| Linear Atrophoderma Of Moulin |
|
Scleroderma, Pruritus, Linear hyperpigmentation, Inflammatory abnormality of the skin |
ORPHA:140933 |
| Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
| Hypotrichosis 9 |
|
Sparse body hair, Sparse scalp hair |
OMIM:614237 |
| Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation |
OMIM:615327 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Hypotrichosis 1 |
|
Sparse body hair, Sparse eyebrow, Sparse axillary hair, Sparse pubic hair, Sparse eyelashes, Spar... |
OMIM:605389 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
| Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Hypotrichosis 4 |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
| Hypotrichosis Simplex |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair |
ORPHA:55654 |
| Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... |
OMIM:613000 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
OMIM:148730 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Hypotrichosis 10 |
|
Sparse body hair, Sparse eyelashes, Sparse eyebrow |
OMIM:614238 |
| Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... |
OMIM:615059 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Irregular hyperpigmentation, Hyperkeratosis, Multiple cafe-au-lait spots |
ORPHA:1336 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:617574 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
| Witkop Syndrome |
|
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair |
OMIM:189500 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:616760 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome |
|
Palmoplantar keratoderma, Ichthyosis |
ORPHA:281201 |
| Palmoplantar Keratoderma, Punctate Type Ii |
|
Porokeratosis, Spinous keratoses of palms and soles |
OMIM:175860 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Porokeratosis Of Mibelli |
|
Porokeratosis, Pruritus, Hyperkeratosis |
ORPHA:735 |
| Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... |
OMIM:604117 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... |
OMIM:615024 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Thin toenail, Sparse hair, Dystrophic toenail |
OMIM:614928 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Abnormality of skin pigmentation |
ORPHA:315 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis |
OMIM:613737 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... |
OMIM:601952 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... |
OMIM:145250 |
| Acanthosis Nigricans |
|
Acanthosis nigricans |
OMIM:100600 |
| Porokeratosis 6, Multiple Types |
|
Porokeratosis |
OMIM:612353 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Porokeratosis 9, Multiple Types |
|
Porokeratosis |
OMIM:616631 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Porokeratosis, Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis |
ORPHA:737 |
| Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hyperpigmentation |
ORPHA:2297 |
| Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair |
OMIM:617252 |
| Olmsted Syndrome, X-Linked |
|
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta... |
OMIM:300918 |
| Psoriasis 2 |
|
Parakeratosis, Hyperkeratosis, Psoriasiform dermatitis |
OMIM:602723 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis, Pruritus |
ORPHA:139414 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty hyperpig... |
ORPHA:79399 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll... |
OMIM:613736 |
| Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Orthokeratosis |
OMIM:618084 |
| Infantile Digital Fibromatosis |
|
Parakeratosis, Hyperkeratosis |
ORPHA:199267 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized hypopigmentation, Palmoplantar hyperkeratosis, Spotty hyperpigmentation, Parakeratosi... |
ORPHA:158681 |
| Alopecia Universalis Congenita |
|
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair |
OMIM:203655 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair, Nail dystrophy, Atrichia |
OMIM:614931 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
| Pityriasis Rubra Pilaris |
|
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis |
OMIM:173200 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:610753 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections |
ORPHA:79503 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis |
OMIM:101900 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Reduced terminal:vellus ratio, Sparse hair, Pili torti |
OMIM:601553 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... |
ORPHA:3361 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... |
ORPHA:2722 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair |
OMIM:234030 |
| Monilethrix |
|
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy |
OMIM:158000 |
| Hypertrichosis Lanuginosa Congenita |
|
Double eyebrow, Congenital, generalized hypertrichosis |
OMIM:145700 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
| Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin |
ORPHA:464318 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Erythroderma, Pa... |
OMIM:604777 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia |
ORPHA:701 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Hypotrichosis 12 |
|
Dry hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse or absent eyelashes, Slow-growin... |
OMIM:615885 |
| Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... |
OMIM:602032 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Abnormality of the nail, Onychogrypos... |
ORPHA:1808 |
| Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker... |
OMIM:612281 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythemat... |
ORPHA:79147 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Pityriasis Rubra Pilaris |
|
Irregular hyperpigmentation, Thickened skin, Ichthyosis, Pruritus, Eczema, Pustule, Subungual hyp... |
ORPHA:2897 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Pruritus |
OMIM:131850 |
| Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Perioral hyperkeratosis, Pa... |
OMIM:619208 |
| Bazex Syndrome |
|
Pruritus, Parakeratosis, Hyperkeratosis, Acanthosis nigricans, Lip hyperpigmentation, Palmoplanta... |
ORPHA:166113 |
| Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Hyperkeratosis, Follicular hyperkeratosis, Axillary and groin hyperpigment... |
ORPHA:69125 |
| Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma, Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Generalized ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyper... |
ORPHA:79395 |
| Hypotrichosis 7 |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal... |
OMIM:604379 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyel... |
ORPHA:2891 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia |
OMIM:104000 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform eryt... |
OMIM:617571 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Dystrophic toenail, Alopecia of scalp, Onychogryposis of toenails |
OMIM:617294 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dysplasia, Sparse hair, Nail dystrophy |
OMIM:211390 |
| Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... |
ORPHA:2889 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Neurofibromatosis Type 6 |
|
Freckling, Multiple cafe-au-lait spots |
ORPHA:2678 |
| Hypertrichosis, Congenital Generalized |
|
Hirsutism, Congenital, generalized hypertrichosis |
OMIM:307150 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritis on hand, Pruritus on foot, Parakeratosis, Pruritis on abdomen, Palmar pruritus, Pruritis... |
ORPHA:64745 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Parake... |
OMIM:242300 |
| Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... |
OMIM:613953 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes |
OMIM:616099 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hyperpigmentation |
ORPHA:2812 |
| Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:615896 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis |
OMIM:617525 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617526 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
Absent toenail, Sparse scalp hair, Dystrophic fingernails |
OMIM:614927 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m... |
ORPHA:573 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Trichodental Dysplasia |
|
Slow-growing hair, Sparse hair, Fine hair, Brittle hair |
OMIM:601453 |
| Crandall Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Brittle hair, Fine hair |
ORPHA:202 |
| Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
| Woolly Hair, Autosomal Dominant |
|
Dry hair, Abnormal eyebrow morphology, Woolly hair, Abnormal eyelash morphology, Coarse hair, Slo... |
OMIM:194300 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Olmsted Syndrome 1 |
|
Pruritus, Orthokeratosis, Parakeratosis, Hyperparakeratosis, Subungual hyperkeratosis, Palmoplant... |
OMIM:614594 |
| Dowling-Degos Disease 4 |
|
Pruritus, Hypergranulosis |
OMIM:615696 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hypopigmentation of the skin, Pruritus, Palmoplantar hyperkeratosis, Hyperpigmentation of the ski... |
ORPHA:89838 |
| Hypotrichosis 6 |
|
Sparse eyebrow, Pili torti, Brittle hair, Sparse eyelashes, Sparse hair |
OMIM:607903 |
| Hypotrichosis 14 |
|
Sparse body hair, Sparse pubic hair, Short eyelashes, Sparse hair, Absent axillary hair |
OMIM:618275 |
| Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma, Atopic dermatitis |
ORPHA:498359 |
| Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
| Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Inflammatory abnormality of the skin, Scleroderma, Morphea, Hyperpi... |
ORPHA:90158 |
| Porokeratosis |
|
Hyperkeratosis, Abnormality of skin pigmentation, Pruritus |
ORPHA:79358 |
| Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ichthyosis, Pruritus, Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:615821 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Parakeratosis, Hyperkeratosis |
OMIM:618339 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Ichthyosis, Hypergranulosis, Erythroderma |
OMIM:615022 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Hyperkeratotic papule, Mixed hypo- and hyperpigmentation of the skin, Spott... |
ORPHA:79397 |
| Bathing Suit Ichthyosis |
|
Thickened skin, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform eryt... |
ORPHA:100976 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Pili Torti, Early-Onset |
|
Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and... |
OMIM:261900 |
| Benign Cephalic Histiocytosis |
|
Skin rash, Inflammatory abnormality of the skin |
ORPHA:157997 |
| Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Pruritus |
ORPHA:83453 |
| Ulerythema Ophryogenesis |
|
Contact dermatitis, Hyperkeratotic papule, Follicular hyperkeratosis, Acne |
ORPHA:3406 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Congenital bullous ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Palmopla... |
ORPHA:312 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Mal De Meleda |
|
Ichthyosis, Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, S... |
ORPHA:87503 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Hypergranulosis |
ORPHA:79151 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pustule, Predominantly de... |
ORPHA:284426 |
| Lichen Planus Pemphigoides |
|
Conjunctivitis, Pruritus, Hypopigmented streaks, Hyperkeratosis, Blepharitis |
ORPHA:254478 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Ichthyosis, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:618546 |
| Acquired Ichthyosis |
|
Ichthyosis, Pruritus, Hyperkeratosis, Recurrent skin infections, Palmoplantar keratoderma |
ORPHA:454 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Ung... |
ORPHA:1433 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor... |
OMIM:614929 |
| Hypotrichosis Simplex Of The Scalp |
|
Pruritus, Allergic rhinitis, Parakeratosis, Hyperkeratosis, Atopic dermatitis |
ORPHA:90368 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology |
ORPHA:1008 |
| Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
| Psoriasis 14, Pustular |
|
Oligoarthritis, Cholangitis, Parakeratosis, Pustule, Psoriasiform dermatitis |
OMIM:614204 |
| Parc Syndrome |
|
Absent eyelashes, Alopecia, Absent eyebrow |
OMIM:600331 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Abnormal toenai... |
ORPHA:1818 |
| Kerion Celsi |
|
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... |
ORPHA:499 |
| Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Ichthyosis |
OMIM:146700 |
| Palmoplantar Keratoderma, Epidermolytic |
|
Palmar hyperkeratosis, Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Localized epidermolyt... |
OMIM:144200 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Fine hair, Sparse hair, Sparse eyelashes, Ridged nail, Slow-growing hair |
OMIM:129490 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hyperkeratosis, Ichthyosis, Hypergranulosis, Orthokeratosis |
OMIM:613943 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Ichthyosis, Cobblestone-like hyperkeratosis, Punctate keratitis, Palmoplantar hyperkeratosis, Pal... |
OMIM:602540 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperke... |
ORPHA:2200 |
| Chilblain Lupus |
|
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash... |
ORPHA:90280 |
| Darier Disease |
|
Abnormality of skin pigmentation, Thickened skin, Pruritus, Acrokeratosis, Hypermelanotic macule,... |
ORPHA:218 |
| Bjornstad Syndrome |
|
Alopecia, Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular int... |
OMIM:262000 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis |
OMIM:148600 |
| Ichthyosis Prematurity Syndrome |
|
Generalized ichthyosis, Allergic rhinitis, Erythroderma, Hyperpigmentation of the skin, Pruritus,... |
OMIM:608649 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Abnormal hair m... |
ORPHA:248 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Palmoplantar hyperkeratosis |
OMIM:607602 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hyperkeratosis, H... |
OMIM:615023 |
| Epidermolytic Palmoplantar Keratoderma |
|
Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palma... |
ORPHA:2199 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Chronic rhinitis |
