| Linear Atrophoderma Of Moulin |
|
Pruritus, Scleroderma, Inflammatory abnormality of the skin, Linear hyperpigmentation |
ORPHA:140933 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis |
OMIM:615327 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
| Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation |
ORPHA:1336 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
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 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation, Hyperkeratosis |
ORPHA:315 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,... |
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 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus |
ORPHA:737 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hyperpigmentation |
ORPHA:2297 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... |
OMIM:300918 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Pru... |
ORPHA:79399 |
| Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
| Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Atopic dermatitis, Pruritus |
OMIM:618084 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, ... |
ORPHA:158681 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
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, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
| Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... |
ORPHA:2897 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi... |
ORPHA:79395 |
| Bazex Syndrome |
|
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Acanthosis nigricans, Lip hype... |
ORPHA:166113 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Hyperkeratosis, Hypermelanotic macule,... |
ORPHA:69125 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt... |
OMIM:617571 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre... |
ORPHA:64745 |
| Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hyperpigmentation |
ORPHA:2812 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
| Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes |
OMIM:620199 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
Sparse scalp hair, Dystrophic fingernails, Absent toenail |
OMIM:614927 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Dowling-Degos Disease 4 |
|
Pruritus, Hypergranulosis |
OMIM:615696 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery... |
OMIM:607602 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypopigmentation of the skin, Hyperpigment... |
ORPHA:89838 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma, Atopic dermatitis |
ORPHA:498359 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus, Scleroderma, Morphea, Hypopigmentation of the ski... |
ORPHA:90158 |
| Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
| Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Ret... |
ORPHA:79397 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Erythroderma, Hypergranulosis, Ichthyosis |
OMIM:615022 |
| Bathing Suit Ichthyosis |
|
Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Congenital nonbullous i... |
ORPHA:100976 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Acne, Contact dermatitis, Follicular hyperkeratosis |
ORPHA:3406 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis |
ORPHA:83453 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod... |
ORPHA:312 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... |
ORPHA:87503 |
| Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Hypopigmented streaks, Conjunctivitis, Blepharitis |
ORPHA:254478 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
| Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
ORPHA:454 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
| Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Allergic rhinitis, Pruritus, Atopic dermatitis, Hyperkeratosis |
ORPHA:90368 |
| Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis |
OMIM:614204 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
| Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Ichthyosis |
OMIM:146700 |
| Darier Disease |
|
Acrokeratosis, Hypermelanotic macule, Pruritus, Thickened skin, Abnormality of skin pigmentation,... |
ORPHA:218 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmo... |
OMIM:602540 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
| Netherton Syndrome |
|
Parakeratosis, Recurrent skin infections, Allergic rhinitis, Eczema, Congenital nonbullous ichthy... |
OMIM:256500 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
ORPHA:2200 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ... |
ORPHA:90280 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
| Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Hyp... |
OMIM:608649 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
| Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... |
ORPHA:2199 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyperkeratosis |
OMIM:615225 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Classic Mycosis Fungoides |
|
Skin rash, Eczema, Pruritus, Hypopigmented skin patches, Hyperkeratosis, Irregular hyperpigmentation |
ORPHA:2584 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis, Ichthyosis |
ORPHA:3052 |
| Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Plantar hyperkeratosis |
OMIM:616487 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Thick eyebrow |
OMIM:606242 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:607936 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Progressive hyperpigmentation, Eczema, Allergic rhinitis, Pruritus,... |
ORPHA:330064 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis |
OMIM:617525 |
| Dowling-Degos Disease |
|
Inguinal freckling, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Pruritu... |
ORPHA:79145 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis... |
OMIM:603165 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Acral Peeling Skin Syndrome |
|
Eczema, Hyperpigmentation of the skin, Ichthyosis |
ORPHA:263534 |
| Epidermolytic Hyperkeratosis 1 |
|
Erythroderma, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma |
OMIM:113800 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis |
OMIM:212360 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
| Chromomycosis |
|
Pruritus, Keratitis, Hyperparakeratosis, Hypopigmented skin patches, Hyperkeratosis, Keratoconjun... |
ORPHA:182 |
| Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Hyperkeratosis, Cafe-au-lait spot |
OMIM:618625 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
| Proliferating Trichilemmal Cyst |
|
Sparse scalp hair |
ORPHA:492 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis |
OMIM:618527 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans |
ORPHA:409 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
| Disseminated Superficial Actinic Porokeratosis |
|
Pruritus, Porokeratosis |
ORPHA:79152 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma |
OMIM:146590 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
| Erythrokeratodermia Variabilis |
|
Skin rash, Hypermelanotic macule, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Irregular h... |
ORPHA:317 |
| Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail |
ORPHA:2251 |
| Atrophoderma Vermiculata |
|
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Pruritus, Sclerosing cholangitis, Ichthyosis, Orthokeratosis |
OMIM:607626 |
| Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis |
ORPHA:79148 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
| Lichen Planopilaris |
|
Pruritus, Hyperkeratosis, Hypopigmented skin patches, Hepatitis |
ORPHA:525 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:461 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
| Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
| Hypotrichosis 3 |
|
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... |
OMIM:613981 |
| Porphyria Cutanea Tarda, Type I |
|
Eczema, Hyperpigmentation of the skin |
OMIM:176090 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hyperkeratosis, Ichthyosis, I... |
ORPHA:816 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thickened skin, Skin rash |
ORPHA:1658 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
| Immunodeficiency 53 |
|
Recurrent otitis media, Recurrent pneumonia, Skin rash |
OMIM:617585 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair |
ORPHA:79402 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Freckling, H... |
ORPHA:79431 |
| Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Eczema, Ichthyosis |
ORPHA:3055 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
| Immunodeficiency 15A |
|
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... |
OMIM:618204 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma |
OMIM:613576 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Profuse pigmented skin lesions, Erythroderma |
ORPHA:280785 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
| Irida Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes |
ORPHA:3363 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... |
OMIM:606545 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:1883 |
| Darier-White Disease |
|
Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair |
ORPHA:1810 |
| Immunodeficiency 104 |
|
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media |
OMIM:608971 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
| Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
| Epidermodysplasia Verruciformis |
|
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c... |
ORPHA:302 |
| Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis |
ORPHA:457 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
| Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:494 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... |
OMIM:234050 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... |
OMIM:616295 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i... |
OMIM:615508 |
| Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
| Proteus Syndrome |
|
Hyperkeratosis, Depigmentation/hyperpigmentation of skin |
OMIM:176920 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Early balding |
OMIM:121270 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
| Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
| Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
| Lipoid Proteinosis |
|
Hyperkeratosis, Thickened skin, Pustule, Acne |
ORPHA:530 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair |
ORPHA:59303 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Hyperkeratosis, Eczema, Ichthyosis |
OMIM:612379 |
| Lamellar Ichthyosis |
|
Pruritus, Hyperkeratosis, Ichthyosis, Erythroderma, Chronic otitis media |
ORPHA:313 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hyperkeratosis, Ble... |
OMIM:308800 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
| Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Malar rash, Papuloves... |
ORPHA:330058 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse pubic hair, Sparse axillary hair |
OMIM:146110 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
| Phenylketonuria |
|
Eczema, Blue irides, Scleroderma, Fair hair, Generalized hypopigmentation |
OMIM:261600 |
| Van Den Bosch Syndrome |
|
Recurrent skin infections, Acrokeratosis |
ORPHA:3417 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| De Sanctis-Cacchione Syndrome |
|
Keratitis, Parakeratosis, Conjunctivitis, Hypermelanotic macule |
OMIM:278800 |
| Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Hyperkeratosis, Malar rash, Cheilitis |
ORPHA:163525 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa |
OMIM:617337 |
| Congenital Ichthyosiform Erythroderma |
|
Keratitis, Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma |
ORPHA:79394 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
| Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Hyperkeratosis, Interstitial pneumonitis, Hypopigmentation ... |
ORPHA:454831 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
| Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Septic arthritis |
ORPHA:36237 |
| Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
| Idiopathic Trachyonychia |
|
Circumungual hyperkeratosis, Vitiligo, Atopic dermatitis, Ichthyosis |
ORPHA:79153 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
| Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis |
OMIM:147050 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... |
OMIM:615726 |
| Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... |
OMIM:167210 |
| Ichthyosis With Confetti |
|
Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroder... |
OMIM:609165 |
| Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
| Ramon Syndrome |
|
Hyperkeratosis, Abnormality of retinal pigmentation |
ORPHA:3019 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Reticular hyperpigmentation, Generalized reticulate brown pi... |
OMIM:301220 |
| Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Recurrent skin infections, Atopic dermatitis, Cutaneous abscess |
OMIM:618944 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
| Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
| Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
| Dracunculiasis |
|
Pruritus, Recurrent cutaneous abscess formation, Skin rash, Arthritis |
ORPHA:231 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Onycholysis, Nail dystrophy |
OMIM:270300 |
| Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Hyperkeratosis, Multiple lentigines, Epidermal hyperkeratosis |
OMIM:613707 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... |
OMIM:614941 |
| Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Recurrent pneumonia, Reticular hyperpigmentation, Hyperkeratos... |
OMIM:604173 |
| Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash |
OMIM:619175 |
| Immunodeficiency 50 |
|
Eczema |
OMIM:300988 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Congenital ichthyosiform erythroderma |
OMIM:308050 |
| Androgen Insensitivity Syndrome |
|
Sparse pubic hair, Absent facial hair, Sparse axillary hair |
OMIM:300068 |
| Noonan Syndrome 8 |
|
Hyperkeratosis, Eczema, Hyperpigmentation of the skin |
OMIM:615355 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Thickened skin, Acne, Seborrheic dermatitis |
OMIM:614441 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma, Ichthyosis |
OMIM:618840 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar keratoderma,... |
OMIM:242100 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
| Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
| Elastoderma |
|
Erysipelas, Eczema |
ORPHA:228240 |
| Filippi Syndrome |
|
Sparse hair, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:618282 |
| Netherton Syndrome |
|
Skin rash, Eczema, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ac... |
ORPHA:634 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Depigmentation/hyperpigmentation of skin |
ORPHA:90283 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
| Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... |
ORPHA:140936 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Hashimoto thyroiditis, Vitiligo |
OMIM:607836 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Recurrent skin infections, Ocular albinism |
OMIM:614171 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair |
ORPHA:3051 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
| Milroy Disease |
|
Hyperkeratosis, Erysipelas |
ORPHA:79452 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Pemphigus Erythematosus |
|
Malar rash, Hypopigmented skin patches, Acantholysis |
ORPHA:79480 |
| Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair |
ORPHA:1520 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
| Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Mottled pigmentation, Eczema |
ORPHA:1525 |
| Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
| Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Ulcerative colitis, Cutan... |
ORPHA:555905 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Stomatitis |
OMIM:612852 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... |
ORPHA:83617 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
| Weaver Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair |
ORPHA:3447 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:616029 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis |
OMIM:614457 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Eczema, Hyperkeratosis, Keratoconjunctivitis sicca, Generalized hypopigmentation of ha... |
ORPHA:238468 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
| Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Pustule, ... |
ORPHA:678 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
| Subcorneal Pustular Dermatosis |
|
Pruritus, Pustule, Hyperpigmentation of the skin, Rheumatoid arthritis |
ORPHA:48377 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop... |
ORPHA:293173 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp |
OMIM:615280 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair |
ORPHA:1028 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Thickened skin, Acne, Seborrheic dermatitis |
OMIM:167100 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90159 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Pruritus, Crusting erythematous dermatitis, Hyperkeratosis, ... |
ORPHA:742 |
| Familial Keratoacanthoma |
|
Hyperkeratosis |
ORPHA:493 |
| Acrogeria |
|
Fine hair |
ORPHA:2500 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
| Reynolds Syndrome |
|
Skin rash, Pruritus, Arthritis, Keratoconjunctivitis sicca, Irregular hyperpigmentation, Infectio... |
ORPHA:779 |
| Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Cheilitis, Hepatitis, Hyperkeratosis |
ORPHA:1334 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash |
OMIM:620321 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Hyperkeratosis, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Noonan Syndrome 6 |
|
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline |
OMIM:613224 |
| Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Sparse hair, Synophrys, Thick eyebrow |
OMIM:611091 |
| Even-Plus Syndrome |
|
Sparse hair, Synophrys, Highly arched eyebrow |
OMIM:616854 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis |
OMIM:612567 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Ichthyosis |
OMIM:610768 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Juvenile rheuma... |
ORPHA:275 |
| Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
| Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
| Pachyonychia Congenita |
|
Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar kerato... |
ORPHA:2309 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
| Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
| Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
| Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... |
ORPHA:3353 |
| Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Erythroderma |
OMIM:609180 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Blepharitis |
OMIM:612843 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneo... |
OMIM:147060 |
| Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Osteomyelitis |
ORPHA:36386 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T... |
OMIM:601675 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca, Follicular hyperke... |
OMIM:617388 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Sparse hair, Abnormal hair whorl |
ORPHA:2872 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
| Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... |
ORPHA:3253 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology |
ORPHA:3082 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis |
OMIM:615279 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... |
ORPHA:163654 |
| Wiskott-Aldrich Syndrome 2 |
|
Eczema |
OMIM:614493 |
| Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Hatipoglu Immunodeficiency Syndrome |
|
Eczema, Hyperpigmented/hypopigmented macules, Thickened skin, Atopic dermatitis, Premature grayin... |
OMIM:620331 |
| Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes... |
ORPHA:29207 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair |
OMIM:300869 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
| Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes |
ORPHA:2316 |
| Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair |
OMIM:605676 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis |
OMIM:617066 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Fine hair |
OMIM:616817 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Keratitis, Hyperkeratosis, Keratoconjunctivitis sicca, Ichth... |
OMIM:148210 |
| Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
| Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
| Distal Duplication 6P |
|
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity |
ORPHA:1745 |
| Fixed Drug Eruption |
|
Stomatitis, Crusting erythematous dermatitis, Hyperpigmentation of the skin |
ORPHA:293812 |
| Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis |
OMIM:611762 |
| Lymphatic Malformation 12 |
|
Hyperkeratosis |
OMIM:620014 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H... |
OMIM:308300 |
| 19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ... |
ORPHA:217346 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair |
OMIM:616559 |
| Juvenile Arthritis |
|
Skin rash |
OMIM:618795 |
| Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow |
ORPHA:884 |
| Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
| Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
| Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Hypermelanotic macule |
OMIM:246200 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair |
OMIM:610756 |
| Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
| Fanconi Anemia, Complementation Group S |
|
Sparse hair, Long eyelashes, Low anterior hairline |
OMIM:617883 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the... |
ORPHA:324964 |
| Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous stomatitis, Ichth... |
ORPHA:575 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:616576 |
| 46,Xy Sex Reversal 6 |
|
Hirsutism, Sparse axillary hair |
OMIM:613762 |
| Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline |
ORPHA:284180 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails |
OMIM:242150 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Sparse hair, Synophrys, Low anterior hairline, Fine hair |
ORPHA:391408 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized hyperkeratosis, Generalized ichthyosis |
ORPHA:2269 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair |
OMIM:620001 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
| Meige Disease |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections |
ORPHA:90186 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
| Tonne-Kalscheuer Syndrome |
|
Fine hair, Small nail, Concave nail |
OMIM:300978 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chronic mucocutaneous candidiasis... |
OMIM:614868 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology |
ORPHA:659 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent otitis media, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia |
ORPHA:277 |
| Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis |
ORPHA:2583 |
| Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflammation of the large intestine |
OMIM:618108 |
| Noonan Syndrome 5 |
|
Sparse eyebrow, Curly hair, Small nail, Fine hair |
OMIM:611553 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Thickened skin, Ocular albinism, Melanocytic nevus, H... |
ORPHA:79430 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Sparse body hair |
ORPHA:2234 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair |
OMIM:268020 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection |
OMIM:158310 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Coarse hair, Brittle hair, Abnormality of hair texture |
OMIM:219200 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Follicular hyperkeratosis |
ORPHA:486815 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... |
OMIM:106260 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... |
OMIM:150400 |
| Costello Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Generalized hyperpigmentation |
ORPHA:3071 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Bronchiectasis, Atopic d... |
OMIM:243700 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Cheilitis, Abnormality of skin pigmentation, Hyperkeratosis, Inflammat... |
