Darier Disease |
|
Macule, Hypermelanotic macule, Acrokeratosis, Abnormal hair morphology, Pruritus, Plantar pits, P... |
ORPHA:218 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem... |
ORPHA:64745 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Darier-White Disease |
|
Ridged nail, Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Palmar pits, Plantar p... |
OMIM:124200 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Annular cut... |
ORPHA:555905 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
OMIM:616295 |
Dowling-Degos Disease |
|
Hypopigmented macule, Abnormal fingernail morphology, Epidermoid cyst, Hypermelanotic macule, Pru... |
ORPHA:79145 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Abnormality of the nail, Skin vesicle |
ORPHA:254478 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion |
ORPHA:2841 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyp... |
ORPHA:79151 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Pruritus, Skin erosion, Localized skin lesion, Erythematous papul... |
ORPHA:79410 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis, Skin plaque |
ORPHA:464318 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... |
ORPHA:79480 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ... |
OMIM:613102 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle |
ORPHA:158681 |
Acrokeratosis Verruciformis |
|
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous... |
OMIM:101900 |
Elastosis Perforans Serpiginosa |
|
Epidermal acanthosis, Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperker... |
ORPHA:79148 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule |
ORPHA:2337 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Abnormal fingernail morphology, Maculopap... |
ORPHA:79147 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp... |
OMIM:607903 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... |
OMIM:605676 |
Superficial Epidermolytic Ichthyosis |
|
Erythema, Palmoplantar keratoderma, Thin skin, Acantholysis |
ORPHA:455 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Aplasia cutis congenita, Absent fingernail, Skin erosion, Anonych... |
OMIM:609638 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Pruritus, Erythema, Periauricular skin pits, Abnormal epidermal ... |
ORPHA:79100 |
Warty Dyskeratoma |
|
Abnormal fingernail morphology, Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholy... |
ORPHA:69745 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat... |
OMIM:602400 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Absent facia... |
ORPHA:90368 |
Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule |
ORPHA:409 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Pruritus, Pustule, Eosi... |
ORPHA:293173 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Skin pla... |
ORPHA:2584 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Hypopigmented skin patches, Skin ulcer, Hyper... |
ORPHA:525 |
Pemphigoid Gestationis |
|
Pruritus, Skin vesicle |
ORPHA:63275 |
Dowling-Degos Disease 4 |
|
Pruritus, Epidermal acanthosis, Papule |
OMIM:615696 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos... |
ORPHA:505 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... |
OMIM:601214 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Acantholysis, Palmoplantar keratoderma, Spars... |
OMIM:615508 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule, Skin rash |
ORPHA:90000 |
Wells Syndrome |
|
Pruritus, Skin vesicle, Eosinophilia |
ORPHA:901 |
Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Curly hair, Numerous nevi, Epidermal hyperkeratosis, Low posterior hairli... |
OMIM:613707 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... |
ORPHA:87503 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin |
OMIM:617571 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Erythematous pap... |
ORPHA:90280 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Ulerythema Ophryogenesis |
|
Acne, Dry skin, Facial erythema, Erythematous papule, Dermal atrophy, Follicular hyperkeratosis, ... |
ORPHA:3406 |
Naxos Disease |
|
Sparse scalp hair, Curly hair, Abnormality of hair texture, Palmoplantar keratoderma, Woolly hair |
ORPHA:34217 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Dermatitis Herpetiformis |
|
Macule, Eczema, Pruritus, Erythema, Skin vesicle |
ORPHA:1656 |
Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos... |
OMIM:619208 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy |
OMIM:131850 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Skin erosion |
ORPHA:83453 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Skin plaque, Papule, Fine hair |
OMIM:101840 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ... |
ORPHA:530838 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin rash, Eczema, Eosinophilia, Abnormal hair morphology, Pruritus, Paronychia, Skin ulcer, Skin... |
ORPHA:2314 |
Peeling Skin Syndrome 3 |
|
Abnormal hair morphology, Erythema, White scaling skin, Pruritus |
OMIM:616265 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Dry skin, Palmoplantar keratode... |
ORPHA:2890 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... |
ORPHA:158687 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin vesicle, ... |
ORPHA:257 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... |
OMIM:615821 |
Pyoderma Gangrenosum |
|
Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule |
ORPHA:48104 |
Noonan Syndrome 8 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Curly hair, Eczema |
OMIM:615355 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Chilblain Lupus 1 |
|
Chilblains, Abnormality of the nail, Skin ulcer |
OMIM:610448 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express... |
OMIM:247100 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer, Erythroderma |
ORPHA:312 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair, Palmoplantar keratoderma |
OMIM:610476 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Erythematous... |
OMIM:607602 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Pruritus |
OMIM:616487 |
Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma |
OMIM:113800 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair |
OMIM:615279 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Hyperkeratosis, Pili torti |
ORPHA:1573 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Cafe-au-lait spot, Mul... |
OMIM:615280 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Follicular hyperkeratosis |
OMIM:618546 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Skin nodule, Epidermal acanthosis |
ORPHA:199267 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer |
ORPHA:231 |
Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Pruritus, Crusting erythematous d... |
ORPHA:742 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Eosinophilia, Pruritus, Onycholysis, Nail dystrophy, Scaling skin, Erythroderma |
OMIM:270300 |
Carvajal Syndrome |
|
Woolly hair, Patchy palmoplantar hyperkeratosis |
ORPHA:65282 |
Leopard Syndrome 2 |
|
Curly hair, Cafe-au-lait spot, Dry skin, Multiple lentigines |
OMIM:611554 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph... |
ORPHA:542592 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Palmoplantar scaling ... |
ORPHA:100976 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ort... |
OMIM:607936 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Honeycomb palmoplantar ... |
ORPHA:79395 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Eczematoid dermatitis, Dry skin |
OMIM:146700 |
Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplan... |
ORPHA:2199 |
Bazex Syndrome |
|
Parakeratosis, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, ... |
ORPHA:166113 |
Noonan Syndrome 5 |
|
Curly hair, Sparse eyebrow, Fine hair, Cafe-au-lait spot, Multiple lentigines, Small nail, Nevus,... |
OMIM:611553 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Epidermoid cyst, Sparse eyebrow, Palmoplan... |
OMIM:167210 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma |
OMIM:133200 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Seborrheic dermatitis |
OMIM:121270 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Basan Syndrome |
|
Epidermal acanthosis, Hypermelanotic macule, Palmoplantar keratoderma, Nail dystrophy, Milia |
OMIM:129200 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl... |
OMIM:618531 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Dry skin, Absent pubic hair, C... |
ORPHA:2269 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, Whit... |
OMIM:604777 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Dyskeratosis Congenita |
|
Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernai... |
ORPHA:1775 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokerat... |
OMIM:617525 |
Toxic Epidermal Necrolysis |
|
Macule, Erythema, Skin ulcer, Acantholysis |
ORPHA:537 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Skin rash, Pruritus, Erythema, Broad nail, Skin ulcer, Hyperkerat... |
ORPHA:1334 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Eryt... |
OMIM:612281 |
Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Papule |
ORPHA:2028 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Pruritus, Follicular hyperkeratosis, Erythroderma, Alopecia of scalp |
OMIM:608649 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... |
OMIM:194300 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail ... |
OMIM:242300 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, E... |
ORPHA:3243 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, P... |
OMIM:148700 |
Acral Peeling Skin Syndrome |
|
Macule, Eczema, Erythema, Scaling skin, Skin erosion, Papule, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Palmoplantar hyp... |
OMIM:300918 |
Acrokeratoelastoidosis Of Costa |
|
Yellow papule, Epidermal acanthosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin ... |
ORPHA:38 |
Ichthyosis With Confetti |
|
Pruritus, Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling skin, Erythroderma, Hypertric... |
OMIM:609165 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Chand Syndrome |
|
Curly hair, Commissural lip pit, Nail dysplasia |
OMIM:214350 |
Stevens-Johnson Syndrome |
|
Macule, Erythema, Acantholysis |
ORPHA:36426 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Atopic dermatitis, Coarse hair, Milia, Nevus, Sparse hair, Trichoepithelioma, Acne invers... |
OMIM:301845 |
Familial Keratoacanthoma |
|
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
Hennekam-Beemer Syndrome |
|
Macule, Pruritus, Subcutaneous nodule, Erythema, Skin vesicle, Papule |
ORPHA:2135 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm... |
OMIM:618535 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Epidermal acanthosis, Thin nail... |
