| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis |
OMIM:610753 |
| Hypotrichosis 1 |
|
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:605389 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Macular degeneration, Reduced terminal:vellus ratio, Choriocapillaris atrophy, Subretinal deposit... |
OMIM:601553 |
| Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
| Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
| Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial eryth... |
OMIM:212360 |
| Erythrokeratodermia Variabilis |
|
Erythema, Alopecia, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkeratosis, Skin ... |
ORPHA:317 |
| Dissecting Cellulitis Of The Scalp |
|
Cellulitis, Abnormal hair morphology, Recurrent skin infections, Pruritus, Edema |
ORPHA:345 |
| Keratosis Palmoplantaris Striata Ii |
|
Abnormal hair morphology, Epidermal acanthosis, Palmoplantar keratoderma, Abnormality of the nail |
OMIM:612908 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis |
OMIM:617756 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse pubic hair, Sparse axillary hair, Pruritus, Sparse scalp hair |
ORPHA:505 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:203655 |
| Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
| Hypotrichosis Simplex Of The Scalp |
|
Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakerato... |
ORPHA:90368 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Sparse lateral eyebrow, Dry skin, Facial erythema, Follicular hyperkeratos... |
ORPHA:3406 |
| Bazex Syndrome |
|
Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Acanthosis nigricans, Hype... |
ORPHA:166113 |
| Classic Mycosis Fungoides |
|
Erythema, Alopecia, Eczematoid dermatitis, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, ... |
ORPHA:2584 |
| Bathing Suit Ichthyosis |
|
Thickened skin, Alopecia, Nail dystrophy, Multiple joint contractures, Ichthyosis, Parakeratosis,... |
ORPHA:100976 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc... |
ORPHA:2269 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Keloids, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse ... |
ORPHA:2890 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Dystrophic toenail, Failure to thrive, Abnormal fingernail morphology, Atrophic scars, Ridged nai... |
ORPHA:89838 |
| Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Hyperkeratosis |
ORPHA:69125 |
| Ichthyosis With Erythrokeratoderma |
|
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p... |
OMIM:620507 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol... |
ORPHA:2722 |
| Insulin-Resistance Syndrome Type A |
|
Generalized hirsutism, Hyperkeratosis |
ORPHA:2297 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia, Alopecia of scalp |
OMIM:260910 |
| Alopecia Areata 1 |
|
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Ichthyosis With Confetti |
|
Hypertrichosis, Ichthyosis, Decreased body weight, Hypoplastic nipples, Erythroderma, Palmoplanta... |
OMIM:609165 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Recurrent s... |
ORPHA:79503 |
| Phenylketonuria |
|
Eczematoid dermatitis, Fair hair, Dry skin, Self-mutilation, Scleroderma, Maternal hyperphenylala... |
OMIM:261600 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Reduced epidermal extracellular matrix protein 1 protein expression, Aggressive b... |
OMIM:247100 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Kerion Celsi |
|
Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab... |
ORPHA:499 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat... |
ORPHA:530838 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Peeling Skin Syndrome 3 |
|
Abnormal hair morphology, Erythema, White scaling skin, Pruritus |
OMIM:616265 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Parana Hard Skin Syndrome |
|
Generalized hirsutism, Thickened skin, Hyperkeratosis |
ORPHA:2812 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Palmoplantar keratoderma, Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hyperg... |
ORPHA:79395 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Alopecia, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chron... |
OMIM:618282 |
| Schopf-Schulz-Passarge Syndrome |
|
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ... |
OMIM:224750 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
| Centrifugal Lipodystrophy |
|
Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Absence of subcutaneous ... |
ORPHA:90156 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczematoid dermatitis, Failure to thrive, Hypertrichosis, Microcytic anemia, Dry skin, Ichthyosis... |
OMIM:612379 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Erythema, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar ... |
OMIM:607602 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Netherton Syndrome |
|
Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Failure to thrive, ... |
OMIM:256500 |
| Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ... |
ORPHA:189 |
| Idiopathic Localized Lipodystrophy |
|
Erythema, Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous... |
ORPHA:90158 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Candidiasis, Familial, 1 |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Omenn Syndrome |
|
Pneumonia, Thickened skin, Alopecia, Failure to thrive, Edema, Dry skin, Abnormal lymphocyte morp... |
ORPHA:39041 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyebrow, Folliculitis, Keratitis, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Spar... |
OMIM:308800 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Atrophic scars, Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
| Lamellar Ichthyosis |
|
Abnormality of the nail, Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Aplasia/Hyp... |
ORPHA:313 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp, Di... |
