| Darier Disease |
|
Macule, Acrokeratosis, Hypermelanotic macule, Pruritus, Thickened skin, Plantar pits, Abnormality... |
ORPHA:218 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Abnormal skin morphology of the palm, Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin ... |
ORPHA:737 |
| Congenital Panfollicular Nevus |
|
Pruritus, Skin nodule, Verrucous papule, Hyperkeratosis, Hamartoma |
ORPHA:139414 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Palmoplantar blistering, Hyperkeratosis, Milia |
OMIM:131800 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem... |
ORPHA:64745 |
| Dowling-Degos Disease |
|
Hypopigmented macule, Inguinal freckling, Epidermoid cyst, Hypermelanotic macule, Abnormality of ... |
ORPHA:79145 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Papule, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation, Hyperkeratosis, Neoplasm, Neoplasm of the skin, Papule |
ORPHA:315 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Hematological neoplasm, Pruritus, Pustule, Erythema, Crust... |
ORPHA:79481 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, ... |
ORPHA:158681 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation, Papule |
ORPHA:1336 |
| Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin, Hyperkeratosis, Porokeratosis, Pruritus |
ORPHA:735 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Palmoplantar blistering, Pruritus, Skin erosion, Localized skin lesion, Erythematous papule, Atyp... |
ORPHA:79410 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis |
OMIM:101900 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion |
ORPHA:2841 |
| Aquagenic Palmoplantar Keratoderma |
|
Abnormal phalangeal joint morphology of the hand, Excessive skin wrinkling on dorsum of hands and... |
ORPHA:498359 |
| Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Lymphoma, Hyperkeratosis, Palmoplantar keratoderma... |
ORPHA:454 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
| Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Hypopigmented streaks, Pruritus |
ORPHA:254478 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hyperpigmentation, Subcutaneous nodule |
ORPHA:2297 |
| Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis |
OMIM:615327 |
| Reticulate Acropigmentation Of Kitamura |
|
Macule, Hyperkeratosis |
OMIM:615537 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Aplasia cutis congenita on trunk or limbs, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis,... |
ORPHA:89838 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Pru... |
ORPHA:79399 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Skin plaque, Papilloma, Hemangioma, Hyperkeratotic papule |
ORPHA:464318 |
| Ulerythema Ophryogenesis |
|
Acne, Erythematous papule, Hyperkeratotic papule, Facial erythema, Dermal atrophy, Follicular hyp... |
ORPHA:3406 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... |
OMIM:615598 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Annular cutaneous lesion,... |
ORPHA:555905 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Pruritus, Erythema, Periauricular skin pits, Neurofibroma, Atrop... |
ORPHA:79100 |
| Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Squam... |
ORPHA:409 |
| Anonychia With Flexural Pigmentation |
|
Abnormal skin morphology of the palm, Hypermelanotic macule, Axillary and groin hyperpigmentation... |
ORPHA:69125 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Autoamputation of digits, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperke... |
ORPHA:79503 |
| Elastosis Perforans Serpiginosa |
|
Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule, Erythem... |
ORPHA:79148 |
| Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis |
ORPHA:455 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Subcutaneous nodule, Abnormality of the elbow, Hyperkeratosis, Atrophic scars, Dermal a... |
ORPHA:89843 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, ... |
OMIM:212360 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hyperpigmentation, Tapered finger |
ORPHA:2812 |
| Classic Mycosis Fungoides |
|
Skin rash, Eczema, Cutaneous T-cell lymphoma, Pruritus, Erythema, Lymphoma, Hypopigmented skin pa... |
ORPHA:2584 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon... |
ORPHA:90280 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Atrophic scars |
OMIM:131850 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... |
ORPHA:312 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
| 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 |
