Central Centrifugal Cicatricial Alopecia |
|
Scarring alopecia of scalp |
OMIM:618352 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... |
OMIM:601705 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... |
OMIM:615598 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia |
ORPHA:69125 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Alopecia |
ORPHA:499 |
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 |
Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Interphalangeal joint contracture of finger, Hypergranulosis, Epi... |
ORPHA:2199 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis |
OMIM:101900 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism |
ORPHA:2812 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... |
ORPHA:2200 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis, Nail dystrophy, Ichthyosis |
ORPHA:79503 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosif... |
OMIM:613576 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperke... |
OMIM:148700 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Flexio... |
OMIM:614594 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dyst... |
OMIM:212360 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Atrophi... |
ORPHA:89838 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Alopecia, Multiple joint contractures, Thickened skin, Palmoplantar hyperkeratosis... |
ORPHA:100976 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Hyperk... |
OMIM:602400 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
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 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp... |
ORPHA:79395 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Hypohidrosis, Hyperke... |
OMIM:242100 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplas... |
OMIM:226650 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... |
ORPHA:79397 |
Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia, Scarring |
OMIM:247100 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Hypothy... |
OMIM:618625 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Atrophic scars, Nail dystrophy |
OMIM:131850 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis |
ORPHA:498359 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail |
ORPHA:2251 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... |
ORPHA:90368 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Alopecia, Flexion contracture, Palmoplantar hyperkeratosis, Congenital ichthyosifo... |
OMIM:242300 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Hypohidrosis, Palmoplantar keratoderma, Ichthyosis, Abnormality of the nail |
ORPHA:79394 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... |
ORPHA:494 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Hypohidrosis, Ichthyosis |
ORPHA:461 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Joint contracture |
OMIM:615704 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... |
ORPHA:169154 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... |
ORPHA:2457 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hirsutism, Hy... |
ORPHA:317 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes |
ORPHA:3363 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Hypohidrosis, Nai... |
OMIM:617337 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... |
ORPHA:79153 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... |
ORPHA:1028 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti |
OMIM:607903 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Anhidrosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyo... |
OMIM:606545 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Sm... |
OMIM:610644 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Flexion contracture, Ichthyosis, Sparse body hair, Aplasia/Hypoplasi... |
ORPHA:2850 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... |
OMIM:258360 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho... |
OMIM:257980 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Anemia |
ORPHA:337 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Co... |
OMIM:612281 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Hyperkeratosis, Atrophic scars, Nail dystrophy, Abnormal toenail morphology |
ORPHA:89843 |
Bazex Syndrome |
|
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Acanthosis... |
ORPHA:166113 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Thickened skin, Palmoplantar keratoderma, P... |
ORPHA:659 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... |
OMIM:612526 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... |
OMIM:615023 |
Classic Mycosis Fungoides |
|
Splenomegaly, Alopecia, Abnormal lymphocyte morphology, Abnormality of the nail |
ORPHA:2584 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse... |
OMIM:604536 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Alopecia, Anemia |
ORPHA:100025 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis,... |
OMIM:615821 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair, Hyperhidrosis |
OMIM:615279 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Corneal scarring, Absent... |
OMIM:148210 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital... |
OMIM:607602 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... |
OMIM:612843 |
Acrokeratoelastoidosis Of Costa |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratotic papule, Palmar hyper... |
ORPHA:38 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow |
