Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Abnormal skin morphology of the palm, Hyperkeratotic papule, Annular cutaneous lesion, Porokerato... |
ORPHA:737 |
Darier Disease |
|
Skin vesicle, Abnormality of skin pigmentation, Thickened skin, Pruritus, Plantar pits, Acrokerat... |
ORPHA:218 |
Congenital Panfollicular Nevus |
|
Pruritus, Hamartoma, Skin nodule, Verrucous papule, Hyperkeratosis |
ORPHA:139414 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Milia, Hyperkeratosis, Palmoplantar blistering |
OMIM:131800 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Facial erythema, Pruritis on hand, Palmoplantar erythema, Striae distensae, Skin vesicle, Urticar... |
ORPHA:64745 |
Dowling-Degos Disease |
|
Palmar pits, Progressive reticulate hyperpigmentation, Skin vesicle, Hyperkeratotic papule, Pruri... |
ORPHA:79145 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections, Papule |
OMIM:244850 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation, Papule, Neoplasm of the skin, Neoplasm, Hyperkeratosis |
ORPHA:315 |
Pemphigus Foliaceus |
|
Skin vesicle, Serpiginous cutaneous lesion, Erythroderma, Pruritus, Crusting erythematous dermati... |
ORPHA:79481 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Generalized hypopigmentation, Erythema migrans, Palmoplantar hyperkeratosis, Spotty... |
ORPHA:158681 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Irregular hyperpigmentation, Hyperkeratosis, Multiple cafe-au-lait spots, Papule |
ORPHA:1336 |
Porokeratosis Of Mibelli |
|
Porokeratosis, Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis |
ORPHA:735 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Mitten deformity, Milia, Skin vesicle, Hyperkeratotic papule, Pruritus, Localized skin lesion, Ke... |
ORPHA:79410 |
Acrokeratosis Verruciformis |
|
Verrucous papule, Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis |
OMIM:101900 |
Aquagenic Palmoplantar Keratoderma |
|
Palmoplantar hyperhidrosis, Abnormal phalangeal joint morphology of the hand, Excessive skin wrin... |
ORPHA:498359 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Skin erosion, Erythema, Acantholysis, Hyperkeratosis |
ORPHA:2841 |
Acquired Ichthyosis |
|
Lymphoma, Ichthyosis, Pruritus, Sarcoma, Multiple myeloma, Papule, Neoplasm, Hyperkeratosis, Eryt... |
ORPHA:454 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:617574 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... |
OMIM:613000 |
Keratosis, Focal Palmoplantar And Gingival |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
OMIM:148730 |
Lichen Planus Pemphigoides |
|
Hyperkeratosis, Skin vesicle, Hypopigmented streaks, Pruritus |
ORPHA:254478 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Subcutaneous nodule, Generalized hyperpigmentation |
ORPHA:2297 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation |
OMIM:615327 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Milia, Hypopigmentation of the skin, Pruritus, Atrophic scars, Palmoplantar hyperkeratosis, Skin ... |
ORPHA:89838 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Milia, Pruritus, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty h... |
ORPHA:79399 |
Verrucous Hemangioma |
|
Papilloma, Hyperkeratotic papule, Inflammatory abnormality of the skin, Hemangioma, Skin plaque |
ORPHA:464318 |
Ulerythema Ophryogenesis |
|
Facial erythema, Dermal atrophy, Hyperkeratotic papule, Contact dermatitis, Erythematous papule, ... |
ORPHA:3406 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Scalin... |
OMIM:617571 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Erythema, Congenital nonbullous ichthyosiform erythr... |
OMIM:617526 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis, Erythema |
OMIM:617525 |
Iga Pemphigus |
|
Skin vesicle, Annular cutaneous lesion, Neutrophilic infiltration of the skin, Cutaneous abscess,... |
ORPHA:555905 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... |
OMIM:615598 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Squamous cell carcinoma, Skin ulcer, Basal cell carcinoma, ... |
ORPHA:409 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Atrophic scars, Neurofibromas, Skin pit, Hypoplastic pilosebaceous units, ... |
ORPHA:79100 |
Anonychia With Flexural Pigmentation |
|
Abnormal skin morphology of the palm, Axillary and groin hyperpigmentation and hypopigmentation, ... |
ORPHA:69125 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Cutis laxa, Crusting erythematous dermatitis, Annular cutaneous lesion, Sk... |
ORPHA:79148 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Ichthyosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Autoa... |
ORPHA:79503 |
Superficial Epidermolytic Ichthyosis |
|
Thin skin, Ichthyosis, Erythema, Acantholysis, Palmoplantar keratoderma |
ORPHA:455 |
Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Dermal atrophy, Milia, Pruritus, Abnormality of the elbow, Atrophic scars, Abnormality of the wri... |
ORPHA:89843 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Tapered finger, Generalized hyperpigmentation |
ORPHA:2812 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Facial erythema, Camptodactyly of finger, Palmoplantar hyperkeratosis, Hyperkerato... |
OMIM:212360 |
Classic Mycosis Fungoides |
|
Lymphoma, Irregular hyperpigmentation, Pruritus, Skin rash, Skin ulcer, Eczema, Neoplasm of the s... |
ORPHA:2584 |
Chilblain Lupus |
|
Pruritis on hand, Malar rash, Finger swelling, Chronic myelomonocytic leukemia, Inflammatory abno... |
ORPHA:90280 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Atrophic scars, Pruritus |