OMIM:257980 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Low posterior hairline, Multiple lentigines, Sparse hair, Cafe-au-lait... |
OMIM:613224 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar... |
OMIM:604536 |
Porphyria Variegata |
|
Localized skin lesion, Skin vesicle, Skin erosion, Milia, Hypertrichosis |
ORPHA:79473 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis, Sk... |
OMIM:620148 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... |
OMIM:129500 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... |
ORPHA:1028 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma |
OMIM:615022 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin |
OMIM:129490 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis |
OMIM:610227 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin skin |
ORPHA:2500 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... |
ORPHA:163654 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Pustule, Erythema, Nail dystrophy |
OMIM:614204 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Eczema, Hyperkeratosis, Loose anagen hair, Long eyelashes, Multipl... |
OMIM:607721 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Pruritus, Hypopigmented skin patches,... |
ORPHA:330064 |
Lupus Erythematosus Tumidus |
|
Urticarial plaque, Deep dermal perivascular inflammatory infiltrate, Erythematous plaque, Annular... |
ORPHA:90283 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Numerous nevi, Slow-growing hair, Absent eyelashes, Atopic dermatitis... |
OMIM:115150 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis |
OMIM:613943 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Trichiasis, Acantholysis, Skin ulcer, Atypical s... |
ORPHA:95455 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Epidermal acanthosis, Sparse eyebrow, Prur... |
OMIM:607626 |
Noonan Syndrome 2 |
|
Curly hair, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Nevus, Palmoplantar cutis lax... |
OMIM:605275 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... |
ORPHA:90186 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ... |
ORPHA:113 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Netherton Syndrome |
|
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec... |
OMIM:256500 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair |
ORPHA:1883 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail, Palmoplantar hyperkeratosis |
OMIM:619209 |
Cole Disease |
|
Hypopigmented macule, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis,... |
OMIM:615522 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Cafe-au-lait spot, Hypopigmented skin patches, Capillary malformation |
ORPHA:457485 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fi... |
ORPHA:659 |
Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Hyperkeratosis, Palmoplantar cutis laxa, Cafe-au-lait spot |
OMIM:616564 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Dermal atrophy, Scaling skin |
ORPHA:454831 |
Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Erythema, Skin ulcer |
ORPHA:31112 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Redundant neck skin, Highly arched eyebrow, Low posterior hairline, Thick eyebrow, Ne... |
OMIM:617360 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis |
OMIM:615785 |
Noonan Syndrome 7 |
|
Curly hair, Numerous nevi, Low posterior hairline |
OMIM:613706 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
Cutaneous Mastocytoma |
|
Macule, Maculopapular exanthema, Hypermelanotic macule, Pruritus, Hyperpigmented papule, Skin nod... |
ORPHA:79455 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Erythema, Hyperkeratosis, Pa... |
OMIM:242100 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Blepharitis, Decreased LDL cholesterol concentration, Hy... |
OMIM:616834 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Smith-Kingsmore Syndrome |
|
Curly hair, Cafe-au-lait spot |
OMIM:616638 |
Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin, Erythema, Scaling skin |
ORPHA:90158 |
Chikungunya |
|
Macule, Skin rash, Maculopapular exanthema, Pruritus, Erythema nodosum, Crusting erythematous der... |
ORPHA:324625 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Dry skin, Palmoplantar keratoderma, Hypomelanotic macule, Nail d... |
OMIM:618373 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Dry skin |
OMIM:619745 |
Proteus Syndrome |
|
Hyperkeratosis, Epidermal nevus, Epidermal acanthosis, Nevus |
OMIM:176920 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Ptosis, Hypocholesterolemia |
OMIM:610539 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Fragile nails, Nail dystrophy, Small nail... |
OMIM:601675 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair, Palmoplantar keratoderma |
OMIM:611528 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Low ... |
OMIM:617506 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Epidermal acanthosis, Erythroderma |
OMIM:615023 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair |
OMIM:616559 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Palmoplan... |
ORPHA:2710 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Long eyelashes, Papule, Epidermal acanthosis |
OMIM:616069 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails... |
ORPHA:1882 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Annular cutaneous lesion, Dermal atrophy... |
ORPHA:163525 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum, Recurrent skin infections |
