| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Pruritus, Annular cutaneous lesion, Abnormal skin morphology of the palm, ... |
ORPHA:737 |
| Darier Disease |
|
Plantar pits, Macule, Abnormality of skin pigmentation, Pruritus, Subungual hyperkeratotic fragme... |
ORPHA:218 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Palmoplantar blistering, Milia, Hyperkeratosis |
OMIM:131800 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Erythematous plaque, Pruritis on abd... |
ORPHA:64745 |
| Dowling-Degos Disease |
|
Hyperkeratotic papule, Abnormality of the hand, Epidermoid cyst, Progressive reticulate hyperpigm... |
ORPHA:79145 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Hyperkeratotic papule, Keloids, Mitten deformity, Pruritus, Erythematous papule, Atrophic scars, ... |
ORPHA:79410 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis, Verrucous papule, Skin nodule, Hamartoma |
ORPHA:139414 |
| Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Erythrokeratoderma ''En Cocardes'' |
|
Neoplasm of the skin, Abnormality of skin pigmentation, Neoplasm, Papule, Hyperkeratosis |
ORPHA:315 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Erythema migrans, Pruritus, Hyperpigmentation of the s... |
ORPHA:158681 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Neoplasm of the skin, Erythroderma, Pustule, Erythematous plaque, Acanth... |
ORPHA:79481 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis, Papule, Irregular hyperpigmentation, Multiple cafe-au-lait spots |
ORPHA:1336 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Pruritus, Porokeratosis, Aplasia/Hypoplasia of the skin |
ORPHA:735 |
| Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Abnormal phalangeal j... |
ORPHA:498359 |
| Acquired Ichthyosis |
|
Multiple myeloma, Pruritus, Erythema, Palmoplantar keratoderma, Neoplasm, Lymphoma, Sarcoma, Recu... |
ORPHA:454 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Skin erosion, Hyperkeratosis, Skin vesicle |
ORPHA:2841 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... |
OMIM:148730 |
| Lichen Planus Pemphigoides |
|
Hyperkeratosis, Pruritus, Hypopigmented streaks, Skin vesicle |
ORPHA:254478 |
| Insulin-Resistance Syndrome Type A |
|
Subcutaneous nodule, Generalized hyperpigmentation, Hyperkeratosis |
ORPHA:2297 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule |
OMIM:615327 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:146750 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
| Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Nevus, Pruritus, Atrophic scars, Hyperpigmentation of the skin, Hypopigmentation of the skin, Ski... |
ORPHA:89838 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Spotty hypopigmentation, Hypomelanotic macule, Pruritus, Spotty hyperpigm... |
ORPHA:79399 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Hemangioma, Papilloma, Skin plaque |
ORPHA:464318 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Acrokeratosis Verruciformis |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101900 |
| Cole Disease |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615522 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal skin morphology of the palm, ... |
ORPHA:69125 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:617525 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Pruritus, Basal cell carcinoma, Papule, Squamous cell carci... |
ORPHA:409 |
| Iga Pemphigus |
|
Pustule, Acantholysis, Pruritus, Annular cutaneous lesion, Neutrophilic infiltration of the skin,... |
ORPHA:555905 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Skin pit, Periauricular skin pits, Pruritus, Atrophic scars, Erythema, Hyp... |
ORPHA:79100 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin |
OMIM:617571 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:270220 |
| Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
| Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Cutis laxa, Annular cutaneous lesion, Erythematous papule, Skin-colored pa... |
ORPHA:79148 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Autoamputation of digits, Recurrent skin infections, Ichthyosis, Hyperkeratosis, Diffuse palmopla... |