OMIM:617294 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Gonadotropin d... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Gonadotropin d... |
ORPHA:71526 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Sl... |
OMIM:618535 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| L-Ferritin Deficiency |
|
Alopecia, Restless legs, Decreased circulating ferritin concentration |
OMIM:615604 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Macul... |
ORPHA:79147 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Dry skin, Alopecia of scalp, Cryptorchidism, Low posterior hairline, A... |
ORPHA:2617 |
| Tooth Agenesis, Selective, 8 |
|
Dry skin, Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Plantar hyperkeratosis, Alopecia, Pruritus, Nail dystrophy |
OMIM:616487 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... |
ORPHA:248 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm... |
OMIM:604536 |
| Incontinentia Pigmenti |
|
Erythema, Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Alopecia, Breast apl... |
OMIM:308300 |
| Trichothiodystrophy 1, Photosensitive |
|
Small nail, Fine hair, Trichorrhexis nodosa, Dry skin, Tiger tail banding, Absence of subcutaneou... |
OMIM:601675 |
| Quinquaud Folliculitis Decalvans |
|
Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Scarrin... |
ORPHA:346 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyebrow, Increased circulating free fatty ... |
OMIM:610768 |
| Kid Syndrome |
|
Trichilemmoma, Posterior blepharitis, Psoriasiform dermatitis, Sparse eyelashes, Follicular hyper... |
ORPHA:477 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu... |
OMIM:617571 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... |
OMIM:117850 |
| Peeling Skin Syndrome 1 |
|
Nail dystrophy, Eosinophilia, Onycholysis, Erythroderma, Scaling skin, Brittle hair, Pruritus |
OMIM:270300 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Dry skin, Leukonychia, Angular cheilitis, Onycholysis, Epidermal acanthosis, Follicular hyperkera... |
OMIM:616295 |
| Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... |
ORPHA:3361 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Acquired Ichthyosis |
|
Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Hy... |
ORPHA:454 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para... |
OMIM:242300 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Cellulitis, Alopecia universalis, Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoi... |
OMIM:606367 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Woolly hair, Abnormal retinal morphology, Br... |
ORPHA:170 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Scaling skin, Epidermal aca... |
OMIM:607936 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyebrow, Orthokeratosis, Dry skin, Splenomegaly, Sclerosing cholangitis, Sparse ... |
OMIM:607626 |
| Parc Syndrome |
|
Absent eyelashes, Alopecia, Absent eyebrow |
OMIM:600331 |
| Sézary Syndrome |
|
Alopecia, Palmoplantar keratoderma, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Nail ... |
ORPHA:3162 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Failure to thrive, Hypohidrosis, Erythroderma, Pruritus, Abnormality of the nail |
ORPHA:79394 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Cellulitis, Eczematoid dermatitis, Skin ulcer, Abnormal hair morphology, Osteomyelitis, Skin rash... |
ORPHA:2314 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| Verrucous Hemangioma |
|
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin |
ORPHA:464318 |
| Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Cutaneous abscess, Hypertrichosis, Increased circulatin... |
ORPHA:101330 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Atrophic scars, Nail dystrophy, Abnormal toenail morphology, Scarring, Pruritus, Hyperkeratosis |
ORPHA:89843 |
| Incontinentia Pigmenti |
|
Erythema, Supernumerary nipple, Abnormal hair morphology, Abnormal toenail morphology, Hyperkerat... |
ORPHA:464 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Nail dystrophy, Palmar hyperkeratosis, Plantar hyperkeratosis, Pruritus, Hyperkeratosis |
ORPHA:79399 |
| Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatospl... |
ORPHA:169154 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Failure to thrive, Palmoplantar scaling skin,... |
OMIM:605676 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypohidrosis, Hy... |
ORPHA:1882 |
| Netherton Syndrome |
|
Sparse eyebrow, Eczematoid dermatitis, Fine hair, Dehydration, Abnormal hair morphology, Trichorr... |
ORPHA:634 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Eczematoid dermatitis, Failure to thrive, Hypertrichosis, Long eyelashes... |
OMIM:618362 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye... |
OMIM:602540 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Coarse hair, Ichthyosis, Sparse eyelashes, Patchy alopecia, Scarring alopecia of ... |
ORPHA:35173 |
| Moynahan Syndrome |
|
Cachexia, Alopecia, Sparse hair, Hyperkeratosis |
ORPHA:2574 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Camptodactyl... |
ORPHA:2251 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Olmsted Syndrome 2 |
|
Sparse hair, Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion con... |
OMIM:619208 |
| Prolidase Deficiency |
|
Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin, White f... |
ORPHA:742 |
| Dermoodontodysplasia |
|
Nail dysplasia, Trichodysplasia, Dry skin |
OMIM:125640 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Xerostomia, Eczematoid dermatitis, Failure to thrive, Breas... |
ORPHA:238468 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Alopecia, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Plantar h... |
ORPHA:79397 |
| Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal to... |
ORPHA:494 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair,... |
OMIM:618625 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Eczematoid dermatitis, Dry skin, Long eyelashes, Obesity, Elbow hypertrichosis, Aggressive behavi... |