OMIM:616576 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, Trichoepithelioma, Cylindr... |
ORPHA:79493 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Erythema, Nai... |
OMIM:308300 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... |
ORPHA:978 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:148600 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Pruritus, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hair, T... |
OMIM:618268 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia |
OMIM:616029 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Alopecia, Erythema, Scaling skin |
ORPHA:90156 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema... |
ORPHA:1010 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Abnormality of the nail, Long... |
ORPHA:2963 |
Noonan Syndrome 4 |
|
Sparse eyebrow, Curly hair, High anterior hairline |
OMIM:610733 |
Reticular Dysgenesis |
|
Skin rash, Skin ulcer |
ORPHA:33355 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Leukocyte Adhesion Deficiency Type Ii |
|
Skin vesicle, Long eyelashes, Low anterior hairline, Broad eyebrow |
ORPHA:99843 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail |
OMIM:181600 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Skin ulcer |
ORPHA:217390 |
Squalene Synthase Deficiency |
|
Epicanthus, Increased circulating farnesol concentration, Decreased LDL cholesterol concentration... |
OMIM:618156 |
Chops Syndrome |
|
Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow |
OMIM:616368 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Cafe-au-lait spot, Trichorrhexis n... |
OMIM:222470 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P... |
OMIM:129400 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Skin ulcer, Ri... |
ORPHA:37 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Prolidase Deficiency |
|
Eczema, Crusting erythematous dermatitis, Skin ulcer, Low posterior hairline, Facial hirsutism, P... |
OMIM:170100 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Chand Syndrome |
|
Curly hair, Nail dysplasia, Skin erosion, Commissural lip pit, Dry skin |
ORPHA:1401 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Skin rash, Supernumerary nipple, Eosinophilia, Abnormal... |
ORPHA:464 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair, Dry skin |
OMIM:616943 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Redundant skin, Concave nail, Hypoplastic toenail... |
ORPHA:3071 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Weaver Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Thin nail, Redundant skin, Hypoplastic toenails, ... |
ORPHA:3447 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer |
ORPHA:229717 |
Papa Syndrome |
|
Pustule, Acne, Skin ulcer |
ORPHA:69126 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Pyoderma gangrenosum, Acne |
OMIM:604416 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma |
OMIM:609180 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Werner Syndrome |
|
Sparse scalp hair, Aplasia/Hypoplasia of the skin, Abnormal hair whorl, Lack of skin elasticity, ... |
ORPHA:902 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Skin rash, Hypopigmented skin patches, Skin ulcer |
ORPHA:47 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... |
OMIM:304110 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Flynn-Aird Syndrome |
|
Alopecia, Dermal atrophy, Skin ulcer |
ORPHA:2047 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Erythema, Hypopigmented skin patches, Palmoplantar hyperkeratosis, Skin ulcer, P... |
ORPHA:2907 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... |
OMIM:615225 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Abnormal epidermal morphology, Verrucous papule, Palmoplantar hyperkeratosi... |
ORPHA:79501 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Chronic mucocutaneous candidiasis, Coarse hair, Nail dystrophy, Nail dysp... |
OMIM:158310 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst... |
ORPHA:1657 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,... |
ORPHA:3353 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Sacral dimple, Low anterior hairline, Excessive wrinkled skin, Long eyelashes, Horizo... |
OMIM:619950 |
Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... |
OMIM:144650 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... |
OMIM:234050 |
Chronic Graft Versus Host Disease |
|
Alopecia, Erythema, Intermittent generalized erythematous papular rash, Skin ulcer, Onycholysis, ... |
ORPHA:99921 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Sulfite Oxidase Deficiency, Isolated |
|
Eczema, Fine hair |
OMIM:272300 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Folli... |
ORPHA:158668 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Distal Duplication 6P |
|
Abnormal hair quantity, Sacral dimple, Abnormal eyelash morphology, Fine hair, Dry skin |
ORPHA:1745 |
Potocki-Lupski Syndrome |
|
Downslanted palpebral fissures, Hypocholesterolemia |
OMIM:610883 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair, Hypocholesterolemia |
OMIM:618810 |
Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair |
ORPHA:1520 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Sacral dimple, Few c... |
OMIM:619503 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Low posterior hairl... |
ORPHA:1340 |