ORPHA:79503 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormality of the elbow, Pruritus, Atrophic scars, Dermal atrophy, Abnormality of the wrist, Abn... |
ORPHA:89843 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis |
OMIM:615598 |
| Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis |
ORPHA:455 |
| Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
| Parana Hard Skin Syndrome |
|
Thickened skin, Tapered finger, Generalized hyperpigmentation, Hyperkeratosis |
ORPHA:2812 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Hyperkeratosis, Sclerodactyly, Camptodactyly of finger, Facial erythema, Dry skin, Palmoplantar h... |
OMIM:212360 |
| Classic Mycosis Fungoides |
|
Hypopigmented skin patches, Neoplasm of the skin, Eczema, Skin plaque, Pruritus, Erythema, Lympho... |
ORPHA:2584 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Erythematous papule, Discoid lupus rash, ... |
ORPHA:90280 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... |
ORPHA:312 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Pachyonychia Congenita 4 |
|
Palmoplantar keratoderma, Steatocystoma multiplex, Hyperkeratosis |
OMIM:615728 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Pruritus, Erythematous papule, Perif... |
ORPHA:79147 |
| Bazex Syndrome |
|
Lip hyperpigmentation, Acanthosis nigricans, Liposarcoma, Lung adenocarcinoma, Pruritus, Palmopla... |
ORPHA:166113 |
| Erythrokeratodermia Variabilis |
|
Neoplasm of the skin, Patchy palmoplantar hyperkeratosis, Macule, Tapered finger, Erythema, Irreg... |
ORPHA:317 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Follicular hyperkeratosis, Skin vesicle |
OMIM:613102 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Dry skin, Erythematous papule, Acne, Dermal atrophy, Follicular hyperkerat... |
ORPHA:3406 |
| Porokeratosis |
|
Abnormality of skin pigmentation, Pruritus, Squamous cell carcinoma of the skin, Dermal atrophy, ... |
ORPHA:79358 |
| Familial Keratoacanthoma |
|
Adenoma sebaceum, Neoplasm, Papule, Papilloma, Hyperkeratosis, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
| Darier-White Disease |
|
Plantar pits, Acantholysis, Palmar pits, Pruritus, Subungual hyperkeratotic fragments, Acrokerato... |
OMIM:124200 |
| Psoriasis 2 |
|
Scaling skin, Psoriasiform dermatitis, Hyperkeratosis, Parakeratosis |
OMIM:602723 |
| Pemphigoid Gestationis |
|
Pruritus, Skin vesicle |
ORPHA:63275 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Hypergranulosis, Congenital nonb... |
ORPHA:79395 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal hyperkeratosis, Interphalangeal joint contracture of finger, Clubbing, Hypergranulosis,... |
ORPHA:2199 |
| Erythema Elevatum Diutinum |
|
Skin rash, Skin nodule, Skin vesicle |
ORPHA:90000 |
| Warty Dyskeratoma |
|
Neoplasm of the tongue, Acantholysis, Erythematous papule, Umbilicated nodule, Skin-colored papul... |
ORPHA:69745 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Pemphigus Erythematosus |
|
Hypopigmented skin patches, Acantholysis, Erythematous plaque, Focal dermal aplasia/hypoplasia, S... |
ORPHA:79480 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Erythema, Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform e... |
OMIM:613943 |
| Recessive X-Linked Ichthyosis |
|
Dry skin, Ichthyosis, Hyperkeratosis |
ORPHA:461 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... |
OMIM:613736 |
| Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
| Lichen Planopilaris |
|
Hypopigmented skin patches, Pruritus, Dermal atrophy, Neoplasm of the oral cavity, Papule, Hyperk... |
ORPHA:525 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis |
OMIM:618339 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Pyoderma Gangrenosum |
|
Pustule, Myelodysplasia, Atrophic scars, Papule, Myeloid leukemia, Skin ulcer, Skin vesicle |
ORPHA:48104 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Erythematous plaque, Parakerat... |
OMIM:618531 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Vitiligo, Multiple lentigines, Hyperkeratosis, Progressive hyperpigme... |
OMIM:145250 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Skin nodule, Parakeratosis |
ORPHA:199267 |
| Irida Syndrome |
|
Pallor, Ichthyosis, Hyperkeratosis |
ORPHA:209981 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Erythroderma, Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Congenit... |
