Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop... |
ORPHA:530838 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma,... |
OMIM:113800 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Huriez Syndrome |
|
Dry skin, Lack of skin elasticity, Sclerodactyly, Palmoplantar keratoderma |
ORPHA:384 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Acrokeratosis |
OMIM:101900 |
Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... |
OMIM:617526 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Scal... |
OMIM:612281 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthoke... |
OMIM:607936 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis |
ORPHA:464318 |
Acral Self-Healing Collodion Baby |
|
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus |
ORPHA:737 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea |
ORPHA:90158 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth... |
OMIM:607602 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyp... |
ORPHA:79395 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
Peeling Skin Syndrome 3 |
|
Pruritus, Erythema, White scaling skin |
OMIM:616265 |
Dowling-Degos Disease 4 |
|
Pruritus, Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, P... |
ORPHA:100976 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor... |
OMIM:604777 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... |
ORPHA:498359 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Pruritus, Abnorm... |
ORPHA:79147 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Bazex Syndrome |
|
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigri... |
ORPHA:166113 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Ulerythema Ophryogenesis |
|
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... |
ORPHA:3406 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... |
ORPHA:87503 |
Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Erythroderma, Dry skin |
ORPHA:313 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosi... |
OMIM:616295 |
Atrophoderma Vermiculata |
|
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule |
ORPHA:79100 |
Ichthyosis With Confetti |
|
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos... |
OMIM:609165 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis |
OMIM:146700 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity, Tall stature |
OMIM:618406 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1366 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyp... |
ORPHA:2269 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly |
OMIM:212360 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... |
ORPHA:79481 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... |
ORPHA:312 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... |
OMIM:614457 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali... |
OMIM:133200 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Tal... |
ORPHA:3152 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... |
ORPHA:90280 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthok... |
OMIM:617525 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkerato... |
ORPHA:2199 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis, Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma |
OMIM:615022 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Scaling skin |
ORPHA:90283 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Dry skin, Scaling skin |
OMIM:612952 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis |
ORPHA:199267 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin |
ORPHA:2584 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Pruritus, Thickened skin, Erythema, Scaling skin |
ORPHA:79455 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma |
OMIM:609180 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Follicular hyperkeratosis |
ORPHA:69125 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Eosinophilic derma... |
ORPHA:293173 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis, Erythema, Epidermal acanthosis |
ORPHA:83453 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyper... |
OMIM:300918 |
Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos... |
OMIM:619208 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Thickened skin, Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1979 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79399 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Palmoplantar hyperkeratosis |
OMIM:604536 |
Peeling Skin Syndrome 1 |
|
Pruritus, Scaling skin, Erythroderma |
OMIM:270300 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Pruritus |
ORPHA:254478 |
Superficial Epidermolytic Ichthyosis |
|
Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis |
ORPHA:455 |
Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Hyperkeratosis, Malar rash, Psoriasiform lesion |
ORPHA:163525 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis |
ORPHA:89838 |
Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Stiff Skin Syndrome |
|
Thickened skin, Lack of skin elasticity |
ORPHA:2833 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Reduced epidermal extracellular matrix protein 1 protein expression |
OMIM:247100 |
Leri Pleonosteosis |
|
Thickened skin, Lack of skin elasticity |
ORPHA:2900 |
Cole Disease |
|
Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:615023 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis |
OMIM:148600 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
Acute Radiation Syndrome |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Scaling skin, Skin ulcer |