| Bazex Syndrome |
|
Parakeratosis, Lip hyperpigmentation, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Neoplas... |
ORPHA:166113 |
| Erythrokeratodermia Variabilis |
|
Macule, Skin rash, Hypermelanotic macule, Tapered finger, Erythema, Patchy palmoplantar hyperkera... |
ORPHA:317 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Follicular hyperkeratosis |
OMIM:613102 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Erythematous plaque, Scali... |
OMIM:607602 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Eosinophilic derma... |
ORPHA:293173 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperker... |
ORPHA:79151 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
| Darier-White Disease |
|
Hypermelanotic macule, Acrokeratosis, Acantholysis, Palmar pits, Pruritus, Plantar pits, Subungua... |
OMIM:124200 |
| Familial Keratoacanthoma |
|
Subcutaneous nodule, Skin ulcer, Hyperkeratosis, Neoplasm, Adenoma sebaceum, Papilloma, Papule |
ORPHA:493 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Hyperkeratosis, Skin erosion, Skin plaque, Papule |
OMIM:247100 |
| Pemphigoid Gestationis |
|
Skin vesicle, Pruritus |
ORPHA:63275 |
| Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
| Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... |
ORPHA:2199 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... |
ORPHA:79480 |
| Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule, Skin rash |
ORPHA:90000 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... |
ORPHA:79395 |
| Warty Dyskeratoma |
|
Vulvar neoplasm, Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholysis, Localized ... |
ORPHA:69745 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
| Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
| Lichen Planopilaris |
|
Pruritus, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Dermal atrophy, Neoplasm of the... |
ORPHA:525 |
| Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... |
OMIM:613736 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Co... |
OMIM:612281 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl... |
OMIM:618531 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Skin nodule |
ORPHA:199267 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... |
OMIM:616295 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,... |
OMIM:145250 |
| Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis |
OMIM:607936 |
| Pyoderma Gangrenosum |
|
Myelodysplasia, Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Myeloid leukemia, Papule |
ORPHA:48104 |
| Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Scarring alopecia of scalp, Erythroderma, Palmoplantar hyperkeratosis, Squamous cell carcinoma, H... |
OMIM:602540 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Acantholysis, Aplasia cutis congenita, Widely spaced toes, Mitten deformi... |
OMIM:609638 |
| Acrokeratoelastoidosis Of Costa |
|
Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin plaqu... |
ORPHA:38 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... |
ORPHA:2897 |
| Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos... |
OMIM:603165 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
| Schopf-Schulz-Passarge Syndrome |
|
Poroma, Squamous cell carcinoma, Hyperkeratosis, Basal cell carcinoma, Palmoplantar keratoderma, ... |
OMIM:224750 |
| Dermatitis Herpetiformis |
|
Macule, Eczema, Pruritus, Erythema, Skin vesicle |
ORPHA:1656 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Ret... |
ORPHA:79397 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital nonbullous ichthyosifo... |
OMIM:604777 |
| Wells Syndrome |
|
Skin vesicle, Pruritus |
ORPHA:901 |
| Pemphigus Vulgaris |
|
Atypical scarring of skin, Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
| Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Papule |
ORPHA:494 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat... |
OMIM:173200 |
| Cole Disease |
|
Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Erythema, Hyperkeratosis, Ich... |
ORPHA:816 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital nonbullous ... |
OMIM:606545 |
| Bathing Suit Ichthyosis |
|
Parakeratosis, Autoamputation of digits, Thickened skin, Erythroderma, Palmoplantar hyperkeratosi... |
ORPHA:100976 |
| Chromomycosis |
|
Erythematous macule, Pruritus, Hyperparakeratosis, Subcutaneous nodule, Verrucous papule, Hypopig... |
ORPHA:182 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
| Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hallux valgus, Hyperkeratosis, Osteolytic defects of the phalanges of the hand, Metatarsal fracture |