ORPHA:3406 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Aplasia/Hypoplasia ... |
ORPHA:2930 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Al... |
OMIM:615559 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Camptodactyly of finger, Hyperkeratosis, Coarse hair, Joint contracture of the 5th ... |
ORPHA:1883 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula... |
OMIM:613102 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Hypohidrosis, Hyperkeratosis, Ichthyosis, Sparse hai... |
ORPHA:1005 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Palmoplantar hyper... |
ORPHA:3253 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617571 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Atypical scarring of skin, Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis |
ORPHA:1366 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
Acquired Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
ORPHA:454 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Hyperker... |
OMIM:610768 |
Ramon Syndrome |
|
Hyperkeratosis, Abnormal dental enamel morphology, Generalized hirsutism |
ORPHA:3019 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax... |
ORPHA:2269 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Hypohidrosis, Ichthyosis |
ORPHA:281090 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Alopecia, Increased mean platelet volume |
OMIM:617443 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Dorsocervical fat pad, Increased circulating cortisol level, Primary hypercortisolism, ... |
OMIM:615830 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
Proteus Syndrome |
|
Lipoma, Hyperkeratosis, Multiple lipomas |
OMIM:176920 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Hypohidrosis, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Lichen Planopilaris |
|
Hyperkeratosis, Alopecia, Onycholysis, Abnormal fingernail morphology |
ORPHA:525 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair |
ORPHA:3051 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Xerostomia, Hypohidrosis, Hyperkeratosis, Aplasia/Hypo... |
ORPHA:238468 |
Atrophoderma Vermiculata |
|
Atrophic scars, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... |
OMIM:608612 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Flexion contracture, Ichthyosis |
OMIM:215100 |
Omenn Syndrome |
|
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Aplasia/Hypoplasia of the eyebrow, Abnormal l... |
ORPHA:39041 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair, Ichthyosis, O... |
OMIM:607626 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... |
OMIM:248370 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... |
OMIM:603554 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Corneal scarring, Hypohidrosis, Hyperkeratosis, Frontal upsweep of hair, Broad eyebrow |
OMIM:301220 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar keratoderma, Nail... |
OMIM:615726 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Abnormal dental enamel morphology, Trichiasis, Hypohidrosis, Atypical scarring of... |
OMIM:601701 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Nail pits, Anemia, Leukopenia, Premature graying of hair,... |
OMIM:127550 |
Sézary Syndrome |
|
Splenomegaly, Alopecia, Abnormal lymphocyte morphology, Nail dystrophy |
ORPHA:3162 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Hereditary Bullous Dystrophy, Macular Type |
|
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia |
ORPHA:1867 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Abnormal fingernail morphology, Primary adrenal insufficiency, Incr... |
ORPHA:3453 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail, Hyperhidrosis |
ORPHA:28378 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Flexion contracture, Absence of subcutaneous fat, Fine hair, Hyperke... |
OMIM:601675 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Hernia, Follicular hyperkeratosis |
ORPHA:300179 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dyst... |
OMIM:308800 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair |
ORPHA:2316 |
Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis |
ORPHA:816 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... |
OMIM:605676 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma |
ORPHA:312 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair, Ichthyosis |
ORPHA:177 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Toenail dysplasia, Cellulitis |
OMIM:615907 |
Lipoid Proteinosis |
|
Hyperkeratosis, Thickened skin, Alopecia of scalp, Scarring |
ORPHA:530 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Enamel hypoplasia, Anonychia |
OMIM:616029 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Abse... |
ORPHA:90156 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Central adrenal insufficiency, Alopecia, Limb joint contracture, Reduced subcutaneous adipose tissue |
OMIM:612079 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Lamellar Ichthyosis |
|
Hyperkeratosis, Ichthyosis, Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow |
ORPHA:313 |
Leopard Syndrome 3 |
|
Hyperkeratosis, Curly hair, Low posterior hairline, Epidermal hyperkeratosis |
OMIM:613707 |
Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... |
OMIM:308300 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar hyperkeratosi... |
OMIM:167210 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Ne... |
OMIM:304790 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
Ichthyosis Prematurity Syndrome |