OMIM:615225 |
| Schopf-Schulz-Passarge Syndrome |
|
Apocrine hidrocystoma, Small nail, Poroma, Thin nail, Onycholysis, Ridged nail, Narrow nail, Spar... |
OMIM:224750 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, Coarse hair, Sparse hair, Sp... |
ORPHA:113 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Classic Mycosis Fungoides |
|
Irregular hyperpigmentation, Pruritus, Skin rash, Eczema, Hypopigmented skin patches, Hyperkeratosis |
ORPHA:2584 |
| Netherton Syndrome |
|
Parakeratosis, Erythroderma, Allergic rhinitis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:256500 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ey... |
OMIM:613102 |
| X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis, Ichthyosis |
ORPHA:3052 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Dystrophic toenail, Woolly hair |
OMIM:619209 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Nail dystrophy, Tiger tail banding, Sparse hair |
OMIM:619692 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Plantar hyperkeratosis |
OMIM:616487 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Erythroderma, Allergic rhinitis, Eczema, Hypopigmented skin patches... |
ORPHA:330064 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Widow's peak, Thick eyebrow, Sparse hair |
OMIM:606242 |
| Chand Syndrome |
|
Nail dysplasia, Curly hair |
OMIM:214350 |
| Neonatal Lupus Erythematosus |
|
Malar rash, Skin rash, Parakeratosis, Hyperkeratosis, Maculopapular exanthema |
ORPHA:398124 |
| Dermatitis, Atopic |
|
Conjunctivitis, Ichthyosis, Allergic rhinitis, Eczema, Recurrent skin infections, Pruritus, Atopi... |
OMIM:603165 |
| Peeling Skin Syndrome 4 |
|
Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:607936 |
| Moynahan Syndrome |
|
Alopecia, Sparse hair |
ORPHA:2574 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
| Acral Peeling Skin Syndrome |
|
Hyperpigmentation of the skin, Ichthyosis, Eczema |
ORPHA:263534 |
| Epidermolytic Hyperkeratosis |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythroderma |
OMIM:113800 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Dowling-Degos Disease |
|
Progressive reticulate hyperpigmentation, Hyperkeratotic papule, Pruritus, Mixed hypo- and hyperp... |
ORPHA:79145 |
| Chromomycosis |
|
Hyperkeratotic papule, Pruritus, Keratoconjunctivitis sicca, Hypopigmented skin patches, Hyperpar... |
ORPHA:182 |
| Hypotrichosis 5 |
|
Alopecia, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morphology, Absent pubic ha... |
OMIM:612841 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:212360 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypoplastic toenails, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Hypopla... |
ORPHA:2228 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Hypertrichosis |
OMIM:617524 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Absent facial hair, Pa... |
OMIM:613573 |
| Cole Disease |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, H... |
OMIM:615522 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Curly eyelashes, Sparse e... |
OMIM:602400 |
| Alopecia Antibody Deficiency |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormal eyelash morphology |
ORPHA:1006 |
| Proliferating Trichilemmal Cyst |
|
Sparse scalp hair |
ORPHA:492 |
| Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Sparse hair, Fine hair |
OMIM:615278 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis, Cafe-au-lait spot, Recurrent otitis media |
OMIM:618625 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Ridged nail, Nail dystrophy, Nail pits |
OMIM:601705 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans |
OMIM:618527 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent skin infections, Orthokeratosis, Psoriasiform dermatitis, Erythroderma, Acantholysis, P... |
OMIM:615508 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Fine hair, Dystrophic fingernails |
ORPHA:1882 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Pruritus |
ORPHA:409 |
| Disseminated Superficial Actinic Porokeratosis |
|
Porokeratosis, Pruritus |
ORPHA:79152 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Absent lower eyelashes, Distichiasis, Sparse hair, Low anterior hairline |
OMIM:227260 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each ... |
OMIM:148700 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Sparse scalp hair, Sparse eyelashes, Sparse hair, Slow-growing hair |
OMIM:618535 |
| Pilodental Dysplasia With Refractive Errors |
|
Brittle scalp hair, Sparse scalp hair, Abnormality of the nail, Brittle hair |
OMIM:262020 |
| Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Brittle hair, Alopecia totalis, Fine hair, Onycholysis, Nai... |