OMIM:131850 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Congenital bullous ichthyosiform erythroderma, Skin ulcer, Hyperkeratosis, Conjunctiv... |
ORPHA:312 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Scaling skin, Palmoplantar keratoderma, Hyperkeratotic papule |
OMIM:146590 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... |
OMIM:615024 |
Bazex Syndrome |
|
Pruritus, Lung adenocarcinoma, Parakeratosis, Scaling skin, Neoplasm, Liposarcoma, Hyperkeratosis... |
ORPHA:166113 |
Erythrokeratodermia Variabilis |
|
Irregular hyperpigmentation, Tapered finger, Skin rash, Neoplasm of the skin, Macule, Erythema, B... |
ORPHA:317 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Follicular hyperkeratosis |
OMIM:613102 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Skin plaque, Punctate palmoplantar hyperkeratosis, Acantholysis, Skin-colored papu... |
ORPHA:79151 |
Peeling Skin Syndrome 5 |
|
Scaling skin, Hyperkeratosis |
OMIM:617115 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Papule, Skin plaque, Skin erosion, Hyperkeratosis |
OMIM:247100 |
Darier-White Disease |
|
Palmar pits, Plantar pits, Acrokeratosis, Acantholysis, Hypermelanotic macule, Pruritus, Subungua... |
OMIM:124200 |
Porokeratosis |
|
Dermal atrophy, Abnormality of skin pigmentation, Pruritus, Squamous cell carcinoma of the skin, ... |
ORPHA:79358 |
Pemphigoid Gestationis |
|
Skin vesicle, Pruritus |
ORPHA:63275 |
Familial Keratoacanthoma |
|
Papilloma, Adenoma sebaceum, Skin ulcer, Papule, Neoplasm, Subcutaneous nodule, Hyperkeratosis |
ORPHA:493 |
Psoriasis 2 |
|
Parakeratosis, Scaling skin, Hyperkeratosis, Psoriasiform dermatitis |
OMIM:602723 |
Epidermolytic Palmoplantar Keratoderma |
|
Camptodactyly, Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Clubbing, Diffuse palmoplan... |
ORPHA:2199 |
Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... |
OMIM:615517 |
Erythema Elevatum Diutinum |
|
Skin rash, Skin vesicle, Skin nodule |
ORPHA:90000 |
Pemphigus Erythematosus |
|
Malar rash, Localized skin lesion, Erythematous plaque, Focal dermal aplasia/hypoplasia, Hypopigm... |
ORPHA:79480 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Generalized ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyper... |
ORPHA:79395 |
Warty Dyskeratoma |
|
Neoplasm of the tongue, Localized skin lesion, Epidermal thickening, Acrokeratosis, Skin-colored ... |
ORPHA:69745 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:461 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Chronic furunculosis, Squamous cell carcinoma, Acne inversa, Recurrent cutaneou... |
OMIM:613736 |
Lichen Planopilaris |
|
Dermal atrophy, Skin ulcer, Papule, Hypopigmented skin patches, Neoplasm of the oral cavity, Hype... |
ORPHA:525 |
Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythemat... |
ORPHA:79147 |
Irida Syndrome |
|
Hyperkeratosis, Ichthyosis, Pallor |
ORPHA:209981 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus, Erythematous pl... |
OMIM:618531 |
Pyoderma Gangrenosum |
|
Skin vesicle, Myeloid leukemia, Myelodysplasia, Skin ulcer, Atrophic scars, Papule, Pustule |
ORPHA:48104 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker... |
OMIM:612281 |
Infantile Digital Fibromatosis |
|
Parakeratosis, Hyperkeratosis, Skin nodule |
ORPHA:199267 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... |
OMIM:145250 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... |
OMIM:620121 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Pruritus, Scaling skin, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Folli... |
OMIM:616295 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Ichthyosis, Orthokeratosis, Erythema, Hyperkeratosis, Hypergranulosis |
OMIM:613943 |
Peeling Skin Syndrome 4 |
|
Ichthyosis, Orthokeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:607936 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Ichthyosis, Squamous cell carcinoma, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratosis... |
OMIM:602540 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Scaling skin, Dry skin, Pruritus, Atopic dermatitis |
OMIM:618084 |
Dermatitis, Atopic |
|
Facial erythema, Ichthyosis, Eczema, Pallor, Dry skin, Recurrent skin infections, Pruritus, Atopi... |
OMIM:603165 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Mitten deformity, Clinodactyly of the 5th finger, Aplasia cutis congenita, Syndactyly, Widely spa... |
OMIM:609638 |
Pityriasis Rubra Pilaris |
|
Irregular hyperpigmentation, Thickened skin, Ichthyosis, Pruritus, Eczema, Papule, Pustule, Neopl... |
ORPHA:2897 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
Acrokeratoelastoidosis Of Costa |
|
Palmar hyperhidrosis, Hyperkeratotic papule, Orthokeratosis, Yellow papule, Palmoplantar hyperker... |
ORPHA:38 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Palmoplantar hyperkeratosis, Erythema |
OMIM:607602 |
Dermatitis Herpetiformis |
|
Skin vesicle, Eczema, Macule, Erythema, Pruritus |
ORPHA:1656 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Milia, Hyperkeratotic papule, Mixed hypo- and hyperpigmentation of the skin... |
ORPHA:79397 |
Skin Fragility-Woolly Hair Syndrome |
|
Acantholysis, Palmoplantar erythema, Palmoplantar scaling skin, Palmoplantar hyperkeratosis |
OMIM:607655 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Palmar hyperline... |
OMIM:604777 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent skin infections, Orthokeratosis, Psoriasiform dermatitis, Erythroderma, Acantholysis, P... |
OMIM:615508 |
Wells Syndrome |
|
Skin vesicle, Pruritus |
ORPHA:901 |
Pemphigus Vulgaris |
|
Acantholysis, Recurrent cutaneous abscess formation, Atypical scarring of skin |