Ollier Disease |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:296 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Epidermal acanthosis, Hypereosinophilia, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, ... |
OMIM:617388 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Subcutaneous nodule, Skin ulcer |
ORPHA:2591 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... |
OMIM:219200 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Hyperkeratosis, Parakeratosis, Dry skin, Epidermal acanthosis |
OMIM:618527 |
Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela... |
OMIM:305100 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
Leishmaniasis |
|
Skin plaque, Skin ulcer, Pallor, Papule |
ORPHA:507 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Sacral dimple, Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
Neutrophilic Dermatosis, Acute Febrile |
|
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa |
OMIM:608068 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor... |
ORPHA:294023 |
Familial Multiple Nevi Flammei |
|
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule |
ORPHA:624 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hyperkeratosis with erythema, Coarse hair |
OMIM:118650 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... |
ORPHA:444077 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin skin, Nail dysplasia, Sparse ha... |
ORPHA:217346 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair |
OMIM:614940 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Palmar pits, Epidermal acanthosis |
OMIM:618267 |
Reynolds Syndrome |
|
Pruritus, Skin rash, Skin ulcer |
ORPHA:779 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Cutis laxa |
OMIM:309400 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Redundant neck skin, Thin nail, Concave nail, Nevus, Sparse hair, Fra... |
OMIM:218040 |
Leprosy |
|
Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skin nodule, Loss of eyelashes... |
ORPHA:548 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum, Chronic oral candidiasis |
OMIM:150550 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Polyarteritis Nodosa |
|
Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:767 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Pustule, Hyperkeratosis, Skin rash, Epidermal acanthosis |
OMIM:612852 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, Broad eyebrow |
OMIM:619244 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Papule |
ORPHA:556 |
Juvenile Dermatomyositis |
|
Alopecia, Skin rash, Pruritus, Erythema, Skin ulcer, Dry skin |
ORPHA:93672 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
Chronic Granulomatous Disease |
|
Macule, Eczema, Skin ulcer, Hypermelanotic macule |
ORPHA:379 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, A... |
ORPHA:542643 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
Takayasu Arteritis |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:3287 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Chime Syndrome |
|
Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:3474 |
Kaufman Oculocerebrofacial Syndrome |
|
Epicanthus, Telecanthus, Blepharophimosis, Sparse eyebrow, Upslanted palpebral fissure, Hypochole... |
OMIM:244450 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Hyperker... |
ORPHA:1896 |
Free Sialic Acid Storage Disease |
|
Skin ulcer |
ORPHA:834 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Erythematous plaque, Erythematous papule, Skin ulcer |
ORPHA:86884 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pyoderma gangrenosum, Recurrent skin infections, Eosinophilia |
ORPHA:486 |
Dermatomyositis |
|
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Pruritus,... |
ORPHA:221 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology, Nevus |
ORPHA:398189 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Subcutaneous nodule, Leukony... |
ORPHA:2526 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Zttk Syndrome |
|
Sparse eyebrow, Curly hair, Broad eyebrow |
OMIM:617140 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Microscopic Polyangiitis |
|
Erythema, Subcutaneous nodule, Skin rash, Skin ulcer |
ORPHA:727 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology |
ORPHA:3082 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cutis laxa, Fine hair, Excessive wrinkled skin, Thin skin, Sparse hair, Dermal translucency |
OMIM:614438 |
Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
Fusariosis |
|
Maculopapular exanthema, Paronychia, Subcutaneous nodule, Skin ulcer, Skin detachment, Papule |
ORPHA:228119 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Alopecia, Epidermal nevus, Epidermal acanthosis, Erythema, Hyperkeratosis, Small n... |
OMIM:308050 |
Tonne-Kalscheuer Syndrome |
|
Fine hair, Small nail, Concave nail |
OMIM:300978 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
Tangier Disease |
|
Ectropion, Hypertriglyceridemia, Nail dystrophy, Hypocholesterolemia |
ORPHA:31150 |
Ogden Syndrome |
|
Capillary malformation, Cutis laxa, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
Hereditary Spherocytosis |
|
Maculopapular exanthema, Pallor, Skin ulcer |
ORPHA:822 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Koolen-De Vries Syndrome |
|
Sacral dimple, Eczema, Abnormality of hair texture, Dry skin, Fair hair |
OMIM:610443 |
Dubowitz Syndrome |
|
Sparse scalp hair, Ptosis, Epicanthus, Telecanthus, Hypocholesterolemia, Blepharophimosis, Short ... |