OMIM:129500 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Palmoplantar keratoderma, Hyperkeratotic papule |
OMIM:146590 |
| Focal Facial Dermal Dysplasia Type I |
|
Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair, Low anterior hairline |
ORPHA:79133 |
| Naxos Disease |
|
Abnormality of hair texture, Sparse scalp hair, Curly hair, Woolly hair |
ORPHA:34217 |
| Erythrokeratodermia Variabilis |
|
Irregular hyperpigmentation, Skin rash, Hypermelanotic macule, Hyperkeratosis, Patchy palmoplanta... |
ORPHA:317 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse body hair, Sparse scalp hair, Absent eyelashes, Supernumerary nipple, Trichodysplasia, Abn... |
ORPHA:1809 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
| Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
| Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis |
ORPHA:79148 |
| Atrophoderma Vermiculata |
|
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Fine hair, Brittle hair |
ORPHA:1573 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Long eyebrows, Long eyelashes, Sparse hair |
OMIM:275400 |
| Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Trichodysplasia... |
ORPHA:2890 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Ichthyosis, Orthokeratosis, Sclerosing cholangitis, Parakeratosis, Pruritus |
OMIM:607626 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:461 |
| Lichen Planopilaris |
|
Hepatitis, Hyperkeratosis, Pruritus, Hypopigmented skin patches |
ORPHA:525 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyelashes, Alopecia of scalp, Absent eyebrow, Sparse hair, Dystrophic fingernails, Nail dy... |
OMIM:604536 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
| Hypotrichosis 3 |
|
Abnormal sweat gland morphology, Sparse scalp hair, Abnormal eyelash morphology, Abnormality of t... |
OMIM:613981 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Ridged fingernail, Onychogryposis of fingernail, Sparse hair |
ORPHA:2251 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyebrow, Progressive hypotrichosis, Brittle hair, Nail dysplasia, Sparse eyelashes, Abnorm... |
OMIM:225060 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Skin rash, Thickened skin |
ORPHA:1658 |
| Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Coarse hair |
OMIM:616390 |
| Sjögren-Larsson Syndrome |
|
Ichthyosis, Inflammatory abnormality of the eye, Generalized hyperpigmentation, Abnormality of re... |
ORPHA:816 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair |
OMIM:617392 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Porphyria Cutanea Tarda, Type I |
|
Hyperpigmentation of the skin, Eczema |
OMIM:176090 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Nail dystrophy, Anonychia, Scarring alopecia of scalp |
ORPHA:79402 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Thickened skin, Ocular albinism, Albinism, Iris hypopigmentation, H... |
ORPHA:79431 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Pseudopelade Of Brocq |
|
Alopecia, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal... |
ORPHA:129 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Ichthyosis, Eczema |
ORPHA:3055 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis |
ORPHA:38 |
| Immunodeficiency 15A |
|
Acne inversa, Cutaneous abscess, Recurrent otitis media, Recurrent sinusitis, Chronic mucocutaneo... |
OMIM:618204 |
| Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:613576 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse hair |
ORPHA:50944 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair |
ORPHA:2985 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Profuse pigmented skin lesions, Pruritus, Erythroderma |
ORPHA:280785 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Pruritus |
ORPHA:89843 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Sparse hair, Abnormal fingernail morphology |
ORPHA:1810 |
| Amaurosis-Hypertrichosis Syndrome |
|
Synophrys, Thick eyebrow, Abnormal eyelash morphology, Coarse hair |
ORPHA:1021 |
| Dermoodontodysplasia |
|
Sparse body hair, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Trichodysplasia |
ORPHA:1660 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Coarse hair, Sparse hair, Brittle hair |
ORPHA:1883 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythro... |
OMIM:606545 |
| Irida Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Immunodeficiency 104 |
|
Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis media, Otitis media, Pneumonia |
OMIM:608971 |
| Darier-White Disease |
|
Acrokeratosis, Acantholysis, Hypermelanotic macule, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
| Skin Fragility-Woolly Hair Syndrome |
|
Alopecia, Sparse eyebrow, Woolly hair, Sparse eyelashes, Nail dystrophy |
OMIM:607655 |
| Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
| Epidermodysplasia Verruciformis |
|
Hypopigmented skin patches, Pustule, Multiple cafe-au-lait spots, Recurrent skin infections, Sebo... |
ORPHA:302 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse body hair, Sparse scalp hair, Sparse axillary hair, Absent eyebrow, Short eyelashes |
OMIM:608615 |
| Bazex Syndrome |
|
Trichorrhexis nodosa, Pili torti, Coarse hair, Trichoepithelioma, Sparse hair |
OMIM:301845 |
| Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis |
ORPHA:494 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair |
ORPHA:181 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
| Harlequin Ichthyosis |
|
Hyperkeratosis, Ichthyosis, Congenital ichthyosiform erythroderma, Erythroderma |
ORPHA:457 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Palmoplantar keratoderma, Hyperkeratotic papule, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Small nail, Trichorrhexis nodosa, Brittle hair, Woolly hair, Nail dysplasia, Concave nail, Sparse... |
OMIM:234050 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
| Copper Deficiency, Familial Benign |
|
Early balding, Curly hair |
OMIM:121270 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Pruritus, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, ... |
OMIM:616295 |
| Trichohepatoenteric Syndrome 2 |
|
Trichorrhexis nodosa, Brittle hair, Woolly hair, Uncombable hair, Sparse hair |
OMIM:614602 |
| Proteus Syndrome |
|
Hyperkeratosis, Depigmentation/hyperpigmentation of skin |
OMIM:176920 |
| Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Hyperkeratosis |
ORPHA:2841 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis |
OMIM:613148 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Scarring alopecia of scalp, Sparse eyelashes |
ORPHA:59303 |
| Eem Syndrome |
|
Sparse body hair, Sparse scalp hair, Absent eyebrow |
ORPHA:1897 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Conjunctivitis, Folliculitis, Keratitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Ble... |
OMIM:308800 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Hyperkeratosis, Abnormality of skin pigmentation, Ichthyosis, Eczema |
OMIM:612379 |
| Lipoid Proteinosis |
|
Pustule, Hyperkeratosis, Thickened skin, Acne |
ORPHA:530 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Trichorrhexis nodosa, Sparse pubic hair, Hypoplastic fingernail, Concave nail, Curly ... |
OMIM:258360 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Absent hair, Absent nipple, Sparse hair, Brittle hair |
OMIM:614940 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse axillary hair, Sparse pubic hair |
OMIM:146110 |
| Lamellar Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Erythroderma, Pruritus, Chronic otitis media |
ORPHA:313 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
| Van Den Bosch Syndrome |
|
Acrokeratosis, Recurrent skin infections |
ORPHA:3417 |
| De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Hypermelanotic macule, Keratitis, Conjunctivitis |
OMIM:278800 |
| Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Absent facial hair, Sparse facial hair, Low posterior hairline |
ORPHA:2183 |
| Phenylketonuria |
|
Generalized hypopigmentation, Fair hair, Eczema, Scleroderma, Blue irides |
OMIM:261600 |
| Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Ichthyosis, Pruritus, Erythroderma, Keratitis, Palmoplantar keratoderma |
ORPHA:79394 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair |
ORPHA:2850 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Acne inversa, Eczema, Subungual hyperkeratosis, Orthokeratosis |
OMIM:617337 |
| Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
| Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Dystrophic toenail, Sparse axillary hair, Scarring alopecia of scalp, ... |
ORPHA:251393 |
| Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
| Bullous Impetigo |
|
Septic arthritis, Recurrent bacterial skin infections, Pustule |
ORPHA:36237 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
| Idiopathic Trachyonychia |
|
Vitiligo, Ichthyosis, Atopic dermatitis, Circumungual hyperkeratosis |
ORPHA:79153 |
| Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis |
OMIM:147050 |
| Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Sparse hair, Fine hair |
ORPHA:1839 |
| Ichthyosis With Confetti |
|
Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:609165 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Long eyelashes, Hirsutism, Thick eyebrow, Sparse hair, Low anterior hairline |
OMIM:616819 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Trichorrhexis nodosa, Sparse eyebrow, Sparse hair, Woolly hair |
OMIM:619691 |
| Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Palmar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosi... |