ORPHA:704 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... |
OMIM:604117 |
Keratoderma Hereditarium Mutilans |
|
Ichthyosis, Papule, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Autoamputation of digits |
ORPHA:494 |
Sweet Syndrome |
|
Acute myeloid leukemia, Breast carcinoma, Skin vesicle, Pyoderma gangrenosum, Chronic lymphatic l... |
ORPHA:3243 |
Leopard Syndrome 3 |
|
Webbed neck, Numerous nevi, Multiple lentigines, Epidermal hyperkeratosis, Cubitus valgus, Few ca... |
OMIM:613707 |
Sjögren-Larsson Syndrome |
|
Ichthyosis, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Erythema, Hyperke... |
ORPHA:816 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Palmar hyperlinearity, Hyperkeratos... |
OMIM:606545 |
Chromomycosis |
|
Abnormality of the upper limb, Hyperkeratotic papule, Pruritus, Multiple cutaneous malignancies, ... |
ORPHA:182 |
Hypotrichosis 6 |
|
Pruritus, Follicular hyperkeratosis, Erythema |
OMIM:607903 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Erythematous plaque, Palmoplantar kerato... |
OMIM:173200 |
Bathing Suit Ichthyosis |
|
Thickened skin, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform eryt... |
ORPHA:100976 |
Cole Disease |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Hypopigmented macule, Palmo... |
OMIM:615522 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Pruritus, Skin erosion, Erythema |
ORPHA:83453 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... |
OMIM:601952 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ichthyosis, Pruritus, Parakeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma |
OMIM:615821 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Intermittent generalized erythematous papular rash, Annular cutaneous lesion, Psoriasiform lesion... |
ORPHA:284426 |
Proteus Syndrome |
|
Multiple lipomas, Epidermal nevus, Hemangioma, Depigmentation/hyperpigmentation of skin, Lipoma, ... |
OMIM:176920 |
Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Irregular hyperpigmentation, Abnormality of skin pigmentation, Thickened... |
ORPHA:2135 |
Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... |
ORPHA:254704 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma, Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
Focal Palmoplantar And Gingival Keratoderma |
|
Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperke... |
ORPHA:2200 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Porphyria Variegata |
|
Milia, Hypopigmentation of the skin, Thickened skin, Skin vesicle, Localized skin lesion, Hepatoc... |
ORPHA:79473 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Neuropathy, Hereditary Sensory, Type If |
|
Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Hallux valgus |
OMIM:615632 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Dermal atrophy, Skin vesicle, Aplasia/Hypoplasia of the skin, Papule |
ORPHA:257 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis, Dry skin |
OMIM:617066 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Epidermal hyperkeratosis, Plantar hyperkeratosis, Hyperpigmentation of the... |
OMIM:104100 |
Prolidase Deficiency |
|
Thin skin, Arachnodactyly, Pruritus, Crusting erythematous dermatitis, Skin ulcer, Abnormality of... |
ORPHA:742 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Ichthyosis, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:618546 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Parakeratosis, Hyperkeratosis, Subcutaneous nodule |
OMIM:618339 |
Olmsted Syndrome, X-Linked |
|
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta... |
OMIM:300918 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Lymphoma, Skin vesicle, Skin rash, Skin ulcer, Eczema, Papule, Pruritus |
ORPHA:2314 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Huriez Syndrome |
|
Sclerodactyly, Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma,... |
ORPHA:384 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Scaling skin, Erythema, Hyperkerato... |
OMIM:614457 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis, Cafe-au-lait spot |
OMIM:618625 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Short toe, Short finger, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoder... |
OMIM:242100 |
Lamellar Ichthyosis |
|
Lack of skin elasticity, Ichthyosis, Pruritus, Erythroderma, Hyperkeratosis, Dry skin |
ORPHA:313 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each ... |
OMIM:148700 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Pallor |
ORPHA:2786 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Congenital bullous ichthyosiform erythroderma, Syndactyly, Palmoplantar keratoderma, Follicular h... |
OMIM:613576 |
Flynn-Aird Syndrome |
|
Dermal atrophy, Hyperkeratosis |
OMIM:136300 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmar hyperlinearity, Erythrod... |
OMIM:615023 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
Dyskeratosis Congenita |
|
Lymphoma, Skin vesicle, Premature graying of hair, Neoplasm of the pancreas, Skin ulcer, Hypopigm... |
ORPHA:1775 |
Hypotrichosis Simplex Of The Scalp |
|
Pruritus, Parakeratosis, Scaling skin, Hyperkeratosis, Atopic dermatitis |
ORPHA:90368 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Ichthyosis, Cutis laxa, Eczema, Hyperkeratosis, Dry skin |
OMIM:612379 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Folliculitis, Scarring alopecia of scalp, Palmoplantar keratoderma, Follicular h... |
OMIM:308800 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Adenocarcinoma of the small intestine, Orthokeratosis, Esophageal neoplasm, Melanoma, Palmoplanta... |