ORPHA:2908 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash |
OMIM:609628 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
| Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Eczema |
OMIM:177000 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Crusting erythematous dermatitis, Palmoplantar hyperkeratosis |
ORPHA:158673 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
| Hartnup Disease |
|
Skin rash, Irregular hyperpigmentation, Infectious encephalitis, Hypopigmented skin patches |
ORPHA:2116 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail |
OMIM:619721 |
| Joubert Syndrome 37 |
|
Sparse hair |
OMIM:619185 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Sparse hair, Nail dystrophy |
ORPHA:98813 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair |
OMIM:614105 |
| Incontinentia Pigmenti |
|
Skin rash, Keratitis, Hypopigmented skin patches, Uveitis, Abnormality of skin pigmentation, Hype... |
ORPHA:464 |
| Fetal Hydantoin Syndrome |
|
Coarse hair, Hypoplastic fingernail, Low posterior hairline |
ORPHA:1912 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema |
ORPHA:703 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair |
OMIM:618253 |
| Cutaneous Collagenous Vasculopathy |
|
Pruritus, Skin rash |
ORPHA:280779 |
| Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Fine hair |
OMIM:619428 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Inflammation of the large intestine |
OMIM:614576 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Recurrent pneumonia, Atopic dermatitis, Bronchiectasis, Chronic mucocu... |
OMIM:619752 |
| Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Low posterior hairline |
OMIM:613174 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Eczema, Hyperkeratosis, Multiple lentigines, Ichthyosis, Cafe-au-lait spot, Hyperpigmentation of ... |
OMIM:607721 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
| Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Sparse hair |
OMIM:616200 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Freckling, Membranoproliferative glomerulonephritis, Epidermal hyperkeratosis |
OMIM:137940 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... |
ORPHA:793 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Thick eyebrow |
ORPHA:127 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas |
OMIM:142680 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair |
OMIM:614091 |
| Lymphatic Filariasis |
|
Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Hyperkeratosis, H... |
ORPHA:2035 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis... |
ORPHA:436159 |
| Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair, Trichorrhexis nodosa |
OMIM:616395 |
| Estrogen Resistance |
|
Acanthosis nigricans, Acne |
OMIM:615363 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
| Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Eczema |
ORPHA:79278 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczema |
OMIM:300299 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera... |
ORPHA:79501 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke... |
ORPHA:158668 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Arthritis, Panniculitis, Conjunctivitis, Acanthosis nigricans |
OMIM:617591 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
| Xeroderma Pigmentosum |
|
Hypermelanotic macule, Keratitis, Thickened skin, Hypopigmented skin patches, Melanocytic nevus, ... |
ORPHA:910 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair |
OMIM:127550 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
| Immunodeficiency 55 |
|
Recurrent skin infections, Eczema, Ichthyosis |
OMIM:617827 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Blepharitis, Erythroderma |
OMIM:614328 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti... |
ORPHA:139402 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Fine hair |
OMIM:620250 |
| Cardiofaciocutaneous Syndrome 1 |
|
Atopic dermatitis, Hyperkeratosis, Multiple lentigines, Ichthyosis, Hyperpigmentation of the skin |
OMIM:115150 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands |
OMIM:300291 |
| Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
| Noonan Syndrome 14 |
|
Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline |
OMIM:619745 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly |
OMIM:610644 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair |
OMIM:219150 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... |
OMIM:614700 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperkeratosis, Hypomelanotic macule, Eczema |
OMIM:617052 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair |
OMIM:618810 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Pustule, Synovitis, Abnormal inflammat... |
ORPHA:77297 |
| Cardiofaciocutaneous Syndrome |
|
Generalized hyperpigmentation, Hyperkeratosis, Palmoplantar keratoderma, Multiple lentigines, Ich... |
ORPHA:1340 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema |
OMIM:617443 |
| Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema |
OMIM:615934 |
| Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
| Scarf Syndrome |
|
Sparse hair, Hypoplastic nipples, Low posterior hairline |
ORPHA:3134 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse hair, Nail dysplasia, Sparse eyelashes, Sparse eyebrow |
OMIM:613026 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Premature graying of hair, Alopecia, Nail dysplasia, Fine hair |
OMIM:613990 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail |
ORPHA:974 |
| Werner Syndrome |
|
Premature graying of hair, Hyperkeratosis, White forelock, Abnormality of retinal pigmentation |
ORPHA:902 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... |
ORPHA:37042 |
| Cranioectodermal Dysplasia 3 |
|
Sparse hair, Short nail, Broad nail, Fine hair |
OMIM:614099 |
| Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
| Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Fine hair |
OMIM:614438 |
| Centrifugal Lipodystrophy |
|
Lymphadenitis, Inflammatory abnormality of the skin |
ORPHA:90156 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease |
OMIM:616100 |
| Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
| Noonan Syndrome 7 |
|
Curly hair, Low posterior hairline |
OMIM:613706 |
| Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
| Noonan Syndrome 10 |
|
Hyperkeratosis, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:616564 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... |
ORPHA:2108 |
| Smith-Kingsmore Syndrome |
|
Curly hair |
OMIM:616638 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin |
ORPHA:542592 |
| Chops Syndrome |
|
Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow |
OMIM:616368 |
| Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
| Macs Syndrome |
|
Sparse hair, Alopecia, Sparse eyebrow |
OMIM:613075 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:612199 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:222470 |
| Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ... |
OMIM:615485 |
| Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha... |
ORPHA:2710 |
| Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Septic arthritis |
OMIM:612260 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism |
OMIM:617303 |
| Gaucher Disease, Perinatal Lethal |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis |
OMIM:608013 |
| Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
| Scarf Syndrome |
|
Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline |
OMIM:312830 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow |
OMIM:302960 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
| Ogden Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
| Noonan Syndrome 2 |
|
Hyperkeratosis, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:605275 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline |
OMIM:617360 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Coarse hair, Thick hair |
ORPHA:357074 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism |
OMIM:212066 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse... |
OMIM:617506 |
| Noonan Syndrome 4 |
|
Sparse eyebrow, Curly hair, High anterior hairline |
OMIM:610733 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
| Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
| Ramon Syndrome |
|
Hyperkeratosis, Juvenile rheumatoid arthritis, Pigmentary retinopathy |
OMIM:266270 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis |
OMIM:254090 |
| Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
| Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Abnormal hair pattern |
ORPHA:1786 |
| Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow |
ORPHA:585 |
| Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair |
ORPHA:457485 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... |
ORPHA:85436 |
| Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... |
OMIM:610984 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair |
OMIM:236200 |
| Marshall Syndrome |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Fine hair |
OMIM:614800 |
| Chronic Granulomatous Disease |
|
Sinusitis, Eczema, Hypermelanotic macule, Otitis media, Inflammatory abnormality of the eye |
ORPHA:379 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple, Fine hair |
ORPHA:1812 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown... |
ORPHA:79396 |
| Macrocephaly/Autism Syndrome |
|
Coarse hair |
OMIM:605309 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse hair, Aplasia of the sweat glands, Sparse scalp hair |
OMIM:612132 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
| Trisomy 20P |
|
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... |
ORPHA:261318 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
| Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
| Hyperzincemia With Functional Zinc Depletion |
|
Skin rash |
OMIM:601979 |
| Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Hypopigmented skin patches, Palmoplantar hyperkeratosis, Keratoconjunctivitis, I... |
ORPHA:2907 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair |
OMIM:616449 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
| Diamond-Blackfan Anemia 21 |
|
Synophrys, Coarse hair, Horizontal eyebrow, Widow's peak |
OMIM:620072 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
| Glass Syndrome |
|
Sparse hair, Long eyelashes, Nail dysplasia |
OMIM:612313 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair |
ORPHA:251028 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... |
ORPHA:1775 |
| Eec Syndrome |
|
Keratitis, Inflammatory abnormality of the eye, Hyperkeratosis, Generalized hypopigmentation, Ble... |
ORPHA:1896 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Hypermelanotic macule, Orchitis, Peritonitis, Uveit... |
ORPHA:32960 |
| Premature Aging Syndrome, Penttinen Type |
|
Hyperkeratosis, Thickened skin, Palmoplantar hyperkeratosis |
OMIM:601812 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis |
OMIM:620189 |
| Uremic Pruritus |
|
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections |
ORPHA:94059 |
| Teebi-Shaltout Syndrome |
|
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair |
OMIM:272950 |
| Weaver Syndrome |
|
Sparse hair, Thin nail, Deep-set nails, Fine hair |
OMIM:277590 |
| Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis |
ORPHA:2483 |
| Goldberg-Shprintzen Syndrome |
|
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow |
OMIM:609460 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia |
ORPHA:920 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:234100 |
| Schimke Immunoosseous Dysplasia |
|
Coarse hair, Fine hair |
OMIM:242900 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Long ... |
OMIM:601358 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hair, Thoracic hy... |
OMIM:618268 |
| Down Syndrome |
|
Sparse hair |
ORPHA:870 |
| Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Tiger tail banding, Alope... |
ORPHA:33364 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... |
OMIM:304110 |
| Mucopolysaccharidosis, Type Iiid |
|
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow |
OMIM:252940 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Fair hair, Eczema, Hyperkeratosis, Ichthyosis, Recurrent otitis media, Cafe-au-lait spot, Hypopig... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Fair hair, Eczema, Hyperkeratosis, Ichthyosis, Recurrent otitis media, Cafe-au-lait spot, Hypopig... |
ORPHA:363958 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture |
ORPHA:79351 |
| Fucosidosis |
|
Generalized hyperkeratosis |
ORPHA:349 |
| Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno... |
ORPHA:2909 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail |
OMIM:614813 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Skin rash, Pustule, Acute otitis media, Recurrent pneumonia, Chronic oral candidiasis, Hyperpigme... |
ORPHA:35078 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
| Koolen-De Vries Syndrome |
|
Fair hair, Abnormality of hair texture |
OMIM:610443 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
| B4Galt1-Cdg |
|
Inflammatory abnormality of the skin |
ORPHA:79332 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair |
OMIM:615349 |
| White-Sutton Syndrome |
|
Sparse hair |
OMIM:616364 |
| Agel Amyloidosis |
|
Sparse hair, Nail dystrophy |
ORPHA:85448 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Coarse hair, Nail dysplasia |
OMIM:612394 |
| Cerebellar-Facial-Dental Syndrome |
|
Sparse hair, Sparse eyebrow, Fine hair |
ORPHA:444072 |
| 2P15P16.1 Microdeletion Syndrome |
|
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair |
ORPHA:261349 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ... |
OMIM:186580 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sparse hair, Synophrys, Toenail dysplasia, Hirsutism |
OMIM:300966 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis |
OMIM:615510 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy |
ORPHA:436252 |
| Opitz-Kaveggia Syndrome |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:305450 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis |
OMIM:601701 |
| Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... |
ORPHA:90340 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sparse hair |
OMIM:616541 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Thickened skin, Abnormality of dermal melanosomes, Depigmentation/hyperpigmentation of skin, Epid... |
ORPHA:73223 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Sparse hair, Fine hair, Highly arched eyebrow, Low posterior hairline |
OMIM:613563 |
| Mucopolysaccharidosis, Type Vii |
|
Coarse hair, Thick eyebrow, Hirsutism |
OMIM:253220 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai... |
OMIM:129900 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair |
OMIM:614114 |
| Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis |
OMIM:109650 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
| Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Trichorrhexis nodosa |
ORPHA:84064 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis |
ORPHA:79280 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:2637 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy |
OMIM:614748 |
| Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis |
OMIM:602535 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Keratitis, ... |
OMIM:308205 |
| Monosomy 22 |
|
Sparse hair, Synophrys |
ORPHA:96123 |
| Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... |
ORPHA:221008 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Breast aplasia, Abnormal fingernail morphology |
ORPHA:2036 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Blepharitis |
ORPHA:294023 |
| Orofaciodigital Syndrome Type 1 |
|
Sparse hair, Alopecia, Coarse hair, Brittle hair |
ORPHA:2750 |
| Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Sparse eyebrow |
OMIM:244450 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Eczema, Keratitis, Cheilitis, Uveitis, Scleritis, Hyperkeratosis, Conjunctivitis, I... |
ORPHA:2273 |
| Lateral Meningocele Syndrome |
|
Coarse hair |
OMIM:130720 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation |
ORPHA:556 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Low anterior hairline, F... |
ORPHA:235 |
| Cowden Syndrome |
|
Hypopigmented skin patches, Melanocytic nevus, Palmoplantar keratoderma, Multiple cafe-au-lait sp... |
ORPHA:201 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Pancreatitis, Ichthyosis |
ORPHA:565612 |
| Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair |
OMIM:222700 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Sparse body hair, Breast hypoplasia |
ORPHA:432 |
| Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair |
OMIM:218330 |
| Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Sparse hair, Thin nail |
OMIM:617799 |
| Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... |
ORPHA:221016 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Blue irides, Hyperkeratosis, Generalized hypopigmentation, Fair hair, Blepharitis |
OMIM:604292 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Recurrent pneumonia, Chron... |
OMIM:102700 |
| Adrenomyeloneuropathy |
|
Frontal balding, Fine hair |
ORPHA:139399 |
| De Barsy Syndrome |
|
Sparse hair |
ORPHA:2962 |
| Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Brittle hair, Sparse hair |
OMIM:252500 |
| Reynolds Syndrome |
|
Pruritus, Scleroderma, Sclerodactyly, Erythema nodosum |
OMIM:613471 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair |
OMIM:300661 |
| Chime Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:3474 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Fine hair, Hypoplastic nipples, Sparse hair, Sparse lateral eyebrow |
OMIM:280000 |
| Stuve-Wiedemann Syndrome 1 |
|
Sparse hair |
OMIM:601559 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... |
ORPHA:444077 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
ORPHA:1401 |
| Mucopolysaccharidosis Type 3 |
|
Thick hair, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism |
ORPHA:581 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat... |
ORPHA:95455 |
| Cartilage-Hair Hypoplasia |
|
Sparse hair, Sparse eyebrow |
ORPHA:175 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair |
OMIM:619934 |
| Refractory Celiac Disease |
|
Inflammatory abnormality of the skin |
ORPHA:398063 |
| Fabry Disease |