OMIM:615726 |
| Pachyonychia Congenita 2 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Nail dysplasia, Subungual hyperkeratosis, Nail dystr... |
OMIM:167210 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lateral eyebrow, Abnormal hair pattern, Highly arched eyebrow, Sparse lower eyelashes, Dis... |
ORPHA:1807 |
| Ramon Syndrome |
|
Hyperkeratosis, Abnormality of retinal pigmentation |
ORPHA:3019 |
| Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
| Progeroid Syndrome, Petty Type |
|
Brittle hair, Long eyelashes in irregular rows, Abnormality of the nail, Generalized hirsutism, A... |
ORPHA:2963 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Cutaneous abscess, Recurrent otitis media, Recurrent skin infections |
OMIM:618944 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Reticular hyperpigmentation, Recurrent pneumonia, Colitis, Hyperkeratosis, Genera... |
OMIM:301220 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dysplasia, Nail dystrophy, Abnormality of hair texture |
OMIM:601957 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
| Dracunculiasis |
|
Skin rash, Pruritus, Recurrent cutaneous abscess formation, Arthritis |
ORPHA:231 |
| Blepharocheilodontic Syndrome 1 |
|
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair |
OMIM:119580 |
| Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
| Acquired Hypertrichosis Lanuginosa |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Hyperparakeratosis |
ORPHA:276280 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the large intestine, Colitis, Recurren... |
OMIM:300635 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash |
OMIM:619175 |
| Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
| Immunodeficiency 50 |
|
Eczema |
OMIM:300988 |
| Peeling Skin Syndrome 1 |
|
Onycholysis, Nail dystrophy, Brittle hair |
OMIM:270300 |
| Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Hyperkeratosis, Epidermal hyperkeratosis, Multiple lentigines |
OMIM:613707 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse body hair, Sparse scalp hair, Sparse lateral eyebrow, Absent eyelashes, Absent nipple, Abs... |
OMIM:614941 |
| Poikiloderma With Neutropenia |
|
Conjunctivitis, Skin rash, Recurrent sinusitis, Plantar hyperkeratosis, Recurrent otitis media, R... |
OMIM:604173 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Orthokeratosis |
OMIM:308050 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Thickened skin, Seborrheic dermatitis, Acne |
OMIM:614441 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Woolly hair |
OMIM:605676 |
| Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Absent facial hair, Sparse pubic hair |
OMIM:300068 |
| Noonan Syndrome 8 |
|
Hyperpigmentation of the skin, Hyperkeratosis, Eczema |
OMIM:615355 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Growth Hormone Insensitivity Syndrome |
|
Fine hair, Abnormality of the nail |
ORPHA:181393 |
| Elastoderma |
|
Eczema, Erysipelas |
ORPHA:228240 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent sinusitis, Eczema, Recurrent o... |
OMIM:618282 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Brittle hair, Reduced hair sulfur content, Sparse hair, Slow-... |
OMIM:300953 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Hyper... |
OMIM:242100 |
| Juvenile Idiopathic Arthritis |
|
Thickened skin, Skin rash, Arthritis, Uveitis, Generalized hyperkeratosis, Psoriasiform dermatitis |
ORPHA:92 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse body hair, Alopecia, Sparse scalp hair, Absent eyelashes, Absent eyebrow |
ORPHA:69735 |
| Filippi Syndrome |
|
Hypertrichosis, Frontal hirsutism, Sparse hair |
OMIM:272440 |
| Netherton Syndrome |
|
Irregular hyperpigmentation, Ichthyosis, Erythroderma, Skin rash, Eczema, Congenital nonbullous i... |
ORPHA:634 |
| Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
| Lupus Erythematosus Tumidus |
|
Depigmentation/hyperpigmentation of skin, Deep dermal perivascular inflammatory infiltrate |
ORPHA:90283 |
| Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis |
OMIM:617066 |
| Lelis Syndrome |
|
Sparse lateral eyebrow, Yellow nails, Absent lower eyelashes, Abnormal toenail morphology, Sparse... |
ORPHA:140936 |
| Milroy Disease |
|
Hyperkeratosis, Erysipelas |
ORPHA:79452 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo, Hashimoto thyroiditis |
OMIM:607836 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis, Erythroderma |
OMIM:133190 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Long eyelashes, Abnormal hair pattern, Highly arched eyebrow, Curly eyelashes, Sparse hair |
ORPHA:3051 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Sparse hair, Nail dystrophy |
OMIM:616353 |
| Cranio-Osteoarthropathy |
|
Mottled pigmentation, Arthritis, Eczema, Osteoarthritis |
ORPHA:1525 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Pemphigus Erythematosus |
|
Acantholysis, Malar rash, Hypopigmented skin patches |
ORPHA:79480 |
| Mycosis Fungoides |
|
Psoriasiform dermatitis, Pruritus, Eczema |
OMIM:254400 |
| Craniofrontonasal Dysplasia |
|
Widow's peak, Ridged fingernail, Woolly hair, Low posterior hairline, Abnormality of hair texture |
ORPHA:1520 |
| Anauxetic Dysplasia 2 |
|
Nail dysplasia, Small nail, Sparse hair |
OMIM:617396 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse eyebrow, Sparse hair |
OMIM:619989 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Stomatitis, Pustule, Hyperkeratosis |
OMIM:612852 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Eczema, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus, Seborrh... |
ORPHA:83617 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess, Pustule, Acantholys... |
ORPHA:555905 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Small nail, Sparse hair, Hypoplastic nipples |
OMIM:273400 |
| Weaver Syndrome |
|
Hypoplastic toenails, Fine hair, Deep-set nails, Abnormal fingernail morphology, Thin nail |
ORPHA:3447 |
| Papillon-Lefèvre Syndrome |
|
Periodontitis, Chronic furunculosis, Palmoplantar hyperkeratosis, Severe periodontitis, Hypopigme... |
ORPHA:678 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:614457 |
| Cronkhite-Canada Syndrome |
|
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to... |
ORPHA:2930 |
| Menkes Disease |
|
Alopecia, Sparse hair, Brittle hair |
OMIM:309400 |
| Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Generalized hypopigmentation of hair, Inflammatory abnormality of th... |
ORPHA:238468 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616029 |
| Pemphigus Foliaceus |
|
Pruritus, Crusting erythematous dermatitis, Pustule, Erythroderma, Acantholysis, Psoriasiform der... |
ORPHA:79481 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
| Subcorneal Pustular Dermatosis |
|
Hyperpigmentation of the skin, Pruritus, Pustule, Rheumatoid arthritis |
ORPHA:48377 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Sparse hair |
OMIM:183849 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Thickened skin, Seborrheic dermatitis, Acne |
OMIM:167100 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair |
ORPHA:261304 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Fine hair |
ORPHA:1028 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90159 |
| Cardiofaciocutaneous Syndrome 4 |
|
Curly hair, Alopecia of scalp, Absent eyebrow, Sparse eyelashes, Sparse hair |
OMIM:615280 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Nail dystrophy, Coarse hair |
ORPHA:75389 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyebrow, Small nail, Supernumerary nipple, Fine hair, Onychogryposis, Decreased number of ... |
OMIM:129400 |
| Prolidase Deficiency |
|
Pruritus, Crusting erythematous dermatitis, Abnormality of retinal pigmentation, White forelock, ... |
ORPHA:742 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse lateral eyebrow, Pili torti, Thin eyebrow, Sparse eyelashes, Sparse hair, Low anterior hai... |
ORPHA:1787 |
| Acrogeria |
|
Fine hair |
ORPHA:2500 |
| Familial Keratoacanthoma |
|
Hyperkeratosis |
ORPHA:493 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Synophrys, Curly hair, Coarse hair |
OMIM:616351 |
| Reynolds Syndrome |
|
Sclerodactyly, Irregular hyperpigmentation, Pruritus, Skin rash, Arthritis, Keratoconjunctivitis ... |
ORPHA:779 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
| Adult Syndrome |
|
Alopecia, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Absent nipple, Abnormality ... |
ORPHA:978 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
| Odontoonychodermal Dysplasia |
|
Sparse body hair, Dystrophic toenail, Dry hair, Sparse scalp hair, Sparse eyebrow, Short nail, Fi... |
OMIM:257980 |
| Cranioectodermal Dysplasia |
|
Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology |
ORPHA:1515 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Pancolitis, Enterocolitis, Perianal abscess, Folliculitis |
OMIM:612567 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Arthritis, Myositis, Pustule, Increased inflammatory response, Acne |
ORPHA:69126 |
| Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Abnormality of skin pigmentation, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... |
ORPHA:275 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Synophrys, Thick eyebrow, Sparse hair |
OMIM:611091 |
| Even-Plus Syndrome |
|
Synophrys, Sparse hair, Highly arched eyebrow |
OMIM:616854 |
| Rhizomelic Chondrodysplasia Punctata |
|
Sparse body hair, Alopecia |
ORPHA:177 |
| Noonan Syndrome 6 |
|