ORPHA:79501 |
Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Perioral hyperkeratosis, Pa... |
OMIM:619208 |
Lipoid Proteinosis |
|
Verrucae, Thickened skin, Papule, Pustule, Subcutaneous nodule, Hyperkeratosis, Acne |
ORPHA:530 |
Rare Cutaneous Lupus Erythematosus |
|
Intermittent generalized erythematous papular rash, Crusting erythematous dermatitis, Scaling ski... |
ORPHA:535 |
Palmoplantar Keratoderma, Epidermolytic |
|
Palmar hyperkeratosis, Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Localized epidermolyt... |
OMIM:144200 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis, Freckling, Melanocytic nevus |
ORPHA:1573 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis |
OMIM:148600 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Facial erythema, Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Thic... |
ORPHA:495 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis, Esophageal carcinoma |
OMIM:148500 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Hyperkeratotic papule, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratos... |
ORPHA:189 |
Singleton-Merten Syndrome 2 |
|
Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
Linear Verrucous Nevus Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Short metacarpal, Toe syndactyly, Verrucous ... |
ORPHA:2611 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized ichthyosis, Cutis laxa, Scaling skin, Generalized hyperkeratosis, Dry skin |
ORPHA:2269 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Olmsted Syndrome 1 |
|
Pruritus, Orthokeratosis, Parakeratosis, Hyperparakeratosis, Subungual hyperkeratosis, Palmoplant... |
OMIM:614594 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Thickened skin, Squamous cell carcinoma of the skin, Ocular albinis... |
ORPHA:79431 |
Ramon Syndrome |
|
Hyperkeratosis, Gingival fibromatosis, Abnormality of retinal pigmentation |
ORPHA:3019 |
Harlequin Ichthyosis |
|
Ichthyosis, Foot polydactyly, Hand polydactyly, Erythroderma, Hyperkeratosis, Congenital ichthyos... |
ORPHA:457 |
Pachyonychia Congenita |
|
Epidermoid cyst, Palmoplantar hyperhidrosis, Cutaneous cyst, Steatocystoma multiplex, Palmar hype... |
ORPHA:2309 |
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 |
|
Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Parake... |
OMIM:242300 |
Ichthyosis Prematurity Syndrome |
|
Generalized ichthyosis, Erythroderma, Hyperpigmentation of the skin, Pruritus, Follicular hyperke... |
OMIM:608649 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Follicular hyperkeratosis |
ORPHA:300179 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Dermal atrophy, Thin skin, Milia, Abnormality of the elbow, Crusting erythematous dermatitis, Pal... |
ORPHA:158673 |
Noonan Syndrome 8 |
|
Webbed neck, Palmoplantar cutis laxa, Eczema, Hyperpigmentation of the skin, Hyperkeratosis |
OMIM:615355 |
Meige Disease |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Skin ulcer, Skin erosion, R... |
ORPHA:90186 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis, Dry skin |
OMIM:618527 |
X-Linked Sideroblastic Anemia |
|
Hyperpigmentation of the skin, Pallor |
ORPHA:75563 |
Pten Hamartoma Tumor Syndrome |
|
Papilloma, Breast carcinoma, Hyperkeratotic papule, Plantar pits, Thyroid carcinoma, Renal cell c... |
ORPHA:306498 |
Congenital Disorder Of Glycosylation, Type If |
|
Scaling skin, Hyperkeratosis, Dry skin, Erythroderma |
OMIM:609180 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Skin ulcer, Penetrating foot ulcers |
ORPHA:36386 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Testicular seminoma, Ichthyosis, Acute leukemia |
ORPHA:281090 |
Werner Syndrome |
|
Premature graying of hair, Skin ulcer, Melanoma, White forelock, Neoplasm, Cutaneous melanoma, Br... |
ORPHA:902 |
Psoriasis 14, Pustular |
|
Parakeratosis, Pustule, Psoriasiform dermatitis, Erythema |
OMIM:614204 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Palmoplantar keratoderma, Hyperkeratotic papule, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Hyperkeratosis, Joint contracture of the 5th finger, Arachnodactyly |
ORPHA:1883 |
Huriez Syndrome |
|
Tapered finger, Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin |
OMIM:181600 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Bone spicule pigmentation of the retina, Pallor |
OMIM:613464 |
Chikungunya |
|
Skin vesicle, Petechiae, Crusting erythematous dermatitis, Erythema nodosum, Skin rash, Depigment... |
ORPHA:324625 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Acne inversa, Eczema, Scarring alopecia of scalp, Palmar hyperlinearity, Subungua... |
OMIM:617337 |
Chronic Mucocutaneous Candidiasis |
|
Pruritus, Skin rash, Skin ulcer, Papule, Erythema, Hyperkeratosis |
ORPHA:1334 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Spontaneous Periodic Hypothermia |
|
Skin rash, Pallor |
ORPHA:29822 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Finger joint hypermobility, Squamous cell carcinoma, Carcinoma, Parakeratosis, Palmoplantar kerat... |
OMIM:615225 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Follicular hyperkeratosis, Dry skin |
ORPHA:486815 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the skin |
OMIM:610768 |
Lethal Acantholytic Erosive Disorder |
|
4-5 finger syndactyly, 2-3 finger syndactyly, Camptodactyly of toe, Clinodactyly of the 5th finge... |
ORPHA:158687 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Milroy Disease |
|
Hyperkeratosis, Angiosarcoma, Neoplasm of the skin, Erysipelas |
ORPHA:79452 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Webbed neck |