OMIM:615632 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Acne, Abnormality of the ha... |
ORPHA:3243 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Skin erosion, Parakeratosis, Erythema |
ORPHA:83453 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
| Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Numerous nevi, Epidermal hyperkeratosis, Hyperkeratosis, Multiple lentigi... |
OMIM:613707 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
| Hennekam-Beemer Syndrome |
|
Macule, Generalized hyperpigmentation, Camptodactyly of finger, Pruritus, Thickened skin, Erythem... |
ORPHA:2135 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
| Proteus Syndrome |
|
Epidermal nevus, Depigmentation/hyperpigmentation of skin, Hyperkeratosis, Multiple lipomas, Nevu... |
OMIM:176920 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
ORPHA:2200 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule |
ORPHA:257 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Plantar hyperkeratosis, Epidermal hyperkeratosis, Palmoplantar keratoderma, Palmoplantar erythema... |
OMIM:104100 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Arachnodactyly, Pruritus, Er... |
ORPHA:742 |
| Porphyria Variegata |
|
Proximal muscle weakness in upper limbs, Thickened skin, Localized skin lesion, Skin vesicle, Ski... |
ORPHA:79473 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Acantholysis, Palmoplantar hyperkeratosis, Clubbing of fingers, Palmoplantar scaling skin, Palmop... |
OMIM:605676 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Subcutaneous nodule |
OMIM:618339 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... |
OMIM:300918 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Skin rash, Eczema, Pruritus, Lymphoma, Skin ulcer, Skin vesicle, Papule |
ORPHA:2314 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ... |
OMIM:615508 |
| Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Palmoplantar keratoderma, Dry skin, Scle... |
ORPHA:384 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis, Cafe-au-lait spot |
OMIM:618625 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... |
OMIM:614457 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Short toe, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palm... |
OMIM:242100 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Erythroderma, Dry skin |
ORPHA:313 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis, Abnormal limb bone morphology, Freckling, Melanocytic nevus |
ORPHA:1573 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Palmar hyperlinearity, Congenital nonbullous ichthyosiform eryth... |
OMIM:615023 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform... |
OMIM:613576 |
| Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Annular cutaneous lesion, Dermal atrophy... |
ORPHA:163525 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis, Dermal atrophy |
OMIM:136300 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Pallor, Albinism |
ORPHA:2786 |
| Dyskeratosis Congenita |
|
Macule, Neoplasm of the pancreas, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Lymphoma... |
ORPHA:1775 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... |
OMIM:619208 |
| Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Abnormality of skin pigmentation, Hyperkeratosis, Ichthyosis, Dry skin |
OMIM:612379 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Scarring alopecia of scalp, Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular h... |
OMIM:308800 |
| Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Subcutaneous nodule, Hyperkeratosis, Verrucae, Papule |
ORPHA:530 |
| Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Hypergranulosis, Brea... |
ORPHA:79501 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Autoamputation of digits, Pruritus, Hyperparakeratosis, ... |
OMIM:614594 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Thickened skin, Diffuse palmoplantar... |
ORPHA:495 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Esophageal carcinoma, Follicular hyperkeratosis |
OMIM:148500 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Hidrotic Ectodermal Dysplasia |
|
Abnormal metacarpophalangeal joint morphology, Hypopigmentation of hair, Thickened skin, Palmopla... |
ORPHA:189 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion, Osteolytic defects of the phalanges of the hand |
OMIM:616298 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
| Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Astrocytoma, Toe syndactyly, Verrucous papule, Neoplasm of the central nervous ... |
ORPHA:2611 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Harlequin Ichthyosis |
|
Erythroderma, Hyperkeratosis, Congenital ichthyosiform erythroderma, Hand polydactyly, Foot polyd... |
ORPHA:457 |
| Ramon Syndrome |
|
Hyperkeratosis, Abnormality of retinal pigmentation, Gingival fibromatosis |
ORPHA:3019 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Basal cell c... |
ORPHA:79431 |
| Pachyonychia Congenita |
|
Epidermoid cyst, Steatocystoma multiplex, Linear arrays of macular hyperkeratoses in flexural are... |
ORPHA:2309 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Dermal atrophy, Scaling skin, H... |
ORPHA:454831 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Ichthyosis Prematurity Syndrome |
|
Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Hyperpigmentation of t... |
OMIM:608649 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Follicular hyperkeratosis |
ORPHA:300179 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Nevus, Pilomatrixoma, Embryonal rhabdomyosarcoma, Hyperkeratosis, Hammertoe, Multiple enchondroma... |
OMIM:620189 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Abnormality of the elbow, Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis... |
ORPHA:158673 |
| Noonan Syndrome 8 |
|
Eczema, Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa, Hyperpigmentation of the skin |
OMIM:615355 |
| Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma |
OMIM:609180 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... |
ORPHA:90186 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Hyperpigmentation of the skin |
ORPHA:75563 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Testicular seminoma, Acute leukemia, Ichthyosis |
ORPHA:281090 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
| Psoriasis 14, Pustular |
|
Pustule, Parakeratosis, Psoriasiform dermatitis, Erythema |
OMIM:614204 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Werner Syndrome |
|
Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcinoma, Sarcoma, Renal n... |
ORPHA:902 |
| Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Papule |
ORPHA:1334 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis, Joint contracture of the 5th finger, Arachnodactyly, Camptodactyly of finger |
ORPHA:1883 |
| Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Polydactyly, Pallor |
OMIM:613464 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin, Tapered finger |
OMIM:181600 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Palmar hyperlinearity, Orthokeratos... |
OMIM:617337 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Squamous cell carcinoma, Carcinoma, Palmoplantar keratoderma, Finger joint hypermo... |
OMIM:615225 |
| Spontaneous Periodic Hypothermia |
|
Skin rash, Pallor |
ORPHA:29822 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Dry skin, Ichthyosis |
OMIM:610768 |
| Lethal Acantholytic Erosive Disorder |
|
Acantholysis, 4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, 3-4 f... |
ORPHA:158687 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Chikungunya |
|
Macule, Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Erythema, Crusting erythe... |
ORPHA:324625 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Webbed neck |
OMIM:615279 |
| Milroy Disease |
|
Angiosarcoma, Hyperkeratosis, Erysipelas, Neoplasm of the skin |
ORPHA:79452 |
| Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Hyperkeratosis, Thin skin, Generalized hypopigmentation of hair, Irregular hyperpigmentat... |
ORPHA:238468 |
| Costello Syndrome |
|
Generalized hyperpigmentation, Redundant skin, Lack of skin elasticity, Ulnar deviation of finger... |
ORPHA:3071 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Pallor |
OMIM:613561 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Palmoplantar keratoderma, Squamous cell carcinoma of the skin |
ORPHA:85112 |
| Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
| Myopathic Ehlers-Danlos Syndrome |
|
Tapered finger, Elbow flexion contracture, Talipes equinovarus, Pallor, Congenital finger flexion... |
ORPHA:536516 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Hyperkeratosis, Skin ulcer |
ORPHA:1806 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal cupping of me... |
ORPHA:163966 |
| Mycetoma |
|
Recurrent bacterial skin infections, Abnormality of the hand, Subcutaneous nodule, Abnormal forea... |
ORPHA:2583 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Multiple cafe-au-lait spots, Follicular hyperkeratosis |