|
Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis |
OMIM:608649 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail |
OMIM:609638 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Nail dystrophy |
OMIM:618373 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... |
OMIM:137940 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Leukopenia, Nail d... |
OMIM:613990 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hyperkeratosis, Hypertrichosis, Ichthyosis |
OMIM:612379 |
Donohue Syndrome |
|
Adipose tissue loss, Hyperkeratosis, Pancreatic islet-cell hyperplasia, Nail dysplasia, Acanthosi... |
OMIM:246200 |
Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neutropenia |
OMIM:615387 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Palmoplantar keratoderma, Ichthyosis, Sparse hair, Fragile nails |
OMIM:242150 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow |
ORPHA:3242 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Premature graying of hair, S... |
ORPHA:363618 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Flexion contracture, Camptodactyly |
ORPHA:88630 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Lipodystrophy, Hernia, Ichthyosis, S... |
ORPHA:168569 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Inguinal hernia, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Jo... |
OMIM:614457 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:133200 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, Concave nail, ... |
ORPHA:3071 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppre... |
ORPHA:189427 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal hair morphology, Hyperlipidemia, Generalized lipodystrophy, Nail dystrophy |
ORPHA:90154 |
Fucosidosis |
|
Generalized hyperkeratosis, Lipoatrophy, Hyperhidrosis, Hypothyroidism, Abnormality of the nail |
ORPHA:349 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, Supernumerary nipple... |
ORPHA:464 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Fol... |
OMIM:616295 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:47 |
Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Low anterior hairline, Hyperkeratosis, Palmoplantar keratoderma, ... |
ORPHA:742 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... |
OMIM:158310 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
Chilblain Lupus |
|
Hyperkeratosis |
ORPHA:90280 |
Alstrom Syndrome |
|
Alopecia, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Acanthosis... |
OMIM:203800 |
Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia |
ORPHA:79242 |
Netherton Syndrome |
|
Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow, Congenital no... |
OMIM:256500 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Follicular hyperkeratosis |
OMIM:615147 |
Werner Syndrome |
|
Sparse scalp hair, Lipodystrophy, Lipoatrophy, Abnormal hair whorl, Premature graying of hair, Hy... |
ORPHA:902 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Bresek Syndrome |
|
Alopecia, Ichthyosis |
ORPHA:85284 |
Flynn-Aird Syndrome |
|
Alopecia, Primary adrenal insufficiency |
ORPHA:2047 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Enamel hypoplasia, Hypohidrosis |
OMIM:614576 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans |
OMIM:618527 |
Noonan Syndrome 8 |
|
Hyperkeratosis, Curly hair |
OMIM:615355 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis |
ORPHA:158681 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis |
OMIM:615225 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Flexion contracture, Bre... |
ORPHA:90153 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Lipoatrophy, Decreased response to growth hormone stimulat... |
ORPHA:157954 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernail, Sparse hair, Thrombocytope... |
ORPHA:974 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scarring, Hypohidrosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Spar... |
ORPHA:158668 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Inguinal hernia, Absent eyelashes, Small nail, Ichthyosis |
ORPHA:166035 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Hypertriglyceridemia, Congenital nonbullous ichthyosiform erythroderma |
ORPHA:98907 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis |
OMIM:602723 |
Kury-Isidor Syndrome |
|
Alopecia, Hypertrichosis |
OMIM:619762 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Alopecia, Nail dystrophy, Anemia |
OMIM:175500 |
Monosomy 18P |
|
Alopecia, Hypothyroidism, Low posterior hairline |
ORPHA:1598 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Flexion contracture, Follicular hyperkeratosis, Hyperhidrosis |
OMIM:254090 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline, Adrenal insufficiency, Hypohidrosis |
OMIM:615510 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis |
ORPHA:457 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis |
OMIM:613736 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Sparse hair, Ichthyosis, Orthokeratosis |
OMIM:615508 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Palmoplantar kera... |
OMIM:604173 |
Lichen Planus Pemphigoides |
|
Hyperkeratosis, Abnormality of the nail |
ORPHA:254478 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Hyperhid... |
OMIM:115150 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Joint contracture, Follicular hyperkeratosis |
OMIM:617066 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Eec Syndrome |
|