OMIM:615279 |
Hypohidrotic Ectodermal Dysplasia |
|
Thin skin, Irregular hyperpigmentation, Generalized hypopigmentation of hair, Eczema, Hyperkerato... |
ORPHA:238468 |
Costello Syndrome |
|
Papilloma, Lack of skin elasticity, Ulnar deviation of finger, Generalized hyperpigmentation, Red... |
ORPHA:3071 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Palmoplantar keratoderma, Squamous cell carcinoma of the skin |
ORPHA:85112 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Pallor |
OMIM:613561 |
Pilodental Dysplasia With Refractive Errors |
|
Follicular hyperkeratosis, Reticular hyperpigmentation |
OMIM:262020 |
Naxos Disease |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Subungual hyperkeratosis, Acantholysis, Palm... |
OMIM:601214 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital finger flexion contractures, Tapered finger, Joint contracture of the hand, Elbow flex... |
ORPHA:536516 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Abnormality of skin pigmentation, Skin ulcer |
ORPHA:1806 |
Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Cutaneous cyst, Abnormal fo... |
ORPHA:2583 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Multiple cafe-au-lait spots, Follicular hyperkeratosis |
ORPHA:1809 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Hyperkeratosis, Pruritus, Congenital ichthyosiform erythroderma |
OMIM:602400 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Follicular hyperkeratosis, Dry skin, Laryngeal papilloma, Palmoplantar hyperkeratosis |
OMIM:617388 |
Cutaneous Neuroendocrine Carcinoma |
|
Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo... |
ORPHA:79140 |
Rare Circulatory System Disease |
|
Abnormal hand morphology, Abnormality of the elbow, Abnormal finger morphology, Elbow flexion con... |
ORPHA:98028 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Pallor |
OMIM:615631 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616029 |
Leukocyte Adhesion Deficiency Type Ii |
|
Overlapping toe, Skin vesicle, Broad palm |
ORPHA:99843 |
Leishmaniasis |
|
Skin plaque, Skin ulcer, Papule, Pallor |
ORPHA:507 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Neonatal Lupus Erythematosus |
|
Malar rash, Skin rash, Parakeratosis, Erythematous plaque, Hyperkeratosis, Maculopapular exanthema |
ORPHA:398124 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Epidermal nevus, Finger syndactyly, Orthokeratosis, Aplasia of the distal phalanx of the 2nd fing... |
OMIM:308050 |
Myelofibrosis |
|
Pallor, Purpura, Myeloproliferative disorder |
OMIM:254450 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Lymphoma, Skin rash, Pallor |
ORPHA:90036 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Ichthyosis, Orthokeratosis, Parakeratosis, Pruritus, Dry skin |
OMIM:607626 |
Hemochromatosis Type 2 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:79230 |
Kid Syndrome |
|
Neoplasm of the tongue, Trichilemmoma, Recurrent bacterial skin infections, Recurrent cutaneous f... |
ORPHA:477 |
Xeroderma Pigmentosum |
|
Papilloma, Dermal atrophy, Thin skin, Thickened skin, Melanocytic nevus, Neoplasm of the eye, Mel... |
ORPHA:910 |
Odontoonychodermal Dysplasia |
|
Palmoplantar erythema, Hypergranulosis, Orthokeratosis, Palmoplantar hyperhidrosis, Palmoplantar ... |
OMIM:257980 |
Trichothiodystrophy 1, Photosensitive |
|
Squamous cell carcinoma, Basal cell carcinoma, Congenital nonbullous ichthyosiform erythroderma, ... |
OMIM:601675 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Milia, Hypopigmentation of the skin, Palmoplantar hyperkeratosis, Reticulated skin pigmentation, ... |
ORPHA:69087 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Milia, Abnormality of skin pigmentation, Short 4th metacarpal, Finger sy... |
ORPHA:2908 |
Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
Cowden Syndrome |
|
Fibroma, Melanocytic nevus, Neoplasm of the central nervous system, Melanoma, Neoplasm of the ski... |
ORPHA:201 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron |
OMIM:231100 |
Toxic Epidermal Necrolysis |
|
Acantholysis, Macule, Skin ulcer, Erythema |
ORPHA:537 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Ichthyosis, Finger syndactyly, Abnormality of the elbow, Synostosis of carpal bones, Clinodactyly... |
ORPHA:1005 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Cardiofaciocutaneous Syndrome |
|
Ichthyosis, Webbed neck, Deep palmar crease, Multiple lentigines, Generalized hyperpigmentation, ... |
ORPHA:1340 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Milia, Hypopigmentation of the skin, Squamous cell carcinoma of the skin, Atrophic scars, Aplasia... |
ORPHA:79396 |
Poikiloderma With Neutropenia |
|
Dermal atrophy, Skin rash, Plantar hyperkeratosis, Hyperkeratosis, Reticular hyperpigmentation, P... |
OMIM:604173 |
Donohue Syndrome |
|
Hypermelanotic macule, Hyperkeratosis, Large hands, Acanthosis nigricans |
OMIM:246200 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Dry skin, Postaxial polydactyly |
OMIM:614576 |
Arthrogryposis And Ectodermal Dysplasia |
|
Joint contracture of the hand, Camptodactyly, Atypical scarring of skin, Hyperkeratosis, Dry skin |
OMIM:601701 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Short palm, Abnormality of the calcaneus |
ORPHA:163966 |
Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
Pachyonychia Congenita 2 |
|
Epidermoid cyst, Folliculitis, Palmoplantar hyperhidrosis, Palmoplantar hyperkeratosis, Steatocys... |
OMIM:167210 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Acute leukemia, Myeloproliferative disorder |