OMIM:620191 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair |
OMIM:129490 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Hypohidrosis |
OMIM:615704 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Psoriasiform... |
OMIM:617237 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula... |
ORPHA:284426 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... |
OMIM:275400 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morphology, Sparse scalp ... |
ORPHA:1008 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
| Leopard Syndrome 3 |
|
Dry skin, Low posterior hairline, Curly hair, Hyperkeratosis, Epidermal hyperkeratosis |
OMIM:613707 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
| Hypotrichosis 6 |
|
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ... |
OMIM:607903 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Dry skin, Inguinal hernia, Ichthyosis, Scaling skin, Joint contracture, Hyperkeratosis,... |
OMIM:614457 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Fine hair, Abnormal fingernail morphology, Abnormal dental enamel morphology, Dry skin, Hypoplast... |
ORPHA:1028 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Generalized hypotrichosis, Sparse eyebrow, Palmoplantar keratoderma, Absent hair, Trichorrhexis n... |
ORPHA:1010 |
| Dermoodontodysplasia |
|
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Dry skin, Trichodysplasia, Sparse scal... |
ORPHA:1660 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Abnormal hair morphology, Erythema, Scarring alopecia of scalp, Pustule |
ORPHA:222 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Abnormal hair whorl, Dry skin, Nail dystrophy, Hirsutism, Low posterior ... |
OMIM:300860 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
High anterior hairline, Dry skin, Attention deficit hyperactivity disorder, Medial flaring of the... |
OMIM:617364 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Alopecia universalis, Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Failure to thrive... |
ORPHA:158668 |
| Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Chilblains, Scaling skin, Thrombocytopenia, Flexion contracture |
OMIM:612952 |
| Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Dry skin, Ichthyosis, Eczematoid dermatitis |
OMIM:146700 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyebrow, Folliculitis, Keratitis, Palmoplantar keratoderma, Nail dystrophy, Spar... |
OMIM:612843 |
| Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp, Hyperkeratosis |
OMIM:136300 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eczematoid dermatitis, Hepatitis, Failure to thrive, Decreased FOXP3-expressing T cell ... |
OMIM:304790 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Dry skin, Tiger tail banding, Ichthyosis, Slow-growing hair, Brittle hair, Increased HbA2 hemoglo... |
OMIM:616943 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
| Roifman Syndrome |
|
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Hepatosp... |
ORPHA:353298 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Erythema, Abnormal epidermal morphology, Atrophic scars, Follicular hyperk... |
ORPHA:79100 |
| Odontoonychodermal Dysplasia |
|
Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Epidermal a... |
OMIM:257980 |
| Hatipoglu Immunodeficiency Syndrome |
|
Atopic dermatitis, Thickened skin, Fair hair, Eczematoid dermatitis, Premature graying of hair, R... |
OMIM:620331 |
| Immunodeficiency 7 |
|
Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ... |
OMIM:615387 |
| Cole Disease |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m... |
OMIM:615522 |
| Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Dry skin, Erythroderma, Scaling skin, Flexion contracture, Hyperkeratosis |
OMIM:609180 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Obesity, Hirsutism |
OMIM:604931 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:615598 |
| Sjögren-Larsson Syndrome |
|
Erythema, Abnormal dental enamel morphology, Dry skin, Ichthyosis, Inflammatory abnormality of th... |
ORPHA:816 |
| Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Palmoplantar keratoderma, Edema, Orthokeratotic hyperkeratosis, Excessive skin... |
ORPHA:498359 |
| Roifman Syndrome |
|
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Splenome... |
OMIM:616651 |
| Dermatitis, Atopic |
|
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Dry skin, Pallor, Ichthyos... |
OMIM:603165 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Palmoplantar keratoderma, Dry skin, Alopecia of scalp, Nail dystrophy, Multinodular goi... |
OMIM:618373 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Elbow flexion contracture, Dry skin, Hypocholesterolemia, Failure to th... |
OMIM:618156 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... |
OMIM:613573 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Chronic... |
OMIM:158310 |
| Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Alopecia, Eczematoid dermatitis, Long eyelashes, Curly eyelashes, Cryptorc... |
ORPHA:3051 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... |
ORPHA:3363 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Generalized icht... |
OMIM:612281 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery... |
OMIM:104100 |
| Lipoid Proteinosis |
|
Thickened skin, Alopecia of scalp, Pustule, Scarring, Hyperkeratosis, Dysphagia, Acne |
ORPHA:530 |
| Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair |
OMIM:158000 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Peeling Skin Syndrome 5 |
|
Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:617115 |
| Acrodermatitis Enteropathica |
|
Erythema, Alopecia, Ridged fingernail, Blepharitis, Skin ulcer, Failure to thrive, Abnormal eyebr... |
ORPHA:37 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis |
OMIM:617574 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Polyphagia, Childhood-onset truncal obesity, Acanthosis nigricans, Hypertriglyceridemia,... |
ORPHA:71529 |
| X-Linked Agammaglobulinemia |
|
Cellulitis, Alopecia, Recurrent pneumonia, Hepatitis, Conjunctivitis, Skin ulcer, Failure to thri... |
ORPHA:47 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| Omenn Syndrome |
|
Pneumonia, Thickened skin, Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, E... |
OMIM:603554 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Woolly hair, Paraker... |
OMIM:615821 |
| Bachmann-Bupp Syndrome |
|
Small nail, Dry skin, Large for gestational age, Hyperbilirubinemia, Cryptorchidism, Sparse eyela... |
OMIM:619075 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Weight loss, Hyperhidrosis |
ORPHA:86893 |
| Lichen Planopilaris |
|
Alopecia, Hepatitis, Skin ulcer, Abnormal fingernail morphology, Onycholysis, Pruritus, Hyperkera... |
ORPHA:525 |
| Recessive X-Linked Ichthyosis |
|
Dry skin, Ichthyosis, Cryptorchidism, Attention deficit hyperactivity disorder, Hyperkeratosis |
ORPHA:461 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Abnormal hair morphology, Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory i... |
OMIM:618531 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... |
OMIM:613000 |
| Olmsted Syndrome 1 |
|
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... |
OMIM:614594 |
| Mal De Meleda |
|
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal peri... |
ORPHA:87503 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Multiple joint contractures, Cryptorchidism, Follicular hyperkeratosis, Overweight, Mil... |
ORPHA:486815 |
| Acral Peeling Skin Syndrome |
|
Erythema, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin |
ORPHA:263534 |
| Rhizomelic Chondrodysplasia Punctata |
|
Dry skin, Alopecia, Ichthyosis, Sparse body hair |
ORPHA:177 |
| Porphyria Cutanea Tarda |
|
Alopecia, Onycholysis, Reduced uroporphyrinogen decarboxylase activity, Facial hypertrichosis |
OMIM:176100 |
| Distal Duplication 6P |
|
Fine hair, Dry skin, Hernia, Abnormal hair quantity, Abnormal eyelash morphology |
ORPHA:1745 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Cutaneous abscess, Eczematoid dermatitis,... |
OMIM:618131 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Blepharitis, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyela... |
OMIM:602400 |
| Rapp-Hodgkin Syndrome |
|
Sparse hair, Sparse eyebrow, Palmoplantar keratoderma, Small nail, Decreased number of sweat glan... |
OMIM:129400 |
| Hypotrichosis 12 |
|
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... |
OMIM:615885 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Congenital ichthyosiform erythroderma, ... |
OMIM:242100 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis, Hyperkeratosis |
OMIM:615028 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Dystrophic toenail, Decreased number of sweat glands, Interphalangeal j... |
ORPHA:69087 |
| Acute Generalized Exanthematous Pustulosis |
|
Facial edema, Pruritus, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosi... |
ORPHA:293173 |
| Epidermolytic Hyperkeratosis 1 |
|
Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis, Congenital bullous... |
OMIM:113800 |
| Radio-Tartaglia Syndrome |
|
Highly arched eyebrow, High anterior hairline, Small nail, Dry skin, Long eyelashes, Thick eyebro... |
OMIM:619312 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Abnormal denta... |
ORPHA:2325 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para... |
OMIM:300918 |
| Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Hypergranulosis, Abnormal fingernail morphology, Dif... |
ORPHA:2199 |
| Hypotrichosis 7 |
|
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... |
OMIM:604379 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Puncta... |
OMIM:617388 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, Hypopigmentation of hair |
ORPHA:411515 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Atypical scarring of skin, Palmoplantar keratoderma, Alopecia totalis, Nail dystrophy, Lack of sk... |
ORPHA:1366 |
| Ramon Syndrome |
|
Generalized hirsutism, Abnormal dental enamel morphology, Hyperkeratosis, Failure to thrive |
ORPHA:3019 |
| Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... |
OMIM:129500 |
| Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Alopecia of scalp, Follicular hyperkeratosis, Erythroderma, Generalized ichthy... |
OMIM:608649 |
| Basan Syndrome |
|
Epidermal acanthosis, Flexion contracture of digit, Palmoplantar keratoderma, Nail dystrophy |
OMIM:129200 |
| Noonan Syndrome 8 |
|
Eczematoid dermatitis, Failure to thrive, Large for gestational age, Pleural effusion, Cryptorchi... |
OMIM:615355 |
| Hair Defect With Photosensitivity And Impaired Intellectual Development |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:234030 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age, Hirsutism |
ORPHA:85288 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Nail pits, Ridged nail, Nail dystrophy |
OMIM:601705 |
| Peeling Skin Syndrome 6 |
|
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus |
OMIM:618084 |
| Cutaneous Mastocytoma |
|
Thickened skin, Erythema, Angioedema, Maculopapular exanthema, Scaling skin, Pruritus, Peau d'orange |
ORPHA:79455 |
| Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Failure to thrive, Fasciitis, ... |
ORPHA:39812 |
| Isaacs Syndrome |
|
Weight loss, Hyperhidrosis |
ORPHA:84142 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Enamel hypoplasia, Sparse hair, Congenital b... |
OMIM:613576 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hypercortisolism, ... |
OMIM:615830 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Dry skin, Attention deficit hyperactivity disorder, Motor stereotypy, Nail dystrophy |
OMIM:620502 |
| 14Q11.2 Microduplication Syndrome |
|