OMIM:612281 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Acrokeratosis Verruciformis Of Hopf |
|
Verrucae, Skin-colored papule, Hypergranulosis, Hyperkeratosis, Punctate palmoplantar hyperkerato... |
ORPHA:79151 |
| Peeling Skin Syndrome 4 |
|
Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin |
OMIM:607936 |
| Pityriasis Rubra Pilaris |
|
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... |
ORPHA:2897 |
| Wells Syndrome |
|
Pruritus, Skin vesicle |
ORPHA:901 |
| Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Pruritus, Recurrent skin infections, Ichthyosis, Facial erythema, Dry ... |
OMIM:603165 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis, Pruritus |
ORPHA:505 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Widely spaced toes, Acantholysis, Mitten deformity, Aplasia cutis congenita, Sandal gap, Skin ero... |
OMIM:609638 |
| Dermatitis Herpetiformis |
|
Eczema, Macule, Pruritus, Erythema, Skin vesicle |
ORPHA:1656 |
| Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis |
|
Congenital bullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:607602 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Palmar hyperhidrosis, Yellow papule, Hypergranulosis, Orthokeratosis, Piez... |
ORPHA:38 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Plantar hyperkeratosis, Spotty hypopigmentation, Hypomelanotic macule, Ret... |
ORPHA:79397 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:606545 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Li... |
ORPHA:87503 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Palmoplantar keratoderma, Scarring alopecia of scalp, Squamous cell carcinoma, Icht... |
OMIM:602540 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
| Ichthyosis With Confetti |
|
Erythroderma, Palmoplantar hyperkeratosis, Clubbing, Hyperkeratosis |
OMIM:609165 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, R... |
OMIM:615508 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
| Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Pruritus, Parakeratosis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
| Pemphigus Vulgaris |
|
Atypical scarring of skin, Acantholysis, Recurrent cutaneous abscess formation |
ORPHA:704 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Leopard Syndrome 3 |
|
Epidermal hyperkeratosis, Webbed neck, Cubitus valgus, Multiple lentigines, Few cafe-au-lait spot... |
OMIM:613707 |
| Chromomycosis |
|
Hypopigmented skin patches, Verrucous papule, Hyperkeratotic papule, Multiple cutaneous malignanc... |
ORPHA:182 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Neoplasm, Esophageal carcinoma, Parakeratosis |
OMIM:148500 |
| Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Papule, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:494 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Erythema, Ichthyosis, Hyperke... |
ORPHA:816 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hallux valgus, Osteolytic defects of the phalanges of the hand, Hyperkeratosis |
OMIM:615632 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Pruritus, Erythema, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis |
OMIM:615821 |
| Hypotrichosis 6 |
|
Pruritus, Follicular hyperkeratosis, Erythema |
OMIM:607903 |
| Sweet Syndrome |
|
Chronic lymphatic leukemia, Abnormality of the hand, Predominantly dermal neutrophilic infiltrate... |
ORPHA:3243 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Short finger, Erythema, Palmoplantar keratoderma, Hypergranulosis, Congenital nonbullous ichthyos... |
OMIM:242100 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... |
OMIM:601952 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Vulvovaginal Gingival Syndrome |
|
Skin erosion, Pruritus, Erythema, Parakeratosis |
ORPHA:83453 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Erythematous plaque, Palmoplantar keratoderma, Parakeratosis, Hypergran... |
OMIM:173200 |
| Proteus Syndrome |
|
Epidermal nevus, Depigmentation/hyperpigmentation of skin, Nevus, Hemangioma, Lymphangioma, Lipom... |
OMIM:176920 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Hennekam-Beemer Syndrome |
|
Macule, Generalized hyperpigmentation, Abnormality of skin pigmentation, Pruritus, Thickened skin... |