Slow-growing hair, Decreased response to growth hormone stimulation test, Abnormal dental enamel ... |
ORPHA:1896 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Primary adrenal insufficiency, Steatorrhea, Hypothyroidism, Exocrine p... |
OMIM:269200 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... |
OMIM:604777 |
Irida Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Decreased circulating aldosterone level, Primary adrenal insufficie... |
OMIM:240300 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
ORPHA:409 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Alopecia |
OMIM:235200 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... |
ORPHA:1775 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline, Fine hair, ... |
ORPHA:1340 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... |
ORPHA:158687 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Nail dysplasia, Alopecia, Nail dystrophy, Anemia |
OMIM:226600 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test |
OMIM:601853 |
Short Syndrome |
|
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Sparse hair |
ORPHA:3163 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis |
OMIM:618531 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Alopecia, Low posterior hairline, Microcytic anemia |
ORPHA:2959 |
Macs Syndrome |
|
Alopecia, Sparse eyebrow, Ichthyosis, Sparse hair, Umbilical hernia |
OMIM:613075 |
Kid Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Hypohidrosis, Knee flexion contract... |
ORPHA:477 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Follicular hyperkeratosis |
ORPHA:486815 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis |
ORPHA:83453 |
Bone Marrow Failure Syndrome 3 |
|
Amelogenesis imperfecta, Hyperkeratosis, Nail dystrophy, Small nail, Hernia, Sparse hair, Enamel ... |
OMIM:617052 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse hair |
OMIM:613451 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela... |
ORPHA:544488 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Dowling-Degos Disease |
|
Hyperkeratosis, Hyperkeratotic papule, Abnormal fingernail morphology |
ORPHA:79145 |
Bethlem Myopathy |
|
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
ORPHA:610 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Coarse hair, Sparse hair |
OMIM:118650 |
Sialidosis Type 1 |
|
Hyperkeratosis, Hernia |
ORPHA:812 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombocytopenia, Nail dystrophy... |
ORPHA:293978 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Alopecia, Flexion contracture, Hyperkeratosis, Congenital ichthyosiform erythroder... |
OMIM:308050 |
Chromomycosis |
|
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule, Atypical scarring of skin |
ORPHA:182 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Thyroiditis, Enamel hypoplasia, Steatorrhea |
OMIM:212750 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism, Abnormal adipose tissue morphology |
ORPHA:93160 |
Lymphatic Malformation 12 |
|
Hyperkeratosis, Inguinal hernia |
OMIM:620014 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of... |
ORPHA:37 |
Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Thickened skin, Palmoplantar hyperkeratosis, Hyperkeratosis, Sparse hair, Keloids, J... |
OMIM:601812 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Alopecia, Absent eyebrow, Sparse scalp hair, I... |
OMIM:308205 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia |
ORPHA:85279 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia |
OMIM:253270 |
Milroy Disease |
|
Hyperkeratosis, Toenail dysplasia, Cellulitis |
ORPHA:79452 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Thickened skin, Loss of eyelashes, Corneal scarring, Atypical scarring ... |
OMIM:263700 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy, Anemia |
OMIM:620040 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode... |
OMIM:106260 |
Mixed Connective Tissue Disease |
|
Splenomegaly, Leukopenia, Alopecia, Hemolytic anemia |
ORPHA:809 |
Mogs-Cdg |
|
Alopecia, Thrombocytopenia, Hepatosplenomegaly, Long eyelashes, Fair hair, Hirsutism |
ORPHA:79330 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis |
ORPHA:36386 |
Systemic Sclerosis |
|
Alopecia, Nail bed telangiectasia, Thickened skin, Flexion contracture, Hypohidrosis, Sclerodactyly |
ORPHA:90291 |
Adrenoleukodystrophy |
|
Alopecia, Primary adrenal insufficiency |
OMIM:300100 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia |
ORPHA:1647 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... |
ORPHA:35173 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Hypohidrosis, Hyperkeratosis, Sparse body hair |
ORPHA:548 |
Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern, Anemia |
ORPHA:2315 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Alopecia, Widened atrophic scar, Hypertriglyceridemia, Inguinal hernia, Celluliti... |
ORPHA:536532 |
Leprechaunism |
|
Facial hypertrichosis, Reduced subcutaneous adipose tissue, Thickened skin, Central hypothyroidis... |
ORPHA:508 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Broad nail, Hyperkeratosis, Ab... |
ORPHA:1334 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Inguinal hernia, Hyperkeratosis, Loose anagen hair, Long eyelashes... |
OMIM:607721 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Hypertriglyceridemia, Lipoatrophy, Abnormal hair morphology, Ab... |
ORPHA:79474 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Absent eyebrow, Alopecia, Thin fingernail, Inguinal hernia, Abnormal dental enamel m... |