Highly arched eyebrow, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Acanthosis ... |
ORPHA:261229 |
| Alopecia-Intellectual Disability Syndrome |
|
Alopecia, Sparse body hair, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Flexion contracture, S... |
ORPHA:2850 |
| Joubert Syndrome 10 |
|
Obesity, Frequent temper tantrums, Decreased body weight, Hirsutism, Polyphagia, Polyhydramnios |
OMIM:300804 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Cellulitis, Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis... |
ORPHA:486 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
| Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ... |
ORPHA:573 |
| Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb... |
ORPHA:2985 |
| Fibrodysplasia Ossificans Progressiva |
|
Anemia, Alopecia, Failure to thrive |
ORPHA:337 |
| Psoriasis 2 |
|
Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis |
OMIM:602723 |
| Dowling-Degos Disease 4 |
|
Epidermal acanthosis, Pruritus, Hypergranulosis |
OMIM:615696 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Elevated circulating phytanic acid concentration, Ichthyosis, Severe failure to thrive,... |
OMIM:215100 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Cryptorchidism, Generalized hirsutism, Polyphagia... |
ORPHA:228402 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Myelitis, Lymphopenia, Leukopenia, Malar rash, Optic neuritis, Thrombocytopenia, Autoim... |
OMIM:301080 |
| Noonan Syndrome 13 |
|
Highly arched eyebrow, Head-banging, Hypertrichosis, Recurrent otitis media, Dry skin, Lymphedema... |
OMIM:619087 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... |
OMIM:618546 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Atopic dermatitis, Hypoalbuminemia, Ascites, Leukocytosis, Eosinophilia, Weigh... |
ORPHA:2070 |
| Wells Syndrome |
|
Cellulitis, Skin vesicle, Eosinophilia, Pruritus, Edema |
ORPHA:901 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypopigmentation of hair, Obesity |
ORPHA:177910 |
| Tangier Disease |
|
Decreased HDL cholesterol concentration, Dry skin, Nail dystrophy, Splenomegaly, Elevated circula... |
OMIM:205400 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Cellulitis, Thickened skin, Chylothorax, Erysipelas, Skin ulcer, Lymphedema, Abnormal hair morpho... |
ORPHA:2526 |
| Acute Myelomonocytic Leukemia |
|
Pallor, Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Trichiasis, Joint contracture of the hand, Atypical scarring of skin, Abnormal dental enamel morp... |
OMIM:601701 |
| Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Abnormal testis morphology, Apla... |
ORPHA:202 |
| Familial Melanoma |
|
Abnormal hair morphology, Dry skin, Neoplasm of the pancreas |
ORPHA:618 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Thin eyebrow, Eosinophilia |
OMIM:618092 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo... |
ORPHA:1809 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inv... |
OMIM:617337 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Alopecia, Palmoplantar keratoderma, Failure to thrive, Ichthyosis, Increased ser... |
OMIM:242150 |
| Eosinophilic Fasciitis |
|
Cellulitis, Abnormal eosinophil morphology, Fasciitis, Myositis, Muscular edema, Eosinophilia, We... |
ORPHA:3165 |
| Bacterial Toxic-Shock Syndrome |
|
Cellulitis, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Elevated circu... |
ORPHA:36234 |
| Dermatomyositis |
|
Cellulitis, Erythema, Abnormal eosinophil morphology, Dry skin, Weight loss, Periorbital edema, D... |
ORPHA:221 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinoph... |
OMIM:618523 |
| Obesity And Hypopigmentation |
|
Red hair, Obesity, Polyphagia |
OMIM:620195 |
| Costello Syndrome |
|
Abnormal hair morphology, Abnormal fingernail morphology, Abnormal dental enamel morphology, Fail... |
ORPHA:3071 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Adiposis Dolorosa |
|
Sparse pubic hair, Xerostomia, Dry skin, Obesity, Sparse axillary hair, Arthritis, Recurrent skin... |
ORPHA:36397 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Lymphedema, Palpebral edema, Reduced subcutaneous adipose tissue, Sparse eyelashes, Abs... |
OMIM:137940 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... |
OMIM:212050 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Recon Progeroid Syndrome |
|
Dry skin, Hyperconvex thumb nails, Hirsutism, Keratoconjunctivitis sicca, Thrombocytopenia, Scali... |
OMIM:620370 |
| Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... |
ORPHA:2889 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
| Hypotrichosis 5 |
|
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... |
OMIM:612841 |
| Huriez Syndrome |
|
Palmoplantar keratoderma, Small nail, Dry skin, Lack of skin elasticity, Sclerodactyly, Abnormali... |
ORPHA:384 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Pruritus, Scaling skin |
OMIM:105250 |
| Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Chronic myelomonocytic leuk... |
ORPHA:90280 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Maculopapular exanthema, Leukemia, Pruritus, Histiocytosis |
ORPHA:157991 |
| Noonan Syndrome 5 |
|
Sparse eyebrow, Small nail, Fine hair, Dry skin, Large for gestational age, Cryptorchidism, Curly... |
OMIM:611553 |
| Acrokeratosis Verruciformis Of Hopf |
|
Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Ep... |
ORPHA:79151 |
| Pseudopelade Of Brocq |
|
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Recurrent skin infections,... |
ORPHA:129 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis, Joint contracture |
OMIM:617066 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Palmoplantar keratoderma, Nail dystrophy, Anonychia, Enamel hypoplasia, Dysphagia, Epidermal acan... |
OMIM:616029 |
| Proteus Syndrome |
|
Cerebriform connective tissue nevus, Splenomegaly, Multiple lipomas, Lipoma, Epidermal acanthosis... |