ORPHA:2135 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Atopic dermatitis, Dry skin, Erythema, Decreased movement range in interphalangeal joints, Scalin... |
ORPHA:530838 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... |
ORPHA:284426 |
| Bathing Suit Ichthyosis |
|
Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Au... |
ORPHA:100976 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis |
OMIM:133200 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke... |
ORPHA:2200 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Papule, Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:257 |
| Retinohepatoendocrinologic Syndrome |
|
Abnormality of skin pigmentation, Pallor |
OMIM:268040 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Epidermal hyperkeratosis, Hyperpigmentation of the skin, Palmoplantar keratoderma, Palmoplantar e... |
OMIM:104100 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Abnormality of skin pigmentation, Ichthyosis, Hyperkeratosis |
OMIM:612379 |
| Porphyria Variegata |
|
Hepatocellular carcinoma, Hyperpigmentation of the skin, Thickened skin, Hypopigmentation of the ... |
ORPHA:79473 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Scaling skin, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616295 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Pruritus, Erythema, Palmoplantar keratoderma, Arachnodactyly... |
ORPHA:742 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:618546 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Generalized hyperkeratosis |
ORPHA:2269 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Palmoplantar h... |
OMIM:300918 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Pruritus, Lymphoma, Papule, Skin rash, Skin ulcer, Skin vesicle |
ORPHA:2314 |
| Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Hyperkeratosis, Erythroderma, Scaling skin |
OMIM:609180 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
| Huriez Syndrome |
|
Palmoplantar keratoderma, Sclerodactyly, Lack of skin elasticity, Aplasia/Hypoplasia of the skin,... |
ORPHA:384 |
| Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia |
OMIM:615883 |
| Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin |
OMIM:614457 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis, Abnormality of limb bone morphology, Freckling, Melanocytic nevus |
ORPHA:1573 |
| Gracile Syndrome |
|
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate |
OMIM:603358 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Porokeratosis 1, Multiple Types |
|
Neoplasm of the skin, Porokeratosis, Parakeratosis |
OMIM:175800 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... |
OMIM:148700 |
| Vohwinkel Syndrome, Variant Form |
|
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis |
OMIM:604117 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis, Cafe-au-lait spot |
OMIM:618625 |
| Lamellar Ichthyosis |
|
Erythroderma, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Dry skin |
ORPHA:313 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Pallor, Hypopigmentation of the skin |
ORPHA:2786 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis, Dermal atrophy |
OMIM:136300 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderm... |
OMIM:613576 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Brain neoplasm, Basal cell carcinoma, Palmoplantar keratoderma, Neoplasm of the skeletal system, ... |
ORPHA:79501 |
| Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo... |
OMIM:619208 |
| Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Folliculitis, Palmoplantar keratoderma, Scarring alopecia of scalp, Follicular hyperkeratosis, Fa... |
OMIM:308800 |
| Lipoid Proteinosis |
|
Pustule, Verrucae, Thickened skin, Acne, Papule, Hyperkeratosis, Subcutaneous nodule |
ORPHA:530 |
| Rare Cutaneous Lupus Erythematosus |
|
Skin detachment, Skin erosion, Erythematous macule, Mixed hypo- and hyperpigmentation of the skin... |
ORPHA:535 |
| Hypomagnesemia, Seizures, And Mental Retardation 1 |
|
Hypomagnesemia |
OMIM:616418 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
| Palmoplantar Keratoderma, Epidermolytic |
|
Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis, Localized epidermolyt... |
OMIM:144200 |