ORPHA:3226 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Pallor, Myelodysplasia |
ORPHA:75564 |
Juvenile Idiopathic Arthritis |
|
Skin rash, Psoriasiform dermatitis, Thickened skin, Generalized hyperkeratosis |
ORPHA:92 |
Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis, Erythroderma |
OMIM:133190 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Thickened skin, Melanocytic nevus, Squamous cell carcinoma of the s... |
ORPHA:79434 |
Stevens-Johnson Syndrome |
|
Acantholysis, Macule, Erythema |
ORPHA:36426 |
Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased serum iron |
OMIM:613313 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
Evans Syndrome |
|
Petechiae, Pallor |
ORPHA:1959 |
Chronic Graft Versus Host Disease |
|
Skin vesicle, Abnormality of skin pigmentation, Thickened skin, Intermittent generalized erythema... |
ORPHA:99921 |
Primary Myelofibrosis |
|
Petechiae, Purpura, Pallor, Hemangioma, Ecchymosis, Hematological neoplasm |
ORPHA:824 |
Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Cigarette-paper sc... |
ORPHA:610 |
Incontinentia Pigmenti |
|
Abnormality of skin pigmentation, Pallor, Erythema, Hyperkeratosis, Maculopapular exanthema |
OMIM:308300 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Sclerodactyly, Palmoplantar hyperhidrosis, Carcinoma, Orthokeratotic hyperkeratosis, Laryngeal ca... |
OMIM:610644 |
Non-Functioning Paraganglioma |
|
Pallor, Paraganglioma of head and neck, Paraganglioma |
ORPHA:94080 |
Lymphatic Malformation 12 |
|
Hyperkeratosis |
OMIM:620014 |
Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:28378 |
American Trypanosomiasis |
|
Skin rash, Localized skin lesion, Pallor |
ORPHA:3386 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Cafe-au-lait spot, Short 1st metacarpal, Hypoplasia of the radius, Pallor, Short thumb |
OMIM:609053 |
Autoimmune Hemolytic Anemia |
|
Lymphoma, Pallor |
ORPHA:98375 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... |
ORPHA:79665 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Clubbing, Hyperkeratosis, Reticular hyperpigmentation, Generalized reticulate brown pigmentation |
OMIM:301220 |
Beta-Thalassemia |
|
Skin ulcer, Pallor |
ORPHA:848 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Irregular hyperpigmentation, Abnormality of skin pigmentation, Abnormal ... |
ORPHA:464 |
Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Palmar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosi... |
OMIM:615726 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Cafe-au-lait spot, Pallor |
OMIM:615234 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Ichthyosis, Squamous cell carcinoma, Elbow flexion contractu... |
OMIM:148210 |
Premature Aging Syndrome, Penttinen Type |
|
Dermal atrophy, Thin skin, Thickened skin, Keloids, Palmoplantar hyperkeratosis, Skin nodule, Fle... |
OMIM:601812 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Pallor |
OMIM:617023 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Lymphoproliferative disorder, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Pigmentary retinopathy, Pallor |
OMIM:600462 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Lymphoma, Acute myeloid leukemia, Myeloid leukemia, Chronic lymphatic leukemia, Chronic myelomono... |
ORPHA:98849 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Thickened skin, Melanocytic nevus, Squamous cell carcinoma of the s... |
ORPHA:79430 |
Noonan Syndrome 10 |
|
Cafe-au-lait spot, Palmoplantar cutis laxa, Webbed neck, Cubitus valgus, Hyperpigmentation of the... |
OMIM:616564 |
Netherton Syndrome |
|
Parakeratosis, Erythroderma, Congenital nonbullous ichthyosiform erythroderma |
OMIM:256500 |
Rheumatic Fever |
|
Macule, Subcutaneous nodule, Erythema, Pallor |
ORPHA:3099 |
Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Eec Syndrome |
|
Lymphoma, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Generalized hypopigmentation, Toe s... |
ORPHA:1896 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Noonan Syndrome 2 |
|
Cafe-au-lait spot, Palmoplantar cutis laxa, Cubitus valgus, Hyperpigmentation of the skin, Hyperk... |
OMIM:605275 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Freckling, Epidermal hyperkeratosis, Dermal translucency |
OMIM:137940 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Pallor |
OMIM:605549 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Chime Syndrome |
|
Ichthyosis, Skin ulcer, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplasi... |
ORPHA:3474 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Cafe-au-lait spot, Ichthyosis, Webbed neck, Deep palmar crease, Multiple lentigines, Eczema, Hema... |
OMIM:607721 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Multiple lipomas, Foot polydactyly, Hyperparakeratosis, Macrodactyly, 2-4 toe syn... |
ORPHA:276280 |
Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... |
ORPHA:247806 |
Cardiofaciocutaneous Syndrome 1 |
|
Ichthyosis, Webbed neck, Numerous nevi, Hyperextensibility of the finger joints, Deep palmar crea... |
OMIM:115150 |
Pilomatrixoma |
|
Pilomatrixoma, Pruritus, Subcutaneous nodule, Neoplasm of head and neck |
ORPHA:91414 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperkeratosis, Abnormality of skin pigmentation, Eczema |
OMIM:617052 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:766 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Skin rash, Hyperkeratosis, Pustule |
OMIM:612852 |
Gaucher Disease, Perinatal Lethal |
|
Ichthyosis, Petechiae, Purpura, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:608013 |
Senior-Loken Syndrome 8 |
|
Polydactyly, Pallor |