OMIM:223370 |
Systemic Sclerosis |
|
Alopecia, Recurrent skin infections, Nail bed telangiectasia, Cutaneous sclerotic plaque, Pruritu... |
ORPHA:90291 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer, Nail dystrophy, Recurrent loss of toenails and fingernails |
OMIM:245660 |
Cryoglobulinemic Vasculitis |
|
Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Abnor... |
ORPHA:79474 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Aplastic/hypoplastic toenail, Fine hair, Thin skin, Dry skin, Aplasia/Hypop... |
ORPHA:1812 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Immunoglobulin A Vasculitis |
|
Macule, Skin rash, Pustule, Erythema, Skin ulcer, Purpura |
ORPHA:761 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Fine hair |
OMIM:616817 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Sparse hair, Synophrys, Low anterior hairline, Fine hair |
ORPHA:391408 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Low anterior hairline, Low posterior hairlin... |
OMIM:601358 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Thick hair, Redundant skin, Cutis laxa, Excessive wrinkled skin, Coarse hair... |
ORPHA:357074 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin |
OMIM:613990 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Dry skin, Abnormality of hair texture |
ORPHA:96169 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Ke... |
ORPHA:14 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Congenital exfoliative erythroderma, Ec... |
ORPHA:33364 |
Alg12-Cdg |
|
Hyponatremia, Epicanthus, Low posterior hairline, Recurrent hypoglycemia, Hypoalbuminemia, Hypoch... |
ORPHA:79324 |
Cushing Disease |
|
Sparse scalp hair, Striae distensae, Acne, Recurrent cutaneous fungal infections, Skin ulcer, Thi... |
ORPHA:96253 |
Pgm3-Cdg |
|
Recurrent skin infections, Eczema, Eosinophilia, Atopic dermatitis, Skin ulcer, Cutaneous abscess |
ORPHA:443811 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin |
OMIM:614099 |
Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Sacral dimple, Hypoplastic nipples, Hypertrichosis |
ORPHA:480880 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Cutis laxa, Thick eyebrow, Fine hair |
OMIM:614800 |
Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Macrocephaly/Autism Syndrome |
|
Coarse hair, Cutis laxa |
OMIM:605309 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Fine hair |
OMIM:619428 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Curly hair, Broad lateral eyebrow |
ORPHA:500150 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Blau Syndrome |
|
Erythema nodosum, Eczema, Skin ulcer, Intermittent generalized erythematous papular rash |
OMIM:186580 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Almond-shaped palpebral fissure, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Thin skin, Sparse hair, Der... |
OMIM:612199 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz... |
ORPHA:83617 |
Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair, Trichorrhexis nodosa |
OMIM:616395 |
Giant Cell Arteritis |
|
Alopecia, Skin ulcer |
ORPHA:397 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Fine hair |
OMIM:620250 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri... |
ORPHA:920 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Fetal Hydantoin Syndrome |
|
Coarse hair, Hypoplastic fingernail, Low posterior hairline |
ORPHA:1912 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Subungual hyperkeratosis, Alopecia, Absent eyebrow, Sparse scalp hair, Eczema, Recurrent skin inf... |
OMIM:308205 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait spots, Dry skin, Aplasia/Hypoplasia ... |
ORPHA:2637 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Nevus, Sparse hair |
OMIM:613451 |
Leukocyte Adhesion Deficiency, Type I |
|
Skin ulcer, Chronic mucocutaneous candidiasis |
OMIM:116920 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Paronychia, Acral ulceration |
OMIM:201300 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair, Dermal atrophy |
OMIM:608612 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Skin rash, Eczema, Erythema nodosum, Skin ulcer, Purpura |
OMIM:615688 |
Schimke Immunoosseous Dysplasia |
|
Macule, Coarse hair, Hypermelanotic macule, Fine hair |
OMIM:242900 |
Dubowitz Syndrome |
|
Sparse scalp hair, Sacral dimple, Abnormal fingernail morphology, Eczema, Hypoplastic toenails, L... |
ORPHA:235 |
Acrofacial Dysostosis, Catania Type |
|
Preauricular pit, Coarse hair, Abnormal hair pattern |
ORPHA:1786 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Pustule, Subcutaneous nodule, Skin ulcer, Papule |
ORPHA:68 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
Infantile Systemic Hyalinosis |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:2176 |
Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Synophrys, Low anterior hairline, Skin ulcer, Coarse hair, Dry sk... |
ORPHA:955 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Acral ulceration, Nail dystrophy, Nail dysplasia |
OMIM:256800 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism |
OMIM:617303 |
Diamond-Blackfan Anemia 21 |
|
Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Nevus |
OMIM:620072 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Dermal atrophy, Sparse h... |
ORPHA:2108 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Cutis laxa, Fine hair, Melanocytic nevus, Sparse hair |