ORPHA:1809 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Laryngeal papilloma, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:616029 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:602400 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Pallor |
OMIM:615631 |
| Cutaneous Neuroendocrine Carcinoma |
|
Erythematous macule, Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Skin nodule, E... |
ORPHA:79140 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Skin vesicle, Limb undergrowth, Overlapping toe, Broad palm |
ORPHA:99843 |
| Kid Syndrome |
|
Equinus calcaneus, Scarring alopecia of scalp, Patellar hypoplasia, Squamous cell carcinoma, Recu... |
ORPHA:477 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Parakeratosis, Syndactyly... |
OMIM:308050 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Maculopapular exanthema, Skin rash, Hyperkeratosis, Erythematous plaque, Malar rash |
ORPHA:398124 |
| Leishmaniasis |
|
Papule, Pallor, Skin ulcer, Skin plaque |
ORPHA:507 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Pruritus, Ichthyosis, Orthokeratosis, Dry skin |
OMIM:607626 |
| Myelofibrosis |
|
Myeloproliferative disorder, Pallor, Purpura |
OMIM:254450 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Trichothiodystrophy 1, Photosensitive |
|
Squamous cell carcinoma, Hyperkeratosis, Basal cell carcinoma, Congenital nonbullous ichthyosifor... |
OMIM:601675 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Lymphoma, Skin rash, Pallor |
ORPHA:90036 |
| Xeroderma Pigmentosum |
|
Macule, Hypermelanotic macule, Thickened skin, Erythema, Hypopigmented skin patches, Melanocytic ... |
ORPHA:910 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
| Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Palmoplantar hype... |
OMIM:257980 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Aplasia/Hypoplasia of the skin, Recurrent skin infections, Camptodactyly of fi... |
ORPHA:2908 |
| Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Flexion contracture of finger, Hyperpigmentation in sun-exposed areas, ... |
ORPHA:69087 |
| Cardiofaciocutaneous Syndrome |
|
Generalized hyperpigmentation, Redundant skin, Abnormal morphology of ulna, Cavernous hemangioma,... |
ORPHA:1340 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Cowden Syndrome |
|
Subcutaneous nodule, Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, P... |
ORPHA:201 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Abnormality of the elbow, Hyperkeratosis, Short middle phalanx ... |
ORPHA:1005 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
| Toxic Epidermal Necrolysis |
|
Macule, Erythema, Skin ulcer, Acantholysis |
ORPHA:537 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
| Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Reticular hyperpigmentation, Hyperkeratosis, Palmoplantar kera... |
OMIM:604173 |
| Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Large hands, Hypermelanotic macule |
OMIM:246200 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Dry skin, Postaxial polydactyly |
OMIM:614576 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Dry skin, Atypical scarring of skin, Hyperkeratosis, Camptodactyly, Joint contracture of the hand |
OMIM:601701 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Erythema, Depigmentation/hy... |
ORPHA:79396 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
| Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Epidermoid cyst, Steatocystoma multiplex, Palmoplantar hyperkeratosis, ... |
OMIM:167210 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
| Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Pallor, Acute leukemia |
ORPHA:3226 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Pallor, Myelodysplasia |
ORPHA:75564 |
| Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
| Bethlem Myopathy |
|
Scapular winging, Interphalangeal joint contracture of finger, Camptodactyly of finger, Cigarette... |
ORPHA:610 |
| Primary Myelofibrosis |
|
Hematological neoplasm, Pallor, Ecchymosis, Hemangioma, Petechiae, Purpura |
ORPHA:824 |
| Stevens-Johnson Syndrome |
|
Macule, Erythema, Acantholysis |
ORPHA:36426 |
| Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Pallor, Paraganglioma |
ORPHA:94080 |
| Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
| Lymphatic Malformation 12 |
|
Hyperkeratosis |
OMIM:620014 |
| Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:613313 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Thickened skin, Melanocy... |