ORPHA:454831 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:130020 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Classic Phenylketonuria |
|
Eczema, Lack of skin elasticity |
ORPHA:79254 |
Darier Disease |
|
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... |
ORPHA:218 |
Erythrokeratodermia Variabilis |
|
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin |
ORPHA:317 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis... |
OMIM:148700 |
Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
Costello Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Redundant skin, Lack of skin elasticity |
ORPHA:3071 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis |
OMIM:610227 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Erythema, Scaling skin |
ORPHA:90156 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle |
ORPHA:158681 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis |
OMIM:615785 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... |
ORPHA:79151 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Dry skin, Scaling skin, Palmoplantar keratoderma |
OMIM:618373 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Erythema, Dry skin, Ichthyosis |
ORPHA:816 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthy... |
OMIM:242300 |
Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos... |
OMIM:603165 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Diffuse Cutaneous Mastocytosis |
|
Pruritus, Thickened skin, Scaling skin, Erythroderma |
ORPHA:79456 |
Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti... |
ORPHA:38 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P... |
OMIM:605676 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma |
OMIM:608649 |
Pseudoxanthoma Elasticum |
|
Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkled skin, Hyperextensible skin... |
ORPHA:758 |
Lichen Planopilaris |
|
Pruritus, Hyperkeratosis, Skin ulcer |
ORPHA:525 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Skin vesicle, Cutaneous a... |
ORPHA:555905 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmo... |
OMIM:602540 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Mpdu1-Cdg |
|
Eczema, Scaling skin, Ichthyosis |
ORPHA:79323 |
Antisynthetase Syndrome |
|
Pruritus, Skin rash, Lack of skin elasticity |
ORPHA:81 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... |
ORPHA:2897 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
ORPHA:2200 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythro... |
OMIM:242100 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Seborrheic dermatitis, Chroni... |
OMIM:618131 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Excessive wrinkled skin, Redundant skin, Lack of skin elasticity |
OMIM:612940 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Werner Syndrome |
|
Hyperkeratosis, Lack of skin elasticity, Skin ulcer |
ORPHA:902 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin |
OMIM:612379 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Baralle-Macken Syndrome |
|
Acanthosis nigricans, Striae distensae |
OMIM:619255 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Dry skin, Palmoplantar keratoderma |
OMIM:224750 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Striae distensae |
OMIM:618793 |
Darier-White Disease |
|
Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Lack of skin elasticity |
OMIM:615381 |
Dowling-Degos Disease |
|
Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa |
ORPHA:79145 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin |
OMIM:308800 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
8Q22.1 Microdeletion Syndrome |
|
Lack of skin elasticity |
ORPHA:178303 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Hyperextensible skin, Petechiae, Striae distensae |
OMIM:225310 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Proteus Syndrome |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:176920 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Pustule, Erythema |
OMIM:614204 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Scaling skin, Follicu... |
ORPHA:158668 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Increased number of skin folds, Redundant skin, Cutis laxa |
ORPHA:436274 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ... |
OMIM:615508 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hyperextensible skin, Follicular hyperkeratosis |
ORPHA:300179 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
Mitral Valve Prolapse 1 |
|
Striae distensae |
OMIM:157700 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Erythroderma, Scaling skin, Ichthyosis |
ORPHA:35173 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis |
OMIM:613102 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly |
ORPHA:1010 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Abnormal elasticity of skin, Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Scaling skin, Chronic oral candidiasis |
OMIM:606367 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:494 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma |
OMIM:613576 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Basan Syndrome |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:129200 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Leopard Syndrome 3 |
|
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis |
OMIM:613707 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... |
ORPHA:294023 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Prolidase Deficiency |
|
Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer, Hyperkeratosis, Palmoplantar ke... |
ORPHA:742 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... |