OMIM:176920 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Dry skin, Cryptorchidism, Absent eyelashes, Absent eyebrow, Erythroderma, Follicular hyperkeratos... |
OMIM:308205 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Complex Regional Pain Syndrome |
|
Erythema, Dry skin, Abnormality of hair growth, Slow-growing nails, Edema of the upper limbs, Ped... |
ORPHA:83452 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Bilateral cryptorchidism, Ichthyosis, Erythroderma, Agitation |
OMIM:618840 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Cardiofaciocutaneous Syndrome |
|
Palmoplantar keratoderma, Fine hair, Lymphedema, Failure to thrive in infancy, Dry skin, Aplasia/... |
ORPHA:1340 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Lymphopenia, Interstitial pneumonitis, Thromboc... |
ORPHA:454831 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypertrichosis, Dry skin, Acanthosis nigricans, Onychauxis, Small for gestational age |
OMIM:262190 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Fine hair, Pili torti, Brittle hair, Hyperkeratosis, Sparse scalp hair |
ORPHA:1573 |
| Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,... |
OMIM:604117 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin, Pruritus |
OMIM:617920 |
| Pemphigus Foliaceus |
|
Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Skin vesicle, Eryth... |
ORPHA:79481 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Dry skin, Acanthosis nigricans, Sparse hair, Polycystic ovaries |
OMIM:268020 |
| Pachyonychia Congenita |
|
Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Failure to thrive, Onychogrypos... |
ORPHA:2309 |
| Darier Disease |
|
Thickened skin, Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyperkeratotic frag... |
ORPHA:218 |
| Atelis Syndrome 1 |
|
Eczematoid dermatitis, Dry skin, Leukopenia, Glue ear, Attention deficit hyperactivity disorder, ... |
OMIM:620184 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Hyperkeratotic papule, Atypical scarring of skin, Keloids, Small nail, Abnormal fingernail morpho... |
ORPHA:79410 |
| Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Eosinophilia, Ac... |
ORPHA:555905 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Orthokeratotic hyperkera... |
OMIM:148700 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Self-injurious behavior, Small nail, Recurrent otitis media, Dry skin, Failure to thrive in infan... |
ORPHA:261323 |
| Mandibuloacral Dysplasia |
|
Alopecia, Increased subcutaneous truncal adipose tissue, Increased circulating free fatty acid le... |
ORPHA:2457 |
| Idiopathic Trachyonychia |
|
Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Ichthyos... |
ORPHA:79153 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Alopecia, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusit... |
OMIM:616576 |
| Psoriasis 14, Pustular |
|
Erythema, Psoriasiform dermatitis, Leukocytosis, Nail dystrophy, Pustule, Parakeratosis, Oligoart... |
OMIM:614204 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Disseminated molluscum contagiosum, Colonic eosinop... |
OMIM:617638 |
| Peeling Skin Syndrome 2 |
|
Erythema, Abnormality of the nail, Scaling skin |
OMIM:609796 |
| Trichothiodystrophy |
|
Dry skin, Cryptorchidism, Neutropenia, Brittle hair, Split nail, Eczematoid dermatitis, Ridged na... |
ORPHA:33364 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:211390 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Decreased testicular size, Dry skin, Obesity, Cryptorchidism, Polycystic ovaries, Acanth... |
ORPHA:3085 |
| 19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Failure to thrive, Dry skin, Sparse or a... |
ORPHA:217346 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Brittle hair, Sparse h... |
ORPHA:1883 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Failure to thrive, Dry skin, Pancytopenia, Splenomegaly, Ele... |
OMIM:614576 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyebrow, Failure to thrive, Dry skin, Reduced subcutaneous adipose tissue, Inguinal hernia... |
OMIM:613026 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Angular ch... |
OMIM:613102 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Nail dystrophy, Patchy alopecia, Enamel hypoplasia, Plantar hyperkeratos... |
OMIM:226650 |
| Woolly Hair, Autosomal Dominant |
|
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... |
OMIM:194300 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Anorexia, Lymphed... |
ORPHA:2930 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Ovarian neoplasm |
ORPHA:50944 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Acanthocytosis, Parakeratosis, Eryt... |
OMIM:604777 |
| Man1B1-Cdg |
|
Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia, Cutis laxa, Truncal ... |
ORPHA:397941 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal... |
OMIM:620148 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Dry skin, Cryptorchidism, Hirsutism, Low anterior hairline, Broad eyebrow,... |
OMIM:619244 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Alopecia, Eczematoid dermatitis, Hyperammonemia, Keratoconjunctivitis, Weight lo... |
ORPHA:79242 |
| Leopard Syndrome 2 |
|
Dry skin, Curly hair |
OMIM:611554 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia, Failure to thrive, Dry skin, Ichthyosis, Congenital exfoliative erythroderma |
ORPHA:1954 |
| Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:2271 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Obesity, Thick eyebrow, Cryptorchidism, Polyphagia, Skin-picking, C... |
OMIM:615547 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Pruritus, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Small nail, Persistence of hemoglobin F, Pancytopenia, Cryptorchidism, Hernia, A... |
OMIM:617052 |
| Juvenile Dermatomyositis |
|
Erythema, Alopecia, Skin ulcer, Dry skin, Skin rash, Elevated circulating creatine kinase concent... |
ORPHA:93672 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullou... |