| Porokeratosis 7, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:614714 |
| Dyskeratosis Congenita |
|
Hypopigmented skin patches, Macule, White hair, Skin ulcer, Palmoplantar keratoderma, Neoplasm of... |
ORPHA:1775 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Skin Fragility-Woolly Hair Syndrome |
|
Palmoplantar keratosis with erythema and scale, Acantholysis |
OMIM:607655 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Lichenoid skin lesion, Erythematous plaque, Thickened skin, Recurrent cutaneous fungal infections... |
ORPHA:495 |
| Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis |
OMIM:616029 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis |
OMIM:148600 |
| Hidrotic Ectodermal Dysplasia |
|
Hyperkeratotic papule, Hyperpigmentation of the skin, Palmoplantar keratoderma, Thickened skin, C... |
ORPHA:189 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
| Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
| Uremic Pruritus |
|
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia |
ORPHA:94059 |
| Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
| Linear Verrucous Nevus Syndrome |
|
Toe syndactyly, Verrucous papule, Astrocytoma, Neoplasm of the central nervous system, Short meta... |
ORPHA:2611 |
| Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Ramon Syndrome |
|
Gingival fibromatosis, Abnormality of retinal pigmentation, Hyperkeratosis |
ORPHA:3019 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Harlequin Ichthyosis |
|
Erythroderma, Foot polydactyly, Ichthyosis, Hand polydactyly, Hyperkeratosis, Congenital ichthyos... |
ORPHA:457 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Thickened skin, Basal cell carcinoma, Squamous cell carcinoma of the ... |
ORPHA:79431 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:604777 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia |
OMIM:619658 |
| Porokeratosis 3, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175900 |
| Ichthyosis Prematurity Syndrome |
|
Erythroderma, Pruritus, Hyperpigmentation of the skin, Follicular hyperkeratosis, Generalized ich... |
OMIM:608649 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Follicular hyperkeratosis |
ORPHA:300179 |
| Meige Disease |
|
Angiosarcoma, Skin erosion, Recurrent bacterial skin infections, Atypical scarring of skin, Recur... |
ORPHA:90186 |
| Olmsted Syndrome 1 |
|
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis |
OMIM:614594 |
| Noonan Syndrome 8 |
|
Eczema, Palmoplantar cutis laxa, Webbed neck, Hyperpigmentation of the skin, Hyperkeratosis |
OMIM:615355 |
| Oculocerebrodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
| Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia |
OMIM:143880 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
| Epidermolytic Hyperkeratosis |
|
Scaling skin, Erythroderma, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythro... |
OMIM:113800 |
| Pten Hamartoma Tumor Syndrome |
|
Hyperkeratotic papule, Plantar pits, Thyroid carcinoma, Endometrial carcinoma, Hemangioma, Renal ... |
ORPHA:306498 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythematous plaque, Abnormality of the elbow, Erythema, Palmoplantar keratosis with erythema and... |
ORPHA:158673 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Palmoplantar keratoderma, Parakeratosis, Follicular hyperkeratosis, Finger joint hyper... |
OMIM:615225 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Erythema, Pustule, Parakeratosis |
OMIM:614204 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Penetrating foot ulcers, Skin ulcer, Hyperkeratosis |
ORPHA:36386 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor, Cafe-au-lait spot |
OMIM:615234 |
| X-Linked Sideroblastic Anemia |
|
Hyperpigmentation of the skin, Pallor |
ORPHA:75563 |
| Pachyonychia Congenita |
|
Epidermoid cyst, Steatocystoma multiplex, Linear arrays of macular hyperkeratoses in flexural are... |
ORPHA:2309 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Dry skin, Hyperkeratosis |
ORPHA:1028 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Ichthyosis, Acute leukemia, Hyperkeratosis |
ORPHA:281090 |
| Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Joint contracture of the 5th finger, Arachnodactyly, Camptodactyly of finger, Hyperkeratosis |