ORPHA:2273 |
Giant Cell Arteritis |
|
Alopecia, Hyperhidrosis |
ORPHA:397 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Umbilical hernia |
ORPHA:2067 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Alopecia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in ... |
ORPHA:37042 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Ichthyosis |
OMIM:163200 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis |
OMIM:615577 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Decreased circulating cortisol level, Hirsutism |
ORPHA:90795 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis |
OMIM:618084 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Alopecia totalis, Abnormal dental enamel... |
ORPHA:2909 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera... |
ORPHA:79501 |
Encephalocraniocutaneous Lipomatosis |
|
Lipoma, Alopecia, Multiple central nervous system lipomas, Subcutaneous lipoma |
OMIM:613001 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Alopecia totalis, Thrombocytopenia |
OMIM:618775 |
Neonatal Lupus Erythematosus |
|
Hyperkeratosis, Parakeratosis |
ORPHA:398124 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Flexion contracture |
OMIM:609180 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Scarring, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Enamel hypoplasia, ... |
ORPHA:79396 |
Colchicine Poisoning |
|
Alopecia, Leukocytosis |
ORPHA:31824 |
Psoriasis 14, Pustular |
|
Parakeratosis, Nail dystrophy |
OMIM:614204 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
Leigh Syndrome |
|
Alopecia, Neutropenia, Frontal hirsutism, Anemia, Hypertrichosis |
ORPHA:506 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Lipoatrophy, Sparse eyebrow, Flexion contracture, ... |
OMIM:614008 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasi... |
ORPHA:69085 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the s... |
ORPHA:227990 |
Focal Dermal Hypoplasia |
|
Omphalocele, Alopecia, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmat... |
ORPHA:2092 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Hyperlipidemia, Fine hair |
OMIM:241080 |
Noonan Syndrome 2 |
|
Curly hair, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Arthrogryposis multiplex cong... |
OMIM:605275 |
Gaucher Disease, Perinatal Lethal |
|
Hyperkeratosis, Arthrogryposis multiplex congenita, Congenital nonbullous ichthyosiform erythrode... |
OMIM:608013 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Inguinal hernia, Sparse eyelashes, Decreased response to growth hormone stimul... |
OMIM:129900 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the s... |
ORPHA:227982 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Abnormal dental enamel morphology, Spars... |
ORPHA:221008 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Alopecia, Sparse eyelashes, Pteryg... |
OMIM:305000 |
Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Secondary hyperparathyroidism, Alopecia universalis |
OMIM:277440 |
Biotinidase Deficiency |
|
Splenomegaly, Alopecia |
OMIM:253260 |
Distal Deletion 19P |
|
Alopecia, Vaginal hernia, Umbilical hernia, Keloids, Thick eyebrow |
ORPHA:96129 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Thickened skin, Hyperkeratosis, Long... |
ORPHA:79430 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... |
ORPHA:2108 |
Fabry Disease |
|
Hyperkeratosis, Hyperlipidemia, Hypohidrosis |
ORPHA:324 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Decreased response to growth hormone stimulation test, Spars... |
OMIM:604292 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Lipoma, Hyperkeratosis, Pilomatrixoma |
OMIM:620189 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Hyperkeratosis, Curly hair |
OMIM:616564 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis |
OMIM:133190 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Abse... |
OMIM:263650 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Thickened skin, Fine hair, Hypohidrosis, Multiple lipoma... |
OMIM:181270 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Parakeratosis |
ORPHA:284426 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Hyperlipidemia, Hypothyroidism, ... |
ORPHA:3464 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Abnormal dental enamel morphology, Spars... |
ORPHA:221016 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia |
ORPHA:50918 |
Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis |
ORPHA:163525 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Alopecia, Hirsutism, Thrombocytopenia |
ORPHA:2298 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis |
ORPHA:64745 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni... |
OMIM:302960 |
Chime Syndrome |
|
Sparse hair, Hyperkeratosis, Fine hair, Ichthyosis |
ORPHA:3474 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Hypertriglyceridemia, Alo... |
OMIM:264090 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Fasciitis, Thickened skin, Flexion contracture, Patchy alopecia,... |
ORPHA:90289 |
Acute Radiation Syndrome |
|
Hyperkeratosis |
ORPHA:454831 |
Xeroderma Pigmentosum |
|
Hyperkeratosis, Thickened skin, Alopecia |
ORPHA:910 |
Familial Keratoacanthoma |
|
Hyperkeratosis |
ORPHA:493 |
Reactive Arthritis |
|
Hyperkeratosis, Dystrophic fingernails, Abnormality of the nail, Enthesitis |
ORPHA:29207 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Decreased response to growth hormone stimulation test, Primary adrenal insufficiency, H... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Primary adrenal insufficiency, H... |