|
Hyperkeratosis, Arthritis |
ORPHA:324 |
| Cockayne Syndrome B |
|
Sparse hair, Dry hair, Abnormal hair morphology |
OMIM:133540 |
| Mucolipidosis Type Ii |
|
Dry hair, White hair, Fine hair |
ORPHA:576 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Enterocolitis, Thyroidit... |
ORPHA:391487 |
| Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsut... |
ORPHA:955 |
| Kanzaki Disease |
|
Hyperkeratosis |
OMIM:609242 |
| Noonan Syndrome |
|
Abnormal hair quantity, Coarse hair, Low posterior hairline |
ORPHA:648 |
| Leprosy |
|
Hyperkeratosis, Iritis, Uveitis |
ORPHA:548 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Pneumonia |
ORPHA:26793 |
| Leprechaunism |
|
Acanthosis nigricans, Thickened skin, Hyperkeratosis |
ORPHA:508 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hairline, Long ... |
OMIM:619841 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Chronic hepatitis, Arthritis... |
ORPHA:3260 |
| Myhre Syndrome |
|
Sparse hair, Thick eyebrow, Fine hair |
OMIM:139210 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Sparse eyebrow, Hypoplastic nipples, Small nail, Nail dystrophy, Sparse hair |
OMIM:620186 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails |
OMIM:218040 |
| Cockayne Syndrome A |
|
Sparse hair, Dry hair |
OMIM:216400 |
| Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai... |
ORPHA:79474 |
| Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Low posterior hairline, Coars... |
OMIM:612289 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Th... |
OMIM:619950 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail |
OMIM:200110 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Recurrent pneumonia, Follicular hyperkeratosis |
OMIM:225400 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip... |
OMIM:305600 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Sparse hair |
OMIM:151050 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Sparse pubic hair, Sparse body hair, Sparse axillary hair |
ORPHA:90796 |
| Cranioectodermal Dysplasia 2 |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:613610 |
| Neurocardiofaciodigital Syndrome |
|
Sparse hair, Sparse eyebrow |
OMIM:619869 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Sparse hair |
OMIM:620005 |
| Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Thicke... |
ORPHA:744 |
| Renpenning Syndrome 1 |
|
Sparse hair, Brittle hair, Sparse lateral eyebrow |
OMIM:309500 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... |
ORPHA:449395 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Follicular hyperkeratosis |
OMIM:614557 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse hair, Nail dystrophy, Sparse eyebrow |
OMIM:619127 |
| 6Q Terminal Deletion Syndrome |
|
Hyperkeratosis |
ORPHA:75857 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture |
ORPHA:667 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:210710 |
| Occipital Horn Syndrome |
|
Coarse hair, Pili torti |
OMIM:304150 |
| Melnick-Needles Syndrome |
|
Coarse hair, Frontal hirsutism |
OMIM:309350 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sparse hair, Nail dysplasia |
OMIM:616682 |
| Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,... |
OMIM:135900 |
| Roberts Syndrome |
|
Sparse hair |
ORPHA:3103 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
| Distal Deletion 12Q |
|
Small nail, Fine hair |
ORPHA:96149 |
| Cockayne Syndrome Type 3 |
|
Premature graying of hair, Dry hair |
ORPHA:90324 |
| Restrictive Dermopathy |
|
Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye... |
ORPHA:1662 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sparse hair, Frontal hirsutism |
OMIM:617157 |
| Zttk Syndrome |
|
Sparse eyebrow, Curly hair, Broad eyebrow |
OMIM:617140 |
| Ogden Syndrome |
|
Sparse eyebrow, Long eyelashes, Fine hair |
OMIM:300855 |
| Occipital Horn Syndrome |
|
Coarse hair, Thick hair |
ORPHA:198 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Fine hair |
ORPHA:534 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Follicular hyperkeratosis |
ORPHA:536545 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Synophrys, Long eyel... |
OMIM:619503 |
| Cockayne Syndrome |
|
Dry hair, Fine hair |
ORPHA:191 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Thick eyebrow, Sparse hair, Alopecia of scalp, Fragile nails |
OMIM:150230 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse hair, Sparse scalp hair |
OMIM:606721 |
| Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... |
OMIM:619539 |
| Coffin-Lowry Syndrome |
|
Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow |
OMIM:303600 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
| Wrinkly Skin Syndrome |
|
Sparse hair, Short nail, Fragile nails |
OMIM:278250 |
| Menke-Hennekam Syndrome 1 |
|
Sparse hair, Long eyelashes, Thick eyebrow |
OMIM:618332 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Synophrys, Sparse hair, Hirsutism, Aplasia/Hypoplasia of the nails |
ORPHA:3455 |
| Warburg-Cinotti Syndrome |
|
Follicular hyperkeratosis |
OMIM:618175 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Sparse h... |
OMIM:113620 |
| Noonan Syndrome 1 |
|
Woolly hair, Low posterior hairline |
OMIM:163950 |
| Wrinkly Skin Syndrome |
|
Sparse hair |
ORPHA:2834 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Hyperconvex nail, Fine hair, High anterior hairline, Fragile nails |
OMIM:613406 |
| Restrictive Dermopathy 1 |
|
Epidermal hyperkeratosis |
OMIM:275210 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Curly hair, Broad lateral eyebrow |
ORPHA:500150 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Hypoplastic nipples, Hypertrichosis |
ORPHA:480880 |
| Primrose Syndrome |
|
Sparse scalp hair, Absent facial hair, Synophrys, Absent axillary hair, Dystrophic fingernails, S... |
OMIM:259050 |
| Liver Disease, Severe Congenital |
|
Dry hair, Nail dystrophy |
OMIM:619991 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair tex... |
ORPHA:286 |
| Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... |
OMIM:601803 |
| Roberts-Sc Phocomelia Syndrome |
|
Sparse hair |
OMIM:268300 |
| Alström Syndrome |
|
Frontal balding, Hirsutism, Fine hair |
ORPHA:64 |