OMIM:277590 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
Diffuse Cutaneous Systemic Sclerosis |
|
Skin ulcer |
ORPHA:220393 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Cafe-au-lait spot, Uncombable hair, Woolly hair, Dry skin... |
ORPHA:84064 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Preauricular skin tag, Mongolian blue spot, Dry hair, Low anterior hairline |
OMIM:618569 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair |
OMIM:614091 |
Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Opitz-Kaveggia Syndrome |
|
Skin tags, Sacral dimple, Facial wrinkling, Fine hair, Frontal upsweep of hair, Sparse hair |
OMIM:305450 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Dermal atrophy, Sparse hair, Dry ... |
OMIM:234100 |
Trisomy 20P |
|
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... |
ORPHA:261318 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Orthokeratotic hyperkeratosis, ... |
ORPHA:73223 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Parkes Weber Syndrome |
|
Erythematous plaque, Capillary malformation, Scaling skin, Skin ulcer |
ORPHA:90307 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Eczema, Skin ulcer, Petechiae, Purpura |
ORPHA:906 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hypoplastic nipples, Sparse hair, ... |
OMIM:280000 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair |
OMIM:236200 |
Dominant Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:231226 |
Catastrophic Antiphospholipid Syndrome |
|
Skin ulcer |
ORPHA:464343 |
Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
2P15P16.1 Microdeletion Syndrome |
|
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair |
ORPHA:261349 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
Blau Syndrome |
|
Skin rash, Erythema nodosum, Erythema, Skin ulcer, Dry skin, Papule |
ORPHA:90340 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
Granulomatosis With Polyangiitis |
|
Skin ulcer, Skin rash, Papule, Purpura |
ORPHA:900 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Lip pit, Coarse hair, Sparse hair, Dry skin, Milia |
ORPHA:2750 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
Mucopolysaccharidosis, Type Iiid |
|
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow |
OMIM:252940 |
Lateral Meningocele Syndrome |
|
Keloids, Coarse hair |
OMIM:130720 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture |
ORPHA:79351 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Preauricular skin tag, Fine hair |
OMIM:616202 |
Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow |
ORPHA:585 |
Beta-Thalassemia Major |
|
Pallor, Skin ulcer |
ORPHA:231214 |
Pseudoxanthoma Elasticum |
|
Civatte bodies, Yellow papule, Cutis laxa |
OMIM:264800 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair |
ORPHA:251028 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Striae distensae, Acne, Recurrent cutaneous fungal infections, Skin ulcer, Thi... |
ORPHA:99889 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Menkes Disease |
|
Hypopigmentation of hair, Atypical scarring of skin, Sparse hair, Woolly hair, Dry skin |
ORPHA:565 |
Primary Sjögren Syndrome |
|
Erythema nodosum, Skin ulcer, Dry skin, Lichenoid skin lesion, Purpura |
ORPHA:289390 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Coarse hair, Nail dysplasia |
OMIM:612394 |
Mucopolysaccharidosis, Type Vii |
|
Coarse hair, Thick eyebrow, Hirsutism |
OMIM:253220 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Localized skin lesion, Skin ulcer, Dry skin |
ORPHA:707 |
Oculocerebrorenal Syndrome Of Lowe |
|
Atypical scarring of skin, Sparse scalp hair, Skin ulcer, Fine hair |
ORPHA:534 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
Cockayne Syndrome B |
|
Dry hair, Abnormal hair morphology, Atypical scarring of skin, Dermal atrophy, Sparse hair, Dry skin |
OMIM:133540 |
Ogden Syndrome |
|
Redundant neck skin, Redundant skin, Eczema, Facial wrinkling, Sparse eyebrow, Fine hair, Cutis l... |
OMIM:300855 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Dermal translucency, Absent nipple, Redundant skin, Synophrys, Low anterior ha... |
OMIM:612289 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Oculodentodigital Dysplasia |
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Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Granulomatosis With Polyangiitis |
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Skin ulcer |
OMIM:608710 |
Marshall-Smith Syndrome |
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Brittle hair, Highly arched eyebrow, Synophrys, Melanocytic nevus, Sparse hair, Thick eyebrow, Hy... |
OMIM:602535 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
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Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis, Sparse hair, Dry ... |
OMIM:210710 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Cafe-au-lait spot |
OMIM:613563 |
Lysinuric Protein Intolerance |
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Sparse hair, Cutis laxa, Fine hair |
OMIM:222700 |
Smith-Lemli-Opitz Syndrome |
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Epicanthus, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholest... |
OMIM:270400 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr... |
OMIM:614748 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Craniolenticulosutural Dysplasia |