OMIM:616307 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Pallor |
OMIM:246400 |
Leprosy |
|
Urticarial plaque, Skin nodule, Acral ulceration, Hypopigmented macule, Penetrating foot ulcers, ... |
ORPHA:548 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis, Talipes equinovarus, Increased laxity of fingers |
OMIM:254090 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Pruritus, Scaling skin, Recurrent skin infections, Palmoplantar keratoderma, Follicular hyperkera... |
ORPHA:158668 |
Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae |
OMIM:609242 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Subcutaneous nodule, Papule |
ORPHA:79280 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor, Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromocytoma, Adrenal phe... |
ORPHA:276621 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
Myopathy, Mitochondrial, And Ataxia |
|
Multiple lipomas, Pigmentary retinopathy, Pallor |
OMIM:617675 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dermal atrophy, Squamous cell carcinoma of the skin, Skin rash, Basal cell carcinoma, Melanoma, N... |
ORPHA:220295 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Cafe-au-lait spot, Complete duplication of thumb phalanx, Absent radius, Anemic pal... |
OMIM:600901 |
Fumarase Deficiency |
|
Pallor, Cutaneous leiomyoma |
OMIM:606812 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Renal cell carcinoma, Retinal capillary hemangioma, Pallor, Arachnoid hemangiomatosis, Paragangli... |
ORPHA:29072 |
Refractory Anemia With Excess Blasts |
|
Single lineage myelodysplasia, Acute myeloid leukemia, Multiple lineage myelodysplasia, Anemic pa... |
ORPHA:86839 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Talipes equinovarus, Hyperkeratosis with erythema |
OMIM:118650 |
Hereditary Spherocytosis |
|
Maculopapular exanthema, Skin ulcer, Pallor |
ORPHA:822 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Squamous cell carcinoma of the skin, Iris transillumination defect,... |
ORPHA:79432 |
Autosomal Dominant Cerebellar Ataxia |
|
Hyperkeratosis, Pigmentary retinopathy, Erythema |
ORPHA:99 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Abnormality of skin pigmentation, Cafe-au-lait spot, Complete duplication of thumb ... |
OMIM:227650 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Thin skin, Palmoplantar cutis laxa, Arachnodactyly, Molluscoid pseudotumors, Follicular hyperkera... |
OMIM:225400 |
Waldenström Macroglobulinemia |
|
Lymphoma, Purpura, Pallor, Monoclonal immunoglobulin M proteinemia, Leukemia |
ORPHA:33226 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Anemic pallor, Rectal po... |
ORPHA:329971 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Cafe-au-lait spot, Pallor |
ORPHA:300298 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Cafe-au-lait spot, Complete duplication of thumb phalanx, Hypopigmented macule, Abs... |
OMIM:227645 |
Warburg-Cinotti Syndrome |
|
Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Thin skin, Elbow flex... |
OMIM:618175 |
Diamond-Blackfan Anemia 1 |
|
Triphalangeal thumb, Absent thumb, Webbed neck, Myelodysplasia, Hypoplasia of the radius, Pallor,... |
OMIM:105650 |
Beta-Thalassemia Intermedia |
|
Skin ulcer, Hepatocellular carcinoma, Pallor |
ORPHA:231222 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Patchy hypo- and hyperpigmentation, Premature gr... |
ORPHA:79474 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Skin rash, Pallor |
ORPHA:331206 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Hypopigmentation of the skin, Inflammatory abnormality of the skin, Skin rash, Skin ulcer, Acanth... |
ORPHA:95455 |
Blackfan-Diamond Anemia |
|
Triphalangeal thumb, Acute myeloid leukemia, Absent thumb, Abnormality of the upper limb, Abnorma... |
ORPHA:124 |
Turcot Syndrome With Polyposis |
|
Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,... |
ORPHA:99818 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelodysplasia, Inflammatory abnormality of the skin, Eczema, Skin nodule, Pallor, Clubbing, Papu... |
ORPHA:3260 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor |
OMIM:266200 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Dominant Beta-Thalassemia |
|
Hyperpigmentation of the skin, Skin ulcer, Hepatocellular carcinoma, Pallor |
ORPHA:231226 |
Xeroderma Pigmentosum, Complementation Group C |
|
Dermal atrophy, Hypopigmentation of the skin, Squamous cell carcinoma of the skin, Actinic kerato... |
OMIM:278720 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Xeroderma Pigmentosum, Complementation Group A |
|
Dermal atrophy, Squamous cell carcinoma of the skin, Melanoma, Verrucous epidermal nevus, Erythem... |
OMIM:278700 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Hypermelanotic macule, Dermal atrophy, Melanoma |
OMIM:278800 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Atrophic scars, Talipes equinovarus, Follicular hyperkeratosis, Cutis laxa |
OMIM:614557 |
Sepsis In Premature Infants |
|
Purpura, Petechiae, Pallor |
ORPHA:90051 |
Beta-Thalassemia Major |
|
Hyperpigmentation of the skin, Skin ulcer, Hepatocellular carcinoma, Pallor |
ORPHA:231214 |
Von Hippel-Lindau Disease |
|
Pancreatic endocrine tumor, Renal cell carcinoma, Neoplasm of the pancreas, Retinal capillary hem... |
ORPHA:892 |
Ramon Syndrome |
|
Hyperkeratosis, Gingival fibromatosis, Pigmentary retinopathy |
OMIM:266270 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Squamous cell carcinoma of the skin, Generalized hypopigmentation o... |
ORPHA:55 |
Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Absent thumb, Abnormality of skin pigmentation, Cafe-au-lait spot,... |