ORPHA:79434 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Thickened skin, Skin nodule, Palmoplantar hyperkeratosis, Tibial bowing, Short foo... |
OMIM:601812 |
| Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
| Incontinentia Pigmenti |
|
Maculopapular exanthema, Erythema, Abnormality of skin pigmentation, Hyperkeratosis, Pallor |
OMIM:308300 |
| Chronic Graft Versus Host Disease |
|
Thickened skin, Erythema, Intermittent generalized erythematous papular rash, Skin ulcer, Abnorma... |
ORPHA:99921 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Carcinoma, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmopla... |
OMIM:610644 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Cafe-au-lait spot, Pallor |
OMIM:615234 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Skin rash, Camptodactyly of finger, Abnormal hand morphology, Erythema, Absent... |
ORPHA:464 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Clubbing, Reticular hyperpigmentation, Generalized reticulate brown pigmentation |
OMIM:301220 |
| Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Hypoplasia of the radius, Pallor, Cafe-au-lait spot, Short 1st metacarpal |
OMIM:609053 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... |
OMIM:615726 |
| American Trypanosomiasis |
|
Localized skin lesion, Skin rash, Pallor |
ORPHA:3386 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Elbow flexion contracture, Squamous cell carcinoma, Hyperker... |
OMIM:148210 |
| Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Pallor |
OMIM:617023 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy, Scapular winging, Pallor |
OMIM:600462 |
| Netherton Syndrome |
|
Parakeratosis, Recurrent skin infections, Eczema, Congenital nonbullous ichthyosiform erythroderm... |
OMIM:256500 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Lymphoproliferative disorder, Pallor, Chronic lymphatic leukemia |
ORPHA:90033 |
| Congenital Heart Block |
|
Pallor |
ORPHA:60041 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Thickened skin, Ocular albinism, Melanocytic nevus, H... |
ORPHA:79430 |
| Noonan Syndrome 10 |
|
Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa, Cubitus valgus, Cafe-au-lait spot, Hyperpig... |
OMIM:616564 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myelodysplasia, Hematological neoplasm, Pruritus, Lymphoma, Chronic lymph... |
ORPHA:98849 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the ski... |
ORPHA:1896 |
| Rheumatic Fever |
|
Subcutaneous nodule, Erythema, Pallor, Macule |
ORPHA:3099 |
| Noonan Syndrome 2 |
|
Hyperkeratosis, Nevus, Palmoplantar cutis laxa, Cubitus valgus, Leukemia, Cafe-au-lait spot, Hype... |
OMIM:605275 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Freckling, Epidermal hyperkeratosis |
OMIM:137940 |
| Chime Syndrome |
|
Erythema, Aplasia/Hypoplasia of the phalanges of the hand, Skin ulcer, Clubbing of toes, Aplasia/... |
ORPHA:3474 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Pallor |
OMIM:605549 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Eczema, Hyperkeratosis, Deep palmar crease, Ichthyosis, Multiple lentigines, Webbed neck, Cubitus... |
OMIM:607721 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Numerous nevi, Atopic dermatitis, Cavernous hemangioma, ... |
OMIM:115150 |
| Pilomatrixoma |
|
Pruritus, Pilomatrixoma, Subcutaneous nodule, Neoplasm of head and neck |
ORPHA:91414 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, Seborrheic dermatitis, 2-4 toe syndactyly, Hyperparakeratosis, Multiple lipomas, Fo... |
ORPHA:276280 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Pustule, Hyperkeratosis, Skin rash |
OMIM:612852 |
| Senior-Loken Syndrome 8 |
|
Polydactyly, Pallor |
OMIM:616307 |
| Gaucher Disease, Perinatal Lethal |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Petechiae, Purpura |
OMIM:608013 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Talipes equinovarus, Follicular hyperkeratosis, Increased laxity of fingers |
OMIM:254090 |
| Leprosy |
|
Urticarial plaque, Hypopigmented macule, Autoamputation of digits, Skin nodule, Penetrating foot ... |
ORPHA:548 |
| Letterer-Siwe Disease |
|
Pallor, Seborrheic dermatitis |
OMIM:246400 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Pallor, ... |
ORPHA:276621 |
| Gardner Syndrome |
|
Brain neoplasm, Astrocytoma, Epidermoid cyst, Abnormality of skin pigmentation, Papillary thyroid... |
ORPHA:79665 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Scaling skin, Follicu... |
ORPHA:158668 |
| Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae |
OMIM:609242 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Subcutaneous nodule, Papule |
ORPHA:79280 |
| Myopathy, Mitochondrial, And Ataxia |
|
Multiple lipomas, Pigmentary retinopathy, Pallor |
OMIM:617675 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy, N... |
ORPHA:220295 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Eczema, Hyperkeratosis, Hypomelanotic macule |
OMIM:617052 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal... |
ORPHA:29072 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Complete duplication of thumb phalanx, L... |
OMIM:600901 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Multiple lineage myelodysplasia, Anemic pallor, Single lineage myelodyspl... |
ORPHA:86839 |
| Hereditary Spherocytosis |
|
Maculopapular exanthema, Pallor, Skin ulcer |
ORPHA:822 |
| Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Abnormality of skin pigmentation, Comple... |
OMIM:227650 |
| Waldenström Macroglobulinemia |
|
Purpura, Lymphoma, Pallor, Leukemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:33226 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Cafe-au-lait spot, Pallor |
ORPHA:300298 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema, Talipes equinovarus |
OMIM:118650 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Arachnodactyly, Excessive wrinkled skin, Thin skin, Follicular hyperkeratosis, Talipes equinovaru... |
OMIM:225400 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Epidermoid cyst, Adrenocortical carcinoma, Pilomatrixoma, ... |
ORPHA:247806 |
| Warburg-Cinotti Syndrome |
|
Erythema, Elbow flexion contracture, Osteolytic defects of the phalanges of the hand, Thin skin, ... |
OMIM:618175 |
| Fanconi Anemia, Complementation Group C |
|
Hypopigmented macule, Anemic pallor, Absent thumb, Absent radius, Short thumb, Complete duplicati... |
OMIM:227645 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Skin ulcer, Genu valgum, Pallor, Hyperpigmentation of the skin |
ORPHA:231226 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Myelodysplasia, Absent thumb, Short thumb, Partial duplication of thumb p... |
ORPHA:124 |
| Atypical Werner Syndrome |
|
Finger clinodactyly, Premature graying of hair, Neoplasm of the breast, Short palm, Renal neoplas... |
ORPHA:79474 |
| De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Hypermelanotic macule, Melanoma, Dermal atrophy, Bilateral coxa valga |
OMIM:278800 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Skin rash, Pallor |
ORPHA:331206 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Acantholysis, Skin ulcer, Atypical scarring of s... |
ORPHA:95455 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints, Eczema, Myelod... |
ORPHA:3260 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor |
OMIM:266200 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy, Cutaneous melanoma, Ac... |
OMIM:278720 |
| Diamond-Blackfan Anemia 1 |
|
Myelodysplasia, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of th... |
OMIM:105650 |
| Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Hypermelanotic macule, Melanoma, Squamous cell carcinoma of the skin, Dermal atrophy, Verrucous e... |
OMIM:278700 |
| Beta-Thalassemia Major |
|
Bowing of the long bones, Skin ulcer, Genu valgum, Pallor, Hyperpigmentation of the skin |
ORPHA:231214 |
| Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Astrocytoma, Epidermoid cyst, Soft tissue neoplasm, Brain neoplasm, Glio... |
ORPHA:99818 |
| Sepsis In Premature Infants |
|
Pallor, Petechiae, Purpura |
ORPHA:90051 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Atrophic scars, Talipes equinovarus, Follicular hyperkeratosis, Cutis laxa |
OMIM:614557 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheo... |
ORPHA:892 |
| Ramon Syndrome |
|
Hyperkeratosis, Pigmentary retinopathy, Gingival fibromatosis |
OMIM:266270 |
| Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
| Fucosidosis |
|
Generalized hyperkeratosis |
ORPHA:349 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial dupli... |
OMIM:227646 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Proteus Syndrome |
|
Central heterochromia, Neoplasm of the thymus, Subcutaneous nodule, Abnormal finger morphology, N... |
ORPHA:744 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Perianal erythema, Eczema, Recurrent skin infe... |
OMIM:308205 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Numerous nevi, Arachnodactyly, Sacral dimpl... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Numerous nevi, Arachnodactyly, Sacral dimpl... |