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Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
Autosomal Recessive Malignant Osteopetrosis |
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Pallor, Abnormality of hair texture |
ORPHA:667 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Penetrating foot ulcers |
ORPHA:99956 |
Cerebellar-Facial-Dental Syndrome |
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Sparse hair, Sparse eyebrow, Fine hair |
ORPHA:444072 |
Mucopolysaccharidosis Type 3 |
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Thick hair, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism |
ORPHA:581 |
Noonan Syndrome |
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Abnormal hair quantity, Coarse hair, Melanocytic nevus, Low posterior hairline |
ORPHA:648 |
Orofaciodigital Syndrome I |
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Sparse hair, Alopecia, Dry hair, Milia |
OMIM:311200 |
Adrenomyeloneuropathy |
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Frontal balding, Fine hair |
ORPHA:139399 |
Cockayne Syndrome A |
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Sparse hair, Dry hair, Dry skin, Atypical scarring of skin |
OMIM:216400 |
Occipital Horn Syndrome |
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Coarse hair, Pili torti, Redundant skin |
OMIM:304150 |
Simple Cryoglobulinemia |
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Localized skin lesion, Acral ulceration, Purpura |
ORPHA:91139 |
Cockayne Syndrome |
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Premature skin wrinkling, Dry hair, Malar rash, Fine hair |
ORPHA:191 |
Distal Deletion 12Q |
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Late onset atopic dermatitis, Small nail, Fine hair |
ORPHA:96149 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Brittle hair |
OMIM:616084 |
Mucolipidosis Ii Alpha/Beta |
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Sparse eyebrow, Brittle hair, Sparse hair |
OMIM:252500 |
Mucolipidosis Type Ii |
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Dry hair, White hair, Fine hair |
ORPHA:576 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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White hair, Fine hair |
ORPHA:935 |
Cranioectodermal Dysplasia 1 |
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Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair |
OMIM:218330 |
Focal Dermal Hypoplasia |
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Ridged nail, Brittle hair, Supernumerary nipple, Focal dermal aplasia/hypoplasia, Patchy alopecia... |
OMIM:305600 |
Occipital Horn Syndrome |
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Atypical scarring of skin, Keloids, Coarse hair, Thick hair |
ORPHA:198 |
Coffin-Siris Syndrome 1 |
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Sparse scalp hair, Dry hair, Sacral dimple, Hypoplastic fifth fingernail, Lumbosacral hirsutism, ... |
OMIM:135900 |
Vascular Ehlers-Danlos Syndrome |
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Macule, Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morphology, Subcu... |
ORPHA:286 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Ecchymosis, Skin ulcer |
ORPHA:2072 |
Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |
Coffin-Lowry Syndrome |
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Highly arched eyebrow, Cutis laxa, Hyperconvex fingernails, Coarse hair, Thick eyebrow |
OMIM:303600 |
Liver Disease, Severe Congenital |
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Dry hair, Eczema, Nail dystrophy, Blue nevus, Dermal translucency |
OMIM:619991 |
Noonan Syndrome 1 |
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Woolly hair, Cafe-au-lait spot, Dry skin, Low posterior hairline |
OMIM:163950 |
Leukocyte Adhesion Deficiency |
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Recurrent skin infections, Perianal abscess, Pyoderma gangrenosum, Nail dystrophy, Chronic oral c... |
ORPHA:2968 |
Split Cord Malformation |
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Tufted hairs, Skin dimple, Penetrating foot ulcers, Hypertrichosis |
ORPHA:573278 |
Cockayne Syndrome Type 3 |
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Premature graying of hair, Dry hair |
ORPHA:90324 |
Myhre Syndrome |
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Sparse hair, Thick eyebrow, Fine hair |
OMIM:139210 |
Woodhouse-Sakati Syndrome |
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Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
Melnick-Needles Syndrome |
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Coarse hair, Frontal hirsutism |
OMIM:309350 |
Neuroocular Syndrome |
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Sacral dimple, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distic... |
OMIM:619539 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acral ulceration |
OMIM:256810 |
Witteveen-Kolk Syndrome |
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Medial flaring of the eyebrow, Hyperconvex nail, Eczema, Fine hair, High anterior hairline, Fragi... |
OMIM:613406 |
Renpenning Syndrome 1 |
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Sparse hair, Brittle hair, Sparse lateral eyebrow |
OMIM:309500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
Alström Syndrome |
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Frontal balding, Hirsutism, Fine hair |
ORPHA:64 |