA:171719 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Dry skin |
OMIM:601701 |
| Cdkl5-Deficiency Disorder |
|
Everted lower lip vermilion, Abnormal respiratory system physiology, Deep philtrum, Thick vermili... |
ORPHA:505652 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin |
OMIM:614450 |
| Juvenile Hyaline Fibromatosis |
|
Gingival fibromatosis, Skin ulcer, Gingival overgrowth, Death in infancy |
ORPHA:2028 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
High palate, Palmoplantar hyperkeratosis, Flushing, Redundant skin, Erythema, Eczematoid dermatit... |
OMIM:259100 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79397 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Thickened skin, Long philtrum, Lymphedema, Skin ulcer, Erysipelas, Pleural effusion, Scaling skin... |
ORPHA:2526 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Oral ulcer, Psoriasiform lesion, Recurrent upper respiratory tract infections, Erythroderma, Recu... |
ORPHA:169154 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Dry skin, Acanthosis nigricans |
OMIM:268020 |
| Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Intrauterine growth retardation, Dehydration |
ORPHA:99886 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Facial erythema, Enamel hypoplasia, Folliculitis, Carious teeth, Palmoplantar keratoderma |
OMIM:612843 |
| Cardiofaciocutaneous Syndrome |
|
Hyperextensible skin, Ichthyosis, Lymphedema, Redundant skin, Hyperkeratosis, Palmoplantar kerato... |
ORPHA:1340 |
| Restrictive Dermopathy |
|
Polyhydramnios, Dermal translucency, Epidermal hyperkeratosis, Scaling skin, Generalized hyperker... |
ORPHA:1662 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Increased circulating 18-hydroxycortisone level,... |
OMIM:610600 |
| Warburg-Cinotti Syndrome |
|
Thin skin, Pneumothorax, High palate, Gingival overgrowth, Joint swelling, Erythema, Dental crowd... |
OMIM:618175 |
| Acrogeria |
|
Thin skin, Skin ulcer, Telangiectasia of the skin, Prematurely aged appearance, Excessive wrinkle... |
ORPHA:2500 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Dry skin |
OMIM:129490 |
| Elastoderma |
|
Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas |
ORPHA:228240 |
| Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Skin rash, Skin ulcer, Recurrent cutaneous abscess formation, S... |
ORPHA:229717 |
| Intellectual Developmental Disorder, X-Linked 19 |
|
Thick lower lip vermilion, Everted lower lip vermilion, Dental crowding |
OMIM:300844 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Conical tooth, Everted upper lip vermilion, Microdontia, Hypodontia, Oligodontia, Anodontia, Ever... |
OMIM:224900 |
| Warty Dyskeratoma |
|
Acantholysis, Acrokeratosis, Epidermal thickening |
ORPHA:69745 |
| Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Striae distensae |
OMIM:618793 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Perianal erythema, Neonatal death, Ectodermal dysplasia, Hydromyelia, Death in infancy, Ichthyosi... |
OMIM:308205 |
| Ciliary Dyskinesia, Primary, 1 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Nasal polyposis, Chronic sinusitis, Chronic... |
OMIM:244400 |
| Free Sialic Acid Storage Disease |
|
Ascites, Skin ulcer, Recurrent respiratory infections, Hydrops fetalis |
ORPHA:834 |
| Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Polyhydramnios, Lobulated tongue, Natal tooth, Pulmonary hypoplasia, M... |
OMIM:269860 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Acantholysis, Neonatal death |
OMIM:609638 |
| Maxillonasal Dysplasia |
|
Striae distensae, Microdontia, Tooth agenesis, Cleft palate, Open bite |
ORPHA:1248 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Pyoderma gangrenosum, Bronchiectasis, Recurrent sinusitis, Recurrent sinopulmonary infections, Ch... |
OMIM:616576 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Hyperparakeratosis |
ORPHA:276280 |
| Mitral Valve Prolapse 1 |
|
Striae distensae, High palate, High, narrow palate |
OMIM:157700 |
| Oral Erosive Lichen |
|
Oral ulcer, Cheilitis, Dry skin, Erythema |
ORPHA:31142 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Conical tooth, Ectodermal dysplasia, Rhinitis, Hypodontia, Everted lower lip vermilion, Xerostomi... |
OMIM:614941 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Thin skin, Subcutaneous hemorrhage, Skin ulcer, Purpura |
ORPHA:743 |
| Autosomal Dominant Prognathism |
|
Everted lower lip vermilion, Open bite |
ORPHA:2964 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
High palate, Thick lower lip vermilion, Hypodontia, Short philtrum, Everted lower lip vermilion, ... |
OMIM:618342 |
| Dermatomyositis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morph... |
ORPHA:221 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Dry skin |
OMIM:275100 |
| Pierpont Syndrome |
|
Widely spaced teeth, Prominent median palatal raphe, Everted lower lip vermilion, Smooth philtrum... |
OMIM:602342 |
| Atypical Werner Syndrome |
|
Lack of skin elasticity, Thin skin, Premature graying of hair, Prematurely aged appearance, Skin ... |
ORPHA:79474 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Immunodeficiency 23 |
|
High palate, Bronchiectasis, Allergic rhinitis, Asthma, Eczema, Chronic mucocutaneous candidiasis... |
OMIM:615816 |
| Loeys-Dietz Syndrome 4 |
|
Striae distensae, Pneumothorax, Hyperextensible skin, High palate, Bifid uvula, Bruising suscepti... |
OMIM:614816 |
| De Barsy Syndrome |
|
Dermal translucency, Cutis laxa, Excessive wrinkled skin |
ORPHA:2962 |
| Fibromuscular Dysplasia, Multifocal |
|
Striae distensae, Hyperextensible skin, Dermal translucency, Soft, doughy skin, Soft skin |
OMIM:619329 |
| Central Diabetes Insipidus |
|
Hyponatremia, Polydipsia, Dehydration |
ORPHA:178029 |
| Dermoodontodysplasia |
|
Dry skin |
ORPHA:1660 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... |
ORPHA:2228 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Dry skin |
ORPHA:2617 |
| Xeroderma Pigmentosum Variant |
|
Dry skin |
ORPHA:90342 |
| Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Dry skin, Acanthosis nigricans |
OMIM:262190 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Pustule, Scaling skin, Erythema, Generalized abnormality of ... |
ORPHA:294023 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hyperammonemia, Dehydration |
ORPHA:28 |
| Prolidase Deficiency |
|
High palate, Prolonged neonatal jaundice, Petechiae, Crusting erythematous dermatitis, Asthma, Sk... |
OMIM:170100 |
| Progeroid Syndrome, Petty Type |
|
Cutis laxa, Reduced subcutaneous adipose tissue, Everted lower lip vermilion, Redundant skin, Too... |
ORPHA:2963 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Everted lower lip vermilion, Oligodontia, Anodontia |
ORPHA:276630 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hyperammonemia, Choreoathetosis, Dystonia, Dehydration |
ORPHA:79312 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Everted lower lip vermilion, Thin upper lip vermilion, Short philtrum, Wide mouth |
ORPHA:2429 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Acne inversa, Eczema, Subungual hyperkeratosis, Orthokeratosis |
OMIM:617337 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin |
OMIM:617364 |
| Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Hyperkeratotic papule, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratos... |
ORPHA:189 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin |
ORPHA:1035 |
| De Sanctis-Cacchione Syndrome |
|
Parakeratosis |
OMIM:278800 |
| Juvenile Idiopathic Arthritis |
|
Thickened skin, Pericardial effusion, Skin rash, Joint swelling, Generalized hyperkeratosis, Psor... |
ORPHA:92 |
| Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