ORPHA:1883 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Pallor, Shoulder girdle muscle weakness |
OMIM:608423 |
| Mednik Syndrome |
|
Ichthyosis, Hyperkeratosis |
ORPHA:171851 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... |
ORPHA:405 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
| Neonatal Hemochromatosis |
|
Increased serum iron, Increased circulating ferritin concentration |
ORPHA:446 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin, Tapered finger |
OMIM:181600 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Dry skin, Orthokeratosis, Ichthyosis, Parakeratosis |
OMIM:607626 |
| Werner Syndrome |
|
Ovarian neoplasm, Thyroid carcinoma, Meningioma, Acral lentiginous melanoma, Neoplasm of the smal... |
ORPHA:902 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Acne inversa, Hyperkeratosis |
OMIM:617337 |
| Chikungunya |
|
Macule, Petechiae, Depigmentation/hyperpigmentation of skin, Pruritus, Erythema, Maculopapular ex... |
ORPHA:324625 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Congenital ichthyosiform erythroderma, Erythroderma, Palmoplantar hyperkeratosis, Parakeratosis |
OMIM:242300 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Chronic Mucocutaneous Candidiasis |
|
Pruritus, Erythema, Papule, Skin rash, Hyperkeratosis, Skin ulcer |
ORPHA:1334 |
| Pachyonychia Congenita 3 |
|
Epidermoid cyst, Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Pl... |
OMIM:615726 |
| Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Spontaneous Periodic Hypothermia |
|
Pallor, Skin rash |
ORPHA:29822 |
| Lethal Acantholytic Erosive Disorder |
|
Acantholysis, 3-4 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of the 5th finger, 2-3 f... |
ORPHA:158687 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
| Hypophosphatasia, Infantile |
|
Hypercalcemia, Elevated plasma pyrophosphate |
OMIM:241500 |
| Milroy Disease |
|
Hyperkeratosis, Neoplasm of the skin, Erysipelas, Angiosarcoma |
ORPHA:79452 |
| Pachyonychia Congenita 2 |
|
Palmoplantar hyperhidrosis, Folliculitis, Steatocystoma multiplex, Subungual hyperkeratosis, Epid... |
OMIM:167210 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Generalized hypopigmentation of hair, Thin skin, Irregular hyperpigmentation, Hyperkerato... |
ORPHA:238468 |
| Costello Syndrome |
|
Acanthosis nigricans, Generalized hyperpigmentation, Ulnar deviation of finger, Lack of skin elas... |
ORPHA:3071 |
| Cardiofaciocutaneous Syndrome 3 |
|
Webbed neck, Hyperkeratosis |
OMIM:615279 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Palmoplantar keratoderma, Squamous cell carcinoma of the skin |
ORPHA:85112 |
| Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:79230 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Abnormality of the calcaneus, Metaphyseal cupping of metacarpals, Rhizomelia, Short foot, Short p... |
ORPHA:163966 |
| Pilodental Dysplasia With Refractive Errors |
|
Follicular hyperkeratosis, Reticular hyperpigmentation |
OMIM:262020 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Calcinosis, Hypophosphatemia |
OMIM:239200 |
| Popov-Chang syndrome |
|
Small hand, Short foot, Hyperkeratosis, Dry skin, Clinodactyly of the 5th finger |
OMIM:618428 |
| Mycetoma |
|
Abnormality of forearm bone, Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis... |
ORPHA:2583 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Skin ulcer, Hyperkeratosis |
ORPHA:1806 |
| Myopathic Ehlers-Danlos Syndrome |
|
Adducted thumb, Talipes equinovarus, Congenital finger flexion contractures, Tapered finger, Join... |
ORPHA:536516 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:602400 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Hemochromatosis, Neonatal |
|
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis |
OMIM:231100 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Laryngeal papilloma |
OMIM:617388 |
| Rare Circulatory System Disease |
|
Abnormal metatarsal morphology, Enlargement of the wrists, Abnormality of the elbow, Abnormality ... |
ORPHA:98028 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
| Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Skin nodule, Erythematous plaque, Lymphoid leukemia, Brain neoplasm, Basal cell... |