OMIM:617526 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... |
OMIM:614929 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L... |
ORPHA:169160 |
| Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly |
|
Onychogryposis of toenails, Dry skin, Sparse eyebrow |
OMIM:600906 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Poikiloderma With Neutropenia |
|
Sparse eyebrow, Recurrent pneumonia, Palmoplantar keratoderma, Sparse lateral eyebrow, Recurrent ... |
OMIM:604173 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Palmoplantar keratoderma, Orthokeratosis, Failure to thrive, Hypergranulosis, Ps... |
OMIM:615508 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism |
|
Alopecia, Flexion contracture, Generalized hypoplasia of dental enamel |
OMIM:203550 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Highly arched eyebrow, Sparse pubic hair, Sparse eyebrow, Elevated circulating ... |
OMIM:618419 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Anonychia With Flexural Pigmentation |
|
Dry skin, Anonychia |
OMIM:106750 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... |
OMIM:613953 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Failure to thrive, Facial wrinkling, Dry skin, Decreased adipose tissue around neck, Absence of s... |
OMIM:606721 |
| Alazami-Yuan Syndrome |
|
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Cryptorchidism, Low anterior hairline, Hirs... |
OMIM:617126 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Thickened skin, Arthritis |
ORPHA:2582 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis, Linear arrays of macular hyper... |
OMIM:601952 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... |
ORPHA:443811 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous |
OMIM:193230 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes |
OMIM:618275 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin, Increased body weight, Omphalocele, Increased body mass index, Anemia |
OMIM:614450 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Hyperaldosteronism, Striae dis... |
ORPHA:189427 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Ascites, Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Joint contracture of the hand, Congenital contracture, Eczematoid dermatit... |
ORPHA:352490 |
| Werner Syndrome |
|
Abnormal hair whorl, Chondrocalcinosis, Skin ulcer, Premature graying of hair, Slender build, Whi... |
ORPHA:902 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent nipple, Xerostomia, Sparse lateral eyebrow, Periorbital wrinkles, Sparse body hair, Dry sk... |
OMIM:614941 |
| 6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow |
ORPHA:171829 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia, Ichthyosis |
ORPHA:88621 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Trichiasis, Sparse eyebrow, Keratitis, Elbow flexion contracture, Corneal scarring, Nail dystroph... |
OMIM:148210 |
| Elastosis Perforans Serpiginosa |
|
Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
| Diffuse Cutaneous Mastocytosis |
|
Thickened skin, Abnormality of the spleen, Lymphocytosis, Erythroderma, Scaling skin, Pruritus, M... |
ORPHA:79456 |
| Koolen-De Vries Syndrome |
|
Small for gestational age, Eczematoid dermatitis, Fair hair, Failure to thrive, Dry skin, Cryptor... |
OMIM:610443 |
| Rabson-Mendenhall Syndrome |
|
Polydipsia, Hypertrichosis, Premature graying of hair, Dry skin, Reduced subcutaneous adipose tis... |
ORPHA:769 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Epidermal acant... |
OMIM:617525 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Fine hair, Supernumerary nipple, Abnormal dental enamel morphology, Dry skin, Inguinal hernia, Cr... |
ORPHA:1812 |
| Diencephalic Syndrome |
|
Cachexia, Hyperhidrosis, Decreased body weight |
ORPHA:1672 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Pituitary adenoma, Hepatitis, Failure to thrive, Dry skin, Macrocytic anemia, ... |
ORPHA:199299 |
| Donohue Syndrome |
|
Hypertrichosis, Ovarian cyst, Adipose tissue loss, Nail dysplasia, Severe failure to thrive, Acan... |
OMIM:246200 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... |
OMIM:243700 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Erythema, Recurrent otitis media, Dry skin, Hepatosplenomegaly, Reduced subcutaneous adipose tiss... |
OMIM:619503 |
| Cinca Syndrome |
|
Lymphedema, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Elevated circulating C-rea... |
OMIM:607115 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Osteomyelitis, Dry skin, Overfriendliness, Aggressive behavior, Hypertriglyceridemia, Chronic oti... |
OMIM:618010 |
| H Syndrome |
|
Alopecia, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Hepatosplenomegaly, Dec... |
ORPHA:168569 |
| Adult Syndrome |
|
Absent nipple, Fair hair, Eczematoid dermatitis, Breast hypoplasia, Dry skin, Alopecia of scalp, ... |
OMIM:103285 |
| Porphyria Cutanea Tarda, Type I |
|
Addictive alcohol use, Eczematoid dermatitis, Hypertrichosis |
OMIM:176090 |
| Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes |
OMIM:615896 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Generalized hirsutism, Acanthosis... |
ORPHA:363400 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Erythema, Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pu... |
ORPHA:139402 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Abnormal hair whorl, Neonatal hyperbilirubinemia, Lumbar hypertrichosis, Dry skin, Oligohydramnio... |
ORPHA:163956 |
| Koolen-De Vries Syndrome |
|
Abnormal dental enamel morphology, Dry skin, Cryptorchidism, Ichthyosis, Overfriendliness, Abnorm... |
ORPHA:96169 |
| Cebalid Syndrome |
|
Highly arched eyebrow, Polyphagia, Thick eyebrow, Congenital diaphragmatic hernia |
OMIM:618774 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Sparse hair, Hyperkeratosis, Fine hair |
ORPHA:1839 |
| 9P13 Microdeletion Syndrome |