ORPHA:363958 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hyperkeratosis |
OMIM:612852 |
Systemic Lupus Erythematosus |
|
Leukopenia, Alopecia, Hemolytic anemia, Thrombocytopenia |
ORPHA:536 |
Meige Disease |
|
Atypical scarring of skin, Cobblestone-like hyperkeratosis, Cellulitis |
ORPHA:90186 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Abnormal dental enamel morphology, Coarse hair, Sparse hair, Exocrine pan... |
ORPHA:2750 |
Phakomatosis Pigmentokeratotica |
|
Patchy alopecia, Hyperhidrosis |
ORPHA:2874 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Multiple lipomas, Alopecia, Lipodystrophy |
ORPHA:2396 |
Biotinidase Deficiency |
|
Alopecia |
ORPHA:79241 |
Ramon Syndrome |
|
Hyperkeratosis, Hypertrichosis |
OMIM:266270 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... |
ORPHA:73223 |
Autosomal Recessive Robinow Syndrome |
|
Alopecia, Inguinal hernia, Camptodactyly of finger, Long eyelashes, Fingernail dysplasia, Umbilic... |
ORPHA:1507 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Inguinal hernia, Femoral hernia, Camptodactyly of finger, Curly eyelashes, Long eyelash... |
ORPHA:3107 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Abscess, ... |
ORPHA:125 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Leukocytosis |
OMIM:619321 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia |
ORPHA:2612 |
Mycetoma |
|
Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair, Enamel hypoplasia |
OMIM:311200 |
Steinert Myotonic Dystrophy |
|
Alopecia, Abnormality of thyroid physiology, Decreased response to growth hormone stimulation tes... |
ORPHA:273 |
Juvenile Dermatomyositis |
|
Alopecia |
ORPHA:93672 |
Kindler Epidermolysis Bullosa |
|
Abnormal dental enamel morphology, Camptodactyly of finger, Flexion contracture, Atypical scarrin... |
ORPHA:2908 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... |
OMIM:210710 |
Chronic Graft Versus Host Disease |
|
Alopecia, Fasciitis, Thickened skin, Flexion contracture, Xerostomia, Onycholysis, Nail dystrophy... |
ORPHA:99921 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail, Anemia |
ORPHA:79404 |
Sympathetic Ophthalmia |
|
Alopecia, Poliosis |
ORPHA:79098 |
Restrictive Dermopathy |
|
Multiple joint contractures, Short nail, Camptodactyly of finger, Epidermal hyperkeratosis, Spars... |
ORPHA:1662 |
6Q Terminal Deletion Syndrome |
|
Hyperkeratosis, Low anterior hairline, Highly arched eyebrow |
ORPHA:75857 |
Sarcoidosis |
|
Hemolytic anemia, Alopecia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocyto... |
ORPHA:797 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Synophrys, Atypical scarring of skin, Follicular hyperkeratosis, Umbilical hernia |
ORPHA:536545 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Umbilical hernia, Inguinal hernia, Atrophic scars, Follicular hyperkeratosis |
OMIM:614557 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Increased circulating gonadotropi... |
ORPHA:99413 |
Turner Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Increased circulating gonadotropi... |
ORPHA:881 |
Mosaic Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Increased circulating gonadotropi... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Increased circulating gonadotropi... |
ORPHA:99226 |
Lymphatic Filariasis |
|
Orchitis, Hyperkeratosis |
ORPHA:2035 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Multiple lipomas, Hyperparakeratosis, Lipoatrophy |
ORPHA:276280 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Small nail |
OMIM:100300 |
Behcet Syndrome |
|
Patchy alopecia |
OMIM:109650 |
Restrictive Dermopathy 1 |
|
Sparse eyelashes, Short nail, Limb joint contracture, Epidermal hyperkeratosis, Absent eyelashes,... |
OMIM:275210 |
African Trypanosomiasis |
|
Abnormal prolactin level, Alopecia, Abnormality of circulating cortisol level |
ORPHA:3385 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis |
OMIM:278800 |
Relapsing Polychondritis |
|
Alopecia |
ORPHA:728 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Parakeratosis, Coarse hair, Ingui... |
ORPHA:83617 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis |
ORPHA:79280 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Inguinal hernia, Follicular hyperkeratosis |
OMIM:225400 |
Ring Chromosome 13 Syndrome |
|
Alopecia, Primary hypothyroidism |
ORPHA:96176 |
Cowden Syndrome |
|
Lipoma, Palmoplantar keratoderma, Generalized hyperkeratosis |
ORPHA:201 |
Pallister-Killian Syndrome |
|
Omphalocele, Sparse scalp hair, Alopecia, Anhidrosis, Sparse eyelashes, Inguinal hernia, Supernum... |
OMIM:601803 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Loss of eyelashes, Absence of subcutaneous fat, Patchy alopecia... |
ORPHA:740 |
Proteus Syndrome |
|
Abnormal dental enamel morphology, Thickened skin, Abnormal subcutaneous fat tissue distribution,... |
ORPHA:744 |
Kanzaki Disease |
|
Hyperkeratosis |
OMIM:609242 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Inguinal hernia, Hypothyroidism, Umbilical hernia, Contracture of th... |
OMIM:619472 |
Focal Dermal Hypoplasia |
|
Ridged nail, Omphalocele, Inguinal hernia, Brittle hair, Supernumerary nipple, Congenital diaphra... |
OMIM:305600 |
Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Follicular hyperkeratosis, Flexion contract... |
OMIM:618175 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Inguinal hernia, Abnormality of hair texture, Abnormal eyelash morphology, Cigarette-pa... |
ORPHA:286 |