OMIM:259700 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:616029 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Noonan Syndrome 8 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin, Eczema |
OMIM:615355 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis |
OMIM:618625 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Ichthyosis, Orthokeratosis, Dry skin |
OMIM:607626 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Pruritus, Erythroderma |
ORPHA:330064 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Dry skin, Ichthyosis |
OMIM:610768 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis |
ORPHA:1334 |
Neu-Laxova Syndrome |
|
Lack of skin elasticity, Ichthyosis |
ORPHA:2671 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis |
ORPHA:457 |
Mass Syndrome |
|
Striae distensae |
OMIM:604308 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
Recon Progeroid Syndrome |
|
Dry skin, Scaling skin |
OMIM:620370 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Scaling skin |
ORPHA:39812 |
Maxillonasal Dysplasia |
|
Striae distensae |
ORPHA:1248 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Rat-Bite Fever |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Pustule, Scaling skin, Morbilliform rash |
ORPHA:31205 |
Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... |
ORPHA:77297 |
Familial Cervical Artery Dissection |
|
Striae distensae |
ORPHA:36382 |
Weill-Marchesani Syndrome 2 |
|
Thickened skin, Lack of skin elasticity, Striae distensae |
OMIM:608328 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
Lipoid Proteinosis |
|
Hyperkeratosis, Thickened skin, Pustule, Acne |
ORPHA:530 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion, Erythroderma |
ORPHA:169154 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Lack of skin elasticity |
ORPHA:90153 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
Geleophysic Dysplasia 1 |
|
Thickened skin, Lack of skin elasticity |
OMIM:231050 |
Bacterial Toxic-Shock Syndrome |
|
Recurrent skin infections, Ecchymosis, Skin rash, Scaling skin |
ORPHA:36234 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Scaling skin, Cutaneous abscess |
ORPHA:101330 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:602400 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Erythema, Palmoplantar hyperkerato... |
OMIM:257980 |
Warty Dyskeratoma |
|
Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Follicular hyperkeratosis |
OMIM:615225 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
ORPHA:189 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis... |
ORPHA:79501 |
Riddle Syndrome |
|
Erythema, Chromosomal breakage induced by ionizing radiation, Scaling skin |
ORPHA:420741 |
Ramon Syndrome |
|
Hyperkeratosis |
ORPHA:3019 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Failure... |
OMIM:239000 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:606408 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Striae distensae |
OMIM:300354 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Thickened skin, Skin ulcer, Scaling skin, Dry skin, Erysipelas |
ORPHA:2526 |
Naxos Disease |
|
Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Diffuse palmoplantar hyperkeratosis... |
OMIM:601214 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Perianal erythema, Eczema, Recurrent skin infe... |
OMIM:308205 |
Scleroderma, Familial Progressive |
|
Scleroderma, Abnormality of chromosome stability, Chromosome breakage, Sclerodactyly |
OMIM:181750 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Redundant skin, Cutis laxa, Lack of skin elasticity |
ORPHA:90349 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Pustule, Hyperkeratosis, Epidermal acanthosis, Skin rash |
OMIM:612852 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Meige Disease |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections, ... |
ORPHA:90186 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... |
ORPHA:763 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:181600 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa |
OMIM:617337 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Skin ulcer |
ORPHA:1806 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Erythema nodosum, Psoriasiform lesion |
OMIM:614700 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Chromomycosis |
|
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule, Pruritus |
ORPHA:182 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Palmoplantar keratoderma, Ichthyosis |
OMIM:609528 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Malar rash |
ORPHA:85436 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Epidermal acanthosis |
OMIM:616069 |
Amyloidosis, Finnish Type |
|
Cutis laxa |
OMIM:105120 |
Atypical Werner Syndrome |
|
Hyperkeratosis, Lack of skin elasticity, Skin ulcer |
ORPHA:79474 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture |
ORPHA:77259 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Dry skin |
OMIM:614576 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Netherton Syndrome |
|
Parakeratosis, Recurrent skin infections, Eczema, Congenital nonbullous ichthyosiform erythroderm... |
OMIM:256500 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Dry skin, Scaling skin |
OMIM:618419 |
Radio-Tartaglia Syndrome |
|
Dry skin, Striae distensae |
OMIM:619312 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
Hypohidrotic Ectodermal Dysplasia |
|
Hyperkeratosis, Dry skin, Eczema |
ORPHA:238468 |
Trichothiodystrophy 1, Photosensitive |
|
Hyperkeratosis, Dry skin, Congenital nonbullous ichthyosiform erythroderma, Erythroderma |