|
Highly arched eyebrow, Umbilical hernia, Recurrent otitis media, Dry skin, Bruxism, Thick eyebrow... |
ORPHA:324313 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Erythema, Horizontal eyebrow, Chapped lip, Chronic monilial nail infection, Psoriasiform dermatit... |
ORPHA:294023 |
| Eec Syndrome |
|
Sparse eyebrow, Coarse hair, Blepharitis, Keratitis, Fine hair, Xerostomia, Abnormal dental ename... |
ORPHA:1896 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Obesity, Hyperbilirubinemia, Decreased gro... |
OMIM:609734 |
| Barth Syndrome |
|
Fair hair, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Cyclic neutropenia,... |
OMIM:302060 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perioral erythema, Failure to thrive, Decreased testicular size, Dry skin, Alopecia of scalp, Spl... |
OMIM:201100 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Onycholysis, Weight loss, Increased circul... |
OMIM:275000 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Lymphopenia, ... |
OMIM:602450 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Malar rash, Autoimmune hemolytic anemia, Splenomegaly, Petechiae, Elevated proportion ... |
OMIM:603909 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Failure to thrive, Curly hair |
OMIM:615279 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Lymphatic Malformation 4 |
|
Cellulitis, Toenail dysplasia, Lymphedema, Hydrocele testis, Hyperkeratosis, Pedal edema |
OMIM:615907 |
| Luscan-Lumish Syndrome |
|
High anterior hairline, Recurrent otitis media, Obesity, Polycystic ovaries, Hirsutism, Polyphagi... |
OMIM:616831 |
| Pressure-Induced Localized Lipoatrophy |
|
Erythema, Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous... |
ORPHA:90160 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Dry skin, Obesity, Thick eyebrow, Oligohydramnios, Decreased body weight, Stereotypical hand wrin... |
OMIM:619229 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Weight loss, Erythroderma, Congenital bullous i... |
ORPHA:312 |
| Ddost-Cdg |
|
Dry skin, Lipodystrophy, Failure to thrive |
ORPHA:300536 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Small pituitary gland, Limb joint contracture, Alopecia, Reduced subcutaneous adipose tissue |
OMIM:612079 |
| Adult Syndrome |
|
Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Fingernail ... |
ORPHA:978 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Psoriasiform lesion, E... |
OMIM:614700 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Eczematoid dermatitis, Failure to thrive, Long eyelashes, Large for gestationa... |
OMIM:607721 |
| Mpdu1-Cdg |
|
Eczematoid dermatitis, Decreased response to growth hormone stimulation test, Ichthyosis, Elevate... |
ORPHA:79323 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczematoid dermatitis |
ORPHA:2101 |
| Juvenile Temporal Arteritis |
|
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Alopecia, Thickened skin, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail mor... |
ORPHA:659 |
| Nestor-Guillermo Progeria Syndrome |
|
Alopecia, Sparse eyebrow, Failure to thrive, Dry skin, Nail dystrophy, Sparse eyelashes, Flexion ... |
OMIM:614008 |
| Cushing Disease |
|
Skin ulcer, Increased circulating cortisol level, Lymphopenia, Striae distensae, Dorsocervical fa... |
ORPHA:96253 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Generalized lipodystrophy, Decreased adipose tissue around neck, Loss of truncal subcut... |
OMIM:608612 |
| Agel Amyloidosis |
|
Sparse hair, Xerostomia, Dry skin, Blepharochalasis, Nail dystrophy, Abnormal spleen morphology, ... |
ORPHA:85448 |
| Johnson Neuroectodermal Syndrome |
|
Alopecia, Failure to thrive, Absent eyelashes, Hypohidrosis, Absent eyebrow, Sparse hair |
ORPHA:2316 |
| Immunodeficiency 32B |
|
Pneumonia, Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis,... |
OMIM:226990 |
| Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, O... |
ORPHA:31205 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Eczematoid dermatitis, Dry skin, Bruxism, Aggressive behavior, Neutropenia, Thin nail, Sparse hai... |
OMIM:617799 |
| Sheehan Syndrome |
|
Secondary growth hormone deficiency, Sparse pubic hair, Breast hypoplasia, Panhypopituitarism, Dr... |
ORPHA:91355 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Skin rash, Increased inflammatory response, Myositis, Eosinophilia, Myocarditis, Weight loss, Dys... |
ORPHA:183 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Erythema, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Failure to... |
OMIM:615816 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Histiocytosis, Skin rash |
ORPHA:157997 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Decreased proport... |
ORPHA:911 |
| Papillon-Lefèvre Syndrome |
|
Cigarette-paper scars, Periodontitis, Palmoplantar keratoderma, Hypertrichosis, Abnormal fingerna... |
ORPHA:678 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Failure to thrive, Long eyelashes, Pustule, Polyhydramnios, Epidermal acanth... |
OMIM:616069 |
| Restrictive Dermopathy |
|
Sparse eyebrow, Short nail, Camptodactyly of finger, Generalized hyperkeratosis, Sparse or absent... |
ORPHA:1662 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Dry... |
OMIM:613990 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Failure to thrive, Dry skin, Hyperuricemia, Hyponatremia, Sparse axillary hair... |
ORPHA:95409 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Increased body wei... |
ORPHA:64745 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Sparse eyebrow, Absent nipple, Eczematoid dermatitis, Fine hair, Sparse body hair, Periorbital wr... |
OMIM:305100 |
| Noonan Syndrome 14 |
|
Sparse eyebrow, Lymphopenia, Dry skin, Cryptorchidism, Low posterior hairline, Curly hair, Polyhy... |
OMIM:619745 |
| Classic Hodgkin Lymphoma |
|
Skin rash, Pruritus, Weight loss, Hyperhidrosis |
ORPHA:391 |
| Huntington Disease |