ORPHA:79140 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis, Multiple cafe-au-lait spots |
ORPHA:1809 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
OMIM:618440 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Trichothiodystrophy 1, Photosensitive |
|
Erythroderma, Freckling, Basal cell carcinoma, Congenital nonbullous ichthyosiform erythroderma, ... |
OMIM:601675 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor, Syndactyly |
OMIM:615631 |
| Neonatal Lupus Erythematosus |
|
Erythematous plaque, Parakeratosis, Malar rash, Maculopapular exanthema, Skin rash, Hyperkeratosis |
ORPHA:398124 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia |
OMIM:179800 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Broad palm, Limb undergrowth, Overlapping toe, Skin vesicle |
ORPHA:99843 |
| Hemochromatosis, Type 2B |
|
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:613313 |
| Odontoonychodermal Dysplasia |
|
Erythema, Hypergranulosis, Orthokeratosis, Dry skin, Palmoplantar hyperhidrosis, Plantar hyperker... |
OMIM:257980 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
| Leishmaniasis |
|
Skin ulcer, Pallor, Papule, Skin plaque |
ORPHA:507 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:36913 |
| Kid Syndrome |
|
Trichilemmoma, Neoplasm of the skin, Skin nodule, Palmoplantar keratoderma, Acne inversa, Skin pl... |
ORPHA:477 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Skin rash, Lymphoma |
ORPHA:90036 |
| Myelofibrosis |
|
Myeloproliferative disorder, Pallor, Purpura |
OMIM:254450 |
| Xeroderma Pigmentosum |
|
Hypopigmented skin patches, Macule, Freckling, Thickened skin, Erythema, Neoplasm, Thin skin, Mel... |
ORPHA:910 |
| Premature Aging Syndrome, Penttinen Type |
|
Osteolytic defects of the phalanges of the hand, Brachydactyly, Hyperkeratosis |
OMIM:601812 |
| Kindler Epidermolysis Bullosa |
|
Short 5th metacarpal, Abnormality of skin pigmentation, Erythema, Palmoplantar keratoderma, Hyper... |
ORPHA:2908 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
| Cowden Syndrome |
|
Neoplasm of the skin, Meningioma, Endometrial carcinoma, Palmoplantar keratoderma, Papilloma, Con... |
ORPHA:201 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Generalized reticulate brown pigmentation, Interphalangeal joint contracture of finger, Subungual... |
ORPHA:69087 |
| Spinocerebellar Ataxia 34 |
|
Hyperkeratosis |
OMIM:133190 |
| Retinitis Pigmentosa 51 |
|
Pallor, Bone spicule pigmentation of the retina |
OMIM:613464 |
| Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Joint contracture of the hand, Hyperkeratosis, Atypical scarring of skin, Camptodactyly, Dry skin |
OMIM:601701 |
| Candidiasis, Familial, 2 |
|
Decreased serum iron |
OMIM:212050 |
| Donohue Syndrome |
|
Large hands, Acanthosis nigricans, Hypermelanotic macule, Hyperkeratosis |
OMIM:246200 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Abnormality of the elbow, Synostosis of carpal bones, Finger synd... |
ORPHA:1005 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Toxic Epidermal Necrolysis |
|
Erythema, Macule, Skin ulcer, Acantholysis |
ORPHA:537 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Generalized reticulate brown pigmentation, Depigmentation/hyperpigmentation of skin, Atrophic sca... |
ORPHA:79396 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Dry skin, Postaxial polydactyly, Hyperkeratosis |
OMIM:614576 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
| Cardiofaciocutaneous Syndrome |
|
Cavernous hemangioma, Abnormality of the ulna, Generalized hyperpigmentation, Excessive wrinkled ... |
ORPHA:1340 |
| Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
| Juvenile Idiopathic Arthritis |
|
Generalized hyperkeratosis, Psoriasiform dermatitis, Thickened skin, Skin rash |
ORPHA:92 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Thickened skin, Basal cell carcinoma, Squamous ce... |
ORPHA:79434 |
| Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Bethlem Myopathy |
|
Interphalangeal joint contracture of finger, Cigarette-paper scars, Curved toe phalanx, Wrist fle... |
ORPHA:610 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Primary Myelofibrosis |
|
Ecchymosis, Petechiae, Hemangioma, Purpura, Hematological neoplasm, Pallor |
ORPHA:824 |
| Chronic Graft Versus Host Disease |