ORPHA:363958 |
| Pituitary Apoplexy |
|
Pituitary adenoma, Pallor |
ORPHA:95613 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Pigmentary retinopathy, Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Derm... |
OMIM:610651 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis |
OMIM:615510 |
| Fumarase Deficiency |
|
Cutaneous leiomyoma, Pallor |
OMIM:606812 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Premature graying of hair, Basal cell ... |
ORPHA:363618 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Short humerus, Short metacarpal, Short femur, Bowing of the long bones, Single transverse palmar ... |
OMIM:210710 |
| Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor |
ORPHA:20 |
| Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Neoplasm of the ske... |
ORPHA:653 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Mucoepithelial Dysplasia, Hereditary |
|
Chronic mucocutaneous candidiasis, Follicular hyperkeratosis |
OMIM:158310 |
| Reactive Arthritis |
|
Pustule, Hyperkeratosis |
ORPHA:29207 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy |
OMIM:278740 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Split hand, Blue irides, Hyperkeratosis, Split foot, Hand polydactyly, Thin skin,... |
OMIM:129900 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Restrictive Dermopathy |
|
Camptodactyly of finger, Epidermal hyperkeratosis, Scaling skin, Dermal atrophy, Webbed neck, Ski... |
ORPHA:1662 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Arachnodactyly, Abnormality of the hand, Dislocated wrist, Atypical scarring of skin, Talipes equ... |
ORPHA:536545 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
| Degcags Syndrome |
|
Syndactyly, Sacral dimple, Toe syndactyly, Hypopigmentation of hair, Short thumb, Preaxial hand p... |
OMIM:619488 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Abnormality of the hand, Eczema, Erythema, Hyperkeratosis, Papule, Ectro... |
ORPHA:2273 |
| Esophageal Atresia |
|
Clinodactyly, Barrett esophagus, Pallor |
ORPHA:1199 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Thickened skin, Abnormality of dermal melanosomes, Epidermal thickening, Clinod... |
ORPHA:73223 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Lymphatic Filariasis |
|
Hyperkeratosis, Hyperpigmentation of the skin |
ORPHA:2035 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
| Restrictive Dermopathy 1 |
|
Rocker bottom foot, Epidermal hyperkeratosis, Osteolytic defects of the distal phalanges of the h... |
OMIM:275210 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
| Fabry Disease |
|
Hyperkeratosis, Subcutaneous nodule, Abnormal femur morphology |
ORPHA:324 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Split hand, Blue irides, Hyperkeratosis, Split foot, Ectrodactyly, Generalized hy... |
OMIM:604292 |
| Leprechaunism |
|
Acanthosis nigricans, Thickened skin, Hyperkeratosis, Large hands |
ORPHA:508 |
| 6Q Terminal Deletion Syndrome |
|
Hallux valgus, Hyperkeratosis, Clinodactyly |
ORPHA:75857 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
| Dyskeratosis Congenita, Digenic |
|
Abnormal palmar dermatoglyphics, Abnormality of skin pigmentation, Melanoma, Basal cell carcinoma... |
OMIM:620040 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Overlapping toe, Arachnod... |
ORPHA:83617 |
| Histiocytoid Cardiomyopathy |
|
Pallor |
ORPHA:137675 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:465508 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal metaphysis morphology, Pallor, Bowing of the long bones |
ORPHA:667 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Myelodysplasia, Reticular hyperpigmentation, Premature graying of hair, Squamous cell carcinoma o... |
OMIM:127550 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Premature graying of hair, Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:620365 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pallor |
ORPHA:544482 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... |
ORPHA:309854 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis |
OMIM:222470 |
| Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Broad hallux, Avascular necrosis of the capital femoral epiphysis, Pilomatrixoma, Spinal cord tum... |
ORPHA:353281 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip... |
ORPHA:353277 |
| Tetrasomy 9P |
|
Sacral dimple, Pilomatrixoma, Small hand, Small toe, Talipes equinovarus, Clinodactyly of the 5th... |
ORPHA:3310 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