OMIM:227646 |
Fucosidosis |
|
Generalized hyperkeratosis |
ORPHA:349 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Proteus Syndrome |
|
Thickened skin, Melanocytic nevus, Neoplasm of the central nervous system, Hallux valgus, Retinal... |
ORPHA:744 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Perianal erythema, Ichthyosis follicularis, Eczema, Scaling skin, Postaxial hand polydactyly, Sub... |
OMIM:308205 |
Xeroderma Pigmentosum, Complementation Group B |
|
Dermal atrophy, Squamous cell carcinoma of the skin, Basal cell carcinoma, Freckling, Neoplasm, C... |
OMIM:610651 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Pituitary Apoplexy |
|
Pituitary adenoma, Pallor |
ORPHA:95613 |
Familial Multinodular Goiter |
|
Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Colorectal polyposis, Alveol... |
ORPHA:276399 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Multiple Endocrine Neoplasia Type 2 |
|
Parathyroid adenoma, Neoplasm of the liver, Pheochromocytoma, Pallor, Paraganglioma of head and n... |
ORPHA:653 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Squamous cell carcinoma of the skin, Premature graying of hair, Papillary renal cell carcinoma, P... |
ORPHA:363618 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Hypopigmentation of the skin, Ichthyosis, Cafe-au-lait spot, Numerous nevi, Hand m... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Hypopigmentation of the skin, Ichthyosis, Cafe-au-lait spot, Numerous nevi, Hand m... |
ORPHA:363958 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor |
ORPHA:20 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis |
OMIM:615510 |
Reactive Arthritis |
|
Pustule, Hyperkeratosis |
ORPHA:29207 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Mucoepithelial Dysplasia, Hereditary |
|
Follicular hyperkeratosis, Chronic mucocutaneous candidiasis |
OMIM:158310 |
Xeroderma Pigmentosum, Complementation Group E |
|
Dermal atrophy, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Thin skin, Generalized hypopigmentation, Fair hair, Toe syndactyly, Hand polydactyly, Split foot,... |
OMIM:129900 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Thin skin, Dislocated wrist, Abnormality of the hand, Arachnodactyly, Atypical scarring of skin, ... |
ORPHA:536545 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Dermal atrophy, Webbed neck, Dermal translucency, Epidermal hyperkeratos... |
ORPHA:1662 |
Esophageal Atresia |
|
Gastrointestinal carcinoma, Clinodactyly, Barrett esophagus, Pallor |
ORPHA:1199 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Ichthyosis, Eczema, Papule, Oligodactyly, Abnormality of the hand, Eryth... |
ORPHA:2273 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Clinodactyly of the 2nd finger, Thickened skin, Epidermal thickening, Orthokeratotic hyperkeratos... |
ORPHA:73223 |
Degcags Syndrome |
|
Sacral dimple, Polydactyly, Hypopigmentation of the skin, Abnormality of skin pigmentation, Preax... |
OMIM:619488 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Lymphatic Filariasis |
|
Hyperpigmentation of the skin, Hyperkeratosis |
ORPHA:2035 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Large hands, Short metacarpal, Elbow flexion contracture, Elbow dislocation, Single transverse pa... |
OMIM:210710 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Generalized hypopigmentation, Fair hair, Toe syndactyly, Split foot, Blue irides, Split hand, Ect... |
OMIM:604292 |
Leprechaunism |
|
Hyperkeratosis, Thickened skin, Large hands, Acanthosis nigricans |
ORPHA:508 |
Dyskeratosis Congenita, Digenic |
|
Abnormality of skin pigmentation, Abnormal palmar dermatoglyphics, Squamous cell carcinoma of the... |
OMIM:620040 |
6Q Terminal Deletion Syndrome |
|
Hyperkeratosis, Clinodactyly, Hallux valgus |
ORPHA:75857 |
Restrictive Dermopathy 1 |
|
Thin skin, Epidermal hyperkeratosis, Scaling skin, Osteolytic defects of the distal phalanges of ... |
OMIM:275210 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:465508 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Eczema, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Overlapping toe, ... |
ORPHA:83617 |
Histiocytoid Cardiomyopathy |
|
Pallor |
ORPHA:137675 |
Fabry Disease |
|
Hyperkeratosis, Subcutaneous nodule |
ORPHA:324 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Dermal atrophy, Squamous cell carcinoma of the skin, Premature graying of hair, Myelodysplasia, R... |
OMIM:127550 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor |
ORPHA:544482 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pallor |
ORPHA:667 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Increased total iron binding capacity, Hyperglycinemia, Abnormal blood inorganic cation concentra... |
ORPHA:309854 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Abnormality of iron homeostasis, Increased serum iron, Hypoalbuminemia |
OMIM:222470 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pilomatrixoma, Keloids, Abnormal proximal phalanx morphology of the hand, Spinal cord tumor, Meni... |
ORPHA:353281 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pilomatrixoma, Polydactyly, Deviation of the hallux, Keloids, Abnormal proximal phalanx morpholog... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pilomatrixoma, Polydactyly, Deviation of the hallux, Keloids, Abnormal proximal phalanx morpholog... |
ORPHA:353277 |
Tetrasomy 9P |
|
Pilomatrixoma, Sacral dimple, Small hand, Small toe, Clinodactyly of the 5th finger, Bilateral si... |
ORPHA:3310 |
Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |