Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Central Centrifugal Cicatricial Alopecia |
|
Scarring alopecia of scalp |
OMIM:618352 |
Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
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 |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
Hypotrichosis 3 |
|
Sparse scalp hair |
OMIM:613981 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 14 |
|
Sparse hair, Sparse body hair |
OMIM:618275 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, Nail pits |
ORPHA:169095 |
Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... |
OMIM:605389 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Alopecia, Sparse hair |
OMIM:212835 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Lanuginosa Congenita |
|
Double eyebrow, Congenital, generalized hypertrichosis |
OMIM:145700 |
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Parc Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes |
OMIM:600331 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair |
OMIM:617294 |
Hypotrichosis 10 |
|
Sparse eyelashes, Sparse eyebrow, Sparse body hair |
OMIM:614238 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... |
ORPHA:2722 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Hypotrichosis 7 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:604379 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, Nail pits |
OMIM:601705 |
Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Alopecia, Woolly scalp hair, Woolly hair |
OMIM:601217 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Lumbar hypertrichosis, Sacral hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair |
OMIM:614931 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:202 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair |
ORPHA:1008 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Pseudopelade Of Brocq |
|
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... |
ORPHA:129 |
Quinquaud Folliculitis Decalvans |
|
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp |
ORPHA:346 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Nail dystrophy, Sparse hair |
OMIM:300652 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... |
OMIM:613573 |
Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... |
ORPHA:573 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... |
ORPHA:248 |
Deafness-Craniofacial Syndrome |
|
Alopecia |
OMIM:125230 |
Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
Porphyria Cutanea Tarda |
|
Alopecia, Facial hypertrichosis, Onycholysis |
OMIM:176100 |
Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Nail dystrophy, Alopecia |
OMIM:618373 |
Woolly Hair, Autosomal Dominant |
|
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair |
OMIM:194300 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Nail dystrophy, Alopecia, Sparse hair |
OMIM:616353 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Uncombable Hair Syndrome 3 |
|
Curly hair, Pili canaliculi, Uncombable hair |
OMIM:617252 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Growth delay, Alopecia, Nail dysplasia, Hypohidrosis, Pulmonary fibrosis, Erysipelas, Delayed pub... |
OMIM:615704 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Nail... |
OMIM:614594 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234030 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia |
OMIM:614564 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Alopecia, Chronic mucocutaneous candidiasis,... |
OMIM:618282 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... |
OMIM:616099 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair |
OMIM:104100 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Moynahan Syndrome |
|
Alopecia, Sparse hair |
ORPHA:2574 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Erythroderma, Short stature, Pruritus, Palmoplantar keratoderma, Alopecia, Abnormality of the nai... |
ORPHA:79394 |
Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... |
OMIM:129500 |
Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Short stature, Alopecia, Generalize... |
ORPHA:317 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
Classic Mycosis Fungoides |
|
Eczema, Pruritus, Edema, Alopecia, Skin rash, Abnormality of the nail, Hyperkeratosis |
ORPHA:2584 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Sparse ... |
ORPHA:1882 |
Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow |
OMIM:607655 |
Pili Torti-Onychodysplasia Syndrome |
|
Eczema, Keloids, Brittle hair, Palmoplantar keratoderma, Alopecia, Absent eyelashes, Absent eyebr... |
ORPHA:2890 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Palmoplantar keratoderma, Severe sh... |
ORPHA:2251 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Oliver-Mcfarlane Syndrome |
|
Long eyebrows, Sparse hair, Long eyelashes, Alopecia |
OMIM:275400 |
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair |
OMIM:164680 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Nail dystrophy, Alopecia, Nail dysplasia, Palmar hyperkeratosis, Plantar h... |
ORPHA:79397 |
Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar keratoderma, Parakeratosis, Woolly hair, Perioral hyperkeratosis, Hyperker... |
OMIM:619208 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Bathing Suit Ichthyosis |
|
Erythroderma, Nail dystrophy, Alopecia, Parakeratosis, Hypohidrosis, Multiple joint contractures,... |
ORPHA:100976 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia, Camptodactyly of finger, Hyperkeratosis, Palmop... |
OMIM:212360 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Nail dystrophy, Alopecia, Parakeratosis, Nail dysplasia, Flexion contracture, Spars... |
OMIM:242300 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Small nail, Abnormal hair morphology, Growth delay, Thin nail, Palmoplantar keratoderma, Alopecia... |
OMIM:242100 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Recurrent sinopulmonary infections, Alopecia, Recurrent skin infections, Recurren... |
OMIM:616576 |
Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp, Hyperkeratosis |
OMIM:136300 |
Pseudoprogeria Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair |
ORPHA:2985 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
Sézary Syndrome |
|
Erythroderma, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Alopecia, Edema, Abnormal pleur... |
ORPHA:3162 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplasia |
OMIM:607823 |
Schöpf-Schulz-Passarge Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia |
ORPHA:50944 |
Idiopathic Trachyonychia |
|
Ridged nail, Fingernail dysplasia, Thin nail, Nail dystrophy, Circumungual hyperkeratosis, Fragil... |
ORPHA:79153 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Abnormal toenail morphology, Abnormality of the nail, Honeycomb palmoplantar hyperkerat... |
ORPHA:494 |
Lichen Planopilaris |
|
Onycholysis, Pruritus, Alopecia, Hyperkeratosis, Abnormal fingernail morphology |
ORPHA:525 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Folliculitis, Nail dystrophy, Palmoplantar keratoderma, Alopecia, Scarring alop... |
OMIM:612843 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair |
ORPHA:2850 |
Hypotrichosis 6 |
|
Sparse eyelashes, Pruritus, Brittle hair, Follicular hyperkeratosis, Pili torti, Sparse and thin ... |
OMIM:607903 |
Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Pulmonary fibrosis, Hyperkeratosis, Recurrent respiratory infections, Sparse... |
ORPHA:1839 |
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Sparse and thin eyebrow, Sparse eyelashes, Abnormality of the nail, Alopecia |
OMIM:129540 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Reduced subcutaneous adipose tissue, Delayed puberty, Flexion contracture |
OMIM:612079 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Fingernail dysplasia, Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse scal... |
ORPHA:2325 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Short stature, Alopecia |
OMIM:617763 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Alopecia of scalp, Sparse eyebrow, Absent pubic hair, Absent axillar... |
ORPHA:2269 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Severe postnatal growth retardation, Alopecia, Generalized hypoplasia of dental enamel, Severe sh... |
OMIM:203550 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Nail dystrophy, Palmoplantar keratoderma, Alopecia, Parakeratosis, Orthokeratosis, Honeycomb palm... |
ORPHA:79395 |
Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Eczema, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, ... |
ORPHA:3051 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Erythroderma, Short stature, Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, Inguinal... |
OMIM:308205 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Neoplasm of the lung, Palmoplantar keratoderma, Alopecia, Anhidrosis, Abnormal fingernail morphol... |
ORPHA:659 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Fine hair, Alopecia of scalp, Pruritus, Parakeratosis, Slow-growing scalp hair... |
ORPHA:90368 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Hyperkeratos... |
OMIM:300918 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Moderate postnatal growth retardation, Intrauterine growth retardation, Alopecia, Abnormal dental... |
ORPHA:1005 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Epidermal hyperkeratosis, Pulmonary lymphangiectasia, Sparse eyelashes, Alopecia, Reduced subcuta... |
OMIM:137940 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Highly arched eyebrow, Dystrophic fingernails, Dystrophic toenail, Sparse lateral eyebrow, Nail d... |
ORPHA:3253 |
Pachyonychia Congenita |
|
Onychogryposis of fingernail, Fingernail dysplasia, Nail dystrophy, Linear arrays of macular hype... |
ORPHA:2309 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ha... |
OMIM:613102 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Ascites, Alopecia, Absent eyebrow, Absent eyelashes, Palpebral edema, Sparse scalp hair, Pleural ... |
ORPHA:69735 |
Bazex Syndrome |
|
Liposarcoma, Lung adenocarcinoma, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Yellow nail... |
ORPHA:166113 |
Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... |
ORPHA:251393 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Absence of subcutaneous fa... |
ORPHA:90156 |
Cronkhite-Canada Syndrome |
|
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Hypoplastic toenails, Abno... |
ORPHA:2930 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
Hypervitaminosis A, Susceptibility To |
|
Alopecia totalis |
OMIM:240150 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
Hereditary Bullous Dystrophy, Macular Type |
|
Growth delay, Pneumonia, Short stature, Nail dystrophy, Alopecia, Atrichia, Congenital abnormal h... |
ORPHA:1867 |
Alpha-Heavy Chain Disease |
|
Alopecia, Growth delay, Ascites |
ORPHA:100025 |
Omenn Syndrome |
|
Eosinophilia, Erythroderma, Pneumonia, Pruritus, Edema, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Netherton Syndrome |
|
Fine hair, Eczema, Sparse eyelashes, Erythroderma, Abnormal hair morphology, Short stature, Spars... |
ORPHA:634 |
X-Linked Agammaglobulinemia |
|
Short stature, Recurrent cutaneous abscess formation, Alopecia, Recurrent pneumonia, Skin rash, A... |
ORPHA:47 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scarring, Short stature, Chapped lip, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Follicu... |
ORPHA:158668 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Sparse eyelashes, Alopecia, Parakeratosis, Enamel hypoplasia, Orthokeratosis, Thick hair, Sparse ... |
OMIM:607626 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Rhizomelia, Alopecia, Flexion contracture, Severe short stature |
OMIM:215100 |
Johnson Neuroectodermal Syndrome |
|
Growth delay, Short stature, Alopecia, Absent eyebrow, Absent eyelashes, Hypohidrosis, Sparse hair |
OMIM:147770 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Intrauterine growth retardation, Short stature, Brittle hair, Alopecia, Nail dystrophy, Coarse ha... |
ORPHA:75389 |
Rhizomelic Chondrodysplasia Punctata |
|
Growth delay, Short stature, Rhizomelia, Alopecia, Sparse body hair |
ORPHA:177 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Acantholysis, Neonatal death, Alopecia totalis, Absent fingernail, Alopecia universalis, Anonychia |
OMIM:609638 |
Mucoepithelial Dysplasia, Hereditary |
|
Chronic monilial nail infection, Pneumonia, Nail dystrophy, Alopecia, Coarse hair, Chronic mucocu... |
OMIM:158310 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Alopecia |
ORPHA:50812 |
Holocarboxylase Synthetase Deficiency |
|
Eczema, Alopecia, Growth delay, Perioral eczema |
ORPHA:79242 |
Johnson Neuroectodermal Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Severe short stature, Hypohidrosis, Sparse hair |
ORPHA:2316 |
Renpenning Syndrome |
|
Growth delay, Thin eyebrow, Alopecia, Severe short stature, Abnormal hair laboratory examination |
ORPHA:3242 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Fragile nails, Alopecia, Erythroderma, Short stature |
OMIM:242150 |
Incontinentia Pigmenti |
|
Broad nail, Abnormal hair morphology, Short stature, Dystrophic toenail, Alopecia, Abnormal denta... |
ORPHA:464 |
Omenn Syndrome |
|
Eosinophilia, Alopecia, Erythroderma, Pneumonia |
OMIM:603554 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Hemifacial Atrophy, Progressive |
|
Poliosis, Patchy alopecia |
OMIM:141300 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Reduced intrathoracic adipose tissue, Alopecia, Inc... |
ORPHA:2457 |
Adult Syndrome |
|
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Abnormality of... |
ORPHA:978 |
Satoyoshi Syndrome |
|
Alopecia universalis, Alopecia |
OMIM:600705 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short stature, Mild intrauterine growth retardation, Alopecia, Stillbirth, Parakeratosis, Abnorma... |
OMIM:308050 |
Frontonasal Dysplasia 2 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Alopecia |
OMIM:613451 |
Multiple Carboxylase Deficiency |
|
Alopecia, Skin rash |
ORPHA:148 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hirsutism, Dorsocervical fat pad, Alopecia, Acne |
OMIM:615830 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
Keutel Syndrome |
|
Short stature, Alopecia, Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent s... |
ORPHA:85202 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Erythroderma, Severe postnatal growth retardation, Short stature, Coarse hair, ... |
ORPHA:35173 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Erythroderma, Edema, Alopecia, Polyhydramnios, Postnatal growth retardation, Sp... |
OMIM:302960 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent upper respiratory tract infections, Alopecia, Recurrent sinusitis, Recurrent lower resp... |
OMIM:615559 |
Macs Syndrome |
|
Short stature, Bronchiectasis, Alopecia, Palpebral edema, Sparse and thin eyebrow, Sparse hair, U... |
OMIM:613075 |