OMIM:601675 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis |
OMIM:615279 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis |
ORPHA:1883 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa |
OMIM:614100 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Milroy Disease |
|
Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Restrictive Dermopathy |
|
Epidermal hyperkeratosis, Generalized hyperkeratosis, Scaling skin, Dermal translucency |
ORPHA:1662 |
Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Acantholysis |
OMIM:609638 |
Pituitary Adenoma 4, Acth-Secreting |
|
Ecchymosis, Purpura, Striae distensae, Facial erythema |
OMIM:219090 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Cutis laxa |
OMIM:301045 |
Desmosterolosis |
|
Increased bone mineral density, Failure to thrive, Osteopetrosis |
ORPHA:35107 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... |
OMIM:615726 |
Cardiofaciocutaneous Syndrome |
|
Redundant skin, Excessive wrinkled skin, Hyperkeratosis, Hyperextensible skin, Palmoplantar kerat... |
ORPHA:1340 |
Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
Lymphatic Malformation 12 |
|
Hyperkeratosis |
OMIM:620014 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Cutis laxa |
OMIM:619691 |
Gaucher Disease, Perinatal Lethal |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Petechiae, Purpura |
OMIM:608013 |
Poikiloderma With Neutropenia |
|
Hyperkeratosis, Plantar hyperkeratosis, Palmoplantar keratoderma, Skin rash |
OMIM:604173 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis |
OMIM:259720 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythrode... |
OMIM:308050 |
Restrictive Dermopathy 1 |
|
Scaling skin, Epidermal hyperkeratosis |
OMIM:275210 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Striae distensae |
OMIM:219080 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone, Weight loss |
ORPHA:2905 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
Pachyonychia Congenita |
|
Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Follicular h... |
ORPHA:2309 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Striae distensae |
OMIM:610475 |
Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Dry skin |
OMIM:601701 |
Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal synostosis, Ca... |
ORPHA:90652 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Epidermal hyperkeratosis, Dermal translucency |
OMIM:137940 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Loeys-Dietz Syndrome 4 |
|
Hyperextensible skin, Striae distensae |
OMIM:614816 |
Hutchinson-Gilford Progeria Syndrome |
|
Premature skin wrinkling, Lack of skin elasticity |
ORPHA:740 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Erythema, Atopic dermatitis, Cutis laxa, Facial erythema, Scaling skin, Ichthyosis, Dry skin |
OMIM:619503 |
Fibromuscular Dysplasia, Multifocal |
|
Soft skin, Hyperextensible skin, Soft, doughy skin, Striae distensae, Dermal translucency |
OMIM:619329 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis |
OMIM:246200 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones |
OMIM:127000 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis frontalis int... |
ORPHA:79443 |
Incontinentia Pigmenti |
|
Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor |
OMIM:308300 |
Bone Marrow Failure Syndrome 3 |
|
Hyperkeratosis, Chromosome breakage, Eczema |
OMIM:617052 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis |
OMIM:148210 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density, Obesity |
ORPHA:79444 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis |
ORPHA:33364 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss |
ORPHA:35687 |
Toxic Epidermal Necrolysis |
|
Erythema, Skin ulcer, Acantholysis |
ORPHA:537 |
Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae |
OMIM:609242 |
Noonan Syndrome 10 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin |
OMIM:616564 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:1005 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Striae distensae |
OMIM:610489 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Cutis laxa |
OMIM:610842 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Striae distensae |
ORPHA:189427 |
Lethal Acantholytic Erosive Disorder |
|
Acantholysis |
ORPHA:158687 |
Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation |
OMIM:259775 |
Desmosterolosis |
|
Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult... |
OMIM:602398 |
Incontinentia Pigmenti |
|
Hyperkeratosis, Erythema, Skin rash, Skin ulcer |
ORPHA:464 |
Noonan Syndrome 2 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Hyperextensible skin |
OMIM:605275 |
Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Cardiac Valvular Dysplasia, X-Linked |
|
Cutis laxa |
OMIM:314400 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
Stevens-Johnson Syndrome |
|
Erythema, Acantholysis |
ORPHA:36426 |
Adrenocortical Carcinoma |
|
Striae distensae |
ORPHA:1501 |
Macs Syndrome |
|
Redundant skin, Cutis laxa, Hyperextensible skin, Ichthyosis, Soft skin |
OMIM:613075 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Soft skin, Hyperextensible skin, Follicular hyperkeratosis, Cutis laxa |
OMIM:614557 |
Woodhouse-Sakati Syndrome |
|
Scaling skin |
ORPHA:3464 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Chime Syndrome |
|
Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis |
ORPHA:3474 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hyperkeratosis, Hyperextensible skin, Eczema, Ichthyosis |
OMIM:607721 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis |
OMIM:301220 |
Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis |
OMIM:254090 |
Xeroderma Pigmentosum |
|
Hyperkeratosis, Thickened skin, Erythema, Dry skin |
ORPHA:910 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly |
OMIM:610644 |
Loeys-Dietz Syndrome 6 |
|
Striae distensae |
OMIM:619656 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Excessive wrinkled skin, Hyperextensible skin, Follicular hyperkeratosis, Palmoplantar cutis laxa... |
OMIM:225400 |
Cednik Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:66631 |
Kindler Epidermolysis Bullosa |
|
Hyperkeratosis, Erythema, Recurrent skin infections, Palmoplantar keratoderma |
ORPHA:2908 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperkeratosis, Atopic dermatitis, Ichthyosis |
OMIM:115150 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Cutis Laxa, Autosomal Dominant 3 |
|
Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperkeratosis, Thickened skin, Palmoplantar hyperkeratosis |
OMIM:601812 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Sclerosteosis 1 |
|
Overgrowth, Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, ... |
OMIM:269500 |
Cushing Disease |
|
Acne, Recurrent cutaneous fungal infections, Skin ulcer, Ecchymosis, Striae distensae, Purpura |
ORPHA:96253 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Striae distensae |
OMIM:617168 |
Immunodeficiency 49 |
|
Psoriasiform dermatitis, Cutis laxa |
OMIM:617237 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Soft skin, Hyperextensible skin, Cutis laxa, Dermal translucency |
OMIM:615349 |
Pseudoxanthoma Elasticum |
|
Civatte bodies, Cutis laxa |
OMIM:264800 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Recurrent fractures |
ORPHA:416 |
Eec Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1896 |
Fucosidosis |
|
Generalized hyperkeratosis |
ORPHA:349 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis |
OMIM:620189 |
Agel Amyloidosis |
|
Pruritus, Dry skin, Cutis laxa |
ORPHA:85448 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis |
OMIM:615510 |
Mucoepithelial Dysplasia, Hereditary |
|
Chronic mucocutaneous candidiasis, Follicular hyperkeratosis |
OMIM:158310 |
Reactive Arthritis |
|
Pustule, Hyperkeratosis |
ORPHA:29207 |
Leprosy |
|
Hyperkeratosis, Penetrating foot ulcers, Acral ulceration |
ORPHA:548 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Hermansky-Pudlak Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:79430 |
Nelson Syndrome |
|
Striae distensae |
ORPHA:199244 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz... |
ORPHA:83617 |
Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Failure to thrive in infancy, Joint sti... |
ORPHA:904 |
Leprechaunism |
|
Acanthosis nigricans, Thickened skin, Hyperkeratosis, Hyperextensible skin |
ORPHA:508 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Redundant skin, Cutis laxa |
OMIM:219100 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Skin ulcer, Acantholysis |
ORPHA:95455 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density |
ORPHA:667 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis |
ORPHA:79280 |
Classical Ehlers-Danlos Syndrome |
|
Soft, doughy skin, Ecchymosis, Hyperextensible skin, Striae distensae |
ORPHA:287 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hyperkeratosis, Eczema, Ichthyosis |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hyperkeratosis, Eczema, Ichthyosis |
ORPHA:363958 |
Meester-Loeys Syndrome |
|
Striae distensae |
OMIM:300989 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperkeratosis, Erythema, Eczema, Ichthyosis |
ORPHA:2273 |
Cutis Laxa, Autosomal Dominant 1 |
|
Hyperextensible skin, Redundant skin, Cutis laxa |
OMIM:123700 |
Marfan Syndrome |
|
Striae distensae |
ORPHA:558 |
Marfan Syndrome |
|
Striae distensae |
OMIM:154700 |
Loeys-Dietz Syndrome 2 |
|
Soft skin, Striae distensae, Dermal translucency |
OMIM:610168 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Soft, doughy skin, Hyperextensible skin, Follicular hyperkeratosis |
ORPHA:536545 |
Warburg-Cinotti Syndrome |
|
Erythema, Follicular hyperkeratosis |
OMIM:618175 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Failure to thrive, Recurrent fractures |
ORPHA:2785 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Failure to thrive, Increased density of long bones, Thickened cortex of ... |
OMIM:269150 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Recurrent cutaneous fungal infections, Skin ulcer, Ecchymosis, Striae distensae, Purpura |
ORPHA:99889 |
Lymphatic Filariasis |
|
Hyperkeratosis |
ORPHA:2035 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hyperkeratosis, Dry skin |
OMIM:210710 |
Fabry Disease |
|
Hyperkeratosis |
ORPHA:324 |
Ramon Syndrome |
|
Hyperkeratosis |
OMIM:266270 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Redundant skin, Cutis laxa, Increased number of skin folds, Hyperextensible ... |
ORPHA:90348 |
Loeys-Dietz Syndrome |
|
Striae distensae |
ORPHA:60030 |
6Q Terminal Deletion Syndrome |
|
Hyperkeratosis |
ORPHA:75857 |
Loeys-Dietz Syndrome 3 |
|
Soft skin, Striae distensae, Dermal translucency |
OMIM:613795 |
Aneurysm-Osteoarthritis Syndrome |
|
Striae distensae |
ORPHA:284984 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hyperkeratosis |
OMIM:604292 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hyperkeratosis |
OMIM:129900 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin |
ORPHA:73223 |
Cowden Syndrome |
|
Palmoplantar keratoderma, Generalized hyperkeratosis |
ORPHA:201 |
Carney Complex |
|
Striae distensae |
ORPHA:1359 |
Proteus Syndrome |
|
Thickened skin, Generalized hyperkeratosis |
ORPHA:744 |