|
Abnormality of skin pigmentation, Thickened skin, Intermittent generalized erythematous papular r... |
ORPHA:99921 |
| Naxos Disease |
|
Palmoplantar keratoderma, Acantholysis |
OMIM:601214 |
| Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:28378 |
| Stevens-Johnson Syndrome |
|
Erythema, Macule, Acantholysis |
ORPHA:36426 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Mastocytosis |
|
Hypercalcemia |
ORPHA:98292 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Pallor, Acute leukemia |
ORPHA:3226 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Pallor, Myelodysplasia, Refractory anemia with ringed sideroblasts |
ORPHA:75564 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Erythroderma, Follicular hyperkeratosis, Scaling skin, Postaxial hand polydactyly, Dry skin |
OMIM:308205 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
| Autoimmune Hemolytic Anemia |
|
Pallor, Lymphoma |
ORPHA:98375 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level |
ORPHA:95409 |
| Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Carcinoma, Laryngeal carcinoma, Palmoplantar keratoderma, Scleroda... |
OMIM:610644 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
| American Trypanosomiasis |
|
Localized skin lesion, Pallor, Skin rash |
ORPHA:3386 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Short 1st metacarpal, Short thumb, Absent thumb, Pallor, Cafe-au-lait spot |
OMIM:609053 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Gardner Syndrome |
|
Keloids, Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, P... |
ORPHA:79665 |
| Incontinentia Pigmenti |
|
Hypopigmented skin patches, Abnormality of skin pigmentation, Verrucae, Erythema, Finger syndacty... |
ORPHA:464 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... |
ORPHA:766 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Generalized reticulate brown pigmentation, Reticular hyperpigmentation, Clubbing, Hyperkeratosis |
OMIM:301220 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
| Hemochromatosis, Type 3 |
|
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:604250 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
| Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Pallor, Lymphoproliferative disorder |
ORPHA:90033 |
| Incontinentia Pigmenti |
|
Abnormality of skin pigmentation, Pallor, Erythema, Hyperkeratosis |
OMIM:308300 |
| Eec Syndrome |
|
Toe syndactyly, Nevus, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Lymphoma, Fi... |
ORPHA:1896 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... |
ORPHA:53693 |
| Noonan Syndrome 10 |
|
Palmoplantar cutis laxa, Webbed neck, Hyperpigmentation of the skin, Cubitus valgus, Hyperkeratos... |
OMIM:616564 |
| Hermansky-Pudlak Syndrome |
|
Partial albinism, Ocular albinism, Thickened skin, Basal cell carcinoma, Squamous cell carcinoma ... |
ORPHA:79430 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Chronic lymphatic leukemia, Myelodysplasia, Multiple myeloma, Pruritus, Chronic myelomonocytic le... |
ORPHA:98849 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Squamous cell carcinoma, Ichthyosis, Hyperkeratosis, Elbow f... |
OMIM:148210 |
| Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
| Netherton Syndrome |
|
Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Parakeratosis |
OMIM:256500 |
| Noonan Syndrome 2 |
|
Palmoplantar cutis laxa, Nevus, Leukemia, Hyperpigmentation of the skin, Cubitus valgus, Hyperker... |
OMIM:605275 |
| Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
| Rheumatic Fever |
|
Pallor, Subcutaneous nodule, Macule, Erythema |
ORPHA:3099 |
| Monosomy 13Q34 |
|
Infantile hypercalcemia |
ORPHA:96168 |
| Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
| Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Abnormal circulating copper concentration |
OMIM:121270 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... |
OMIM:601678 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Nevus, Hyperparakeratosis, Macrodactyly, 2-4 toe syndactyly, Foot polydact... |
ORPHA:276280 |
| Chime Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Acute leukemia, Aplasia/Hypoplasia of the phalan... |
ORPHA:3474 |
| Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... |
ORPHA:31824 |