Lethal Acantholytic Erosive Disorder |
|
Congenital alopecia totalis, Intrauterine growth retardation, Acantholysis, Absent hair, Absent t... |
ORPHA:158687 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Recurrent viral upper respiratory tract infections, Alopecia totalis, Re... |
OMIM:615577 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Ascites, Discoid lupus rash, Alopecia, Edema, Malar rash, Skin rash, Pleura... |
ORPHA:93552 |
Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Recurrent bronchitis, Bronchiectasis, Nail dystrophy, Alopecia, Alopecia... |
ORPHA:293978 |
Bresek Syndrome |
|
Neonatal death, Alopecia, Intrauterine growth retardation, Growth delay |
ORPHA:85284 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Alopecia universalis, Erythroderma, Patchy alopecia, Chronic ora... |
OMIM:606367 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
Monosomy 18P |
|
Low posterior hairline, Alopecia, Short stature, Lymphedema |
ORPHA:1598 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Alopecia, Recurrent lower respiratory tract infections, Recurrent upper respiratory... |
ORPHA:169154 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Brittle hair,... |
OMIM:608612 |
Scleroderma |
|
Peau d'orange, Pruritus, Fasciitis, Alopecia, Abnormal pulmonary interstitial morphology, Hypereo... |
ORPHA:801 |
H Syndrome |
|
Psoriasiform dermatitis, Hypertrichosis, Short stature, Bronchiectasis, Alopecia, Lipodystrophy, ... |
ORPHA:168569 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
Mixed Connective Tissue Disease |
|
Xerostomia, Alopecia, Pleuritis, Abnormal pulmonary interstitial morphology, Skin rash, Pulmonary... |
ORPHA:809 |
Rapp-Hodgkin Syndrome |
|
Fine hair, Small nail, Short stature, Decreased number of sweat glands, Progressive alopecia, Hyp... |
OMIM:129400 |
Hemochromatosis, Type 1 |
|
Alopecia, Pleural effusion, Ascites |
OMIM:235200 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse and thin eyebrow, Sparse eyelashes, Alopecia |
OMIM:616367 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Small nail, Sparse lateral eyebrow, Alopecia, Trichorrhexis nodosa, Pili torti, Fragile nails |
OMIM:261990 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Fine hair, Intrauterine growth retardation, Growth delay, Short stature, Alopecia, Nail dysplasia... |
OMIM:613990 |
Acrodermatitis Enteropathica |
|
Pustule, Short stature, Ridged nail, Alopecia, Abnormal eyebrow morphology, Abnormality of the na... |
ORPHA:37 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Eosinophilia, Erythroderma, Alopecia |
OMIM:304790 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Alopecia, Increase... |
OMIM:248370 |
Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Growth delay, Nail dystrophy, Palmoplantar keratoderma, Alopecia, Atrophic scars, Ename... |
ORPHA:79396 |
Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal fingernail morphology, Alopecia, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Small nail, Short stature, Alopecia totalis, Abnormal dental enamel morphology,... |
ORPHA:2909 |
Adams-Oliver Syndrome |
|
Ascites, Alopecia, Aplastic/hypoplastic toenail, Hypoplastic fingernail, Absent fingernail, Spars... |
ORPHA:974 |
Dyskeratosis Congenita |
|
Intrauterine growth retardation, Short stature, White hair, Nail dystrophy, Palmoplantar keratode... |
ORPHA:1775 |
Systemic Sclerosis |
|
Pruritus, Alopecia, Abnormal pulmonary interstitial morphology, Recurrent skin infections, Pulmon... |
ORPHA:90291 |
Flynn-Aird Syndrome |
|
Alopecia |
ORPHA:2047 |
Short Syndrome |
|
Lipodystrophy, Abnormal dental enamel morphology, Alopecia, Severe short stature, Sparse hair, In... |
ORPHA:3163 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Nail dystrophy, Alopecia, Sparse hair, Premature graying of hair, Nail pits |
OMIM:127550 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Thin fingernail, Omphalocele, Eczema, Abnormal hair morphology, Thin eyebrow, Growth delay, Alope... |
ORPHA:2273 |
Gapo Syndrome |
|
Sparse eyelashes, Growth delay, Short stature, Early balding, Alopecia, Palpebral edema, Sparse a... |
ORPHA:2067 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Small nail, Intrauterine growth retardation, Short stature, Alopecia, Absent eyebrow, Absent eyel... |
ORPHA:166035 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Fine hair, Oligohydramnios, Alopecia, Intrauterine growth retardation |
ORPHA:228390 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sparse eyelashes, Small nail, Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Polyhyd... |
ORPHA:544488 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nail dystrophy, Chronic oral candidiasis, Alopecia, Chronic mucocutaneous candidiasis, Enamel hyp... |
OMIM:240300 |
Kid Syndrome |
|
Trichilemmoma, Psoriasiform dermatitis, Sparse eyelashes, Folliculitis, Recurrent cutaneous absce... |
ORPHA:477 |
Mogs-Cdg |
|
Hirsutism, Edema, Alopecia, Long eyelashes, Polyhydramnios, Pulmonary edema, Generalized edema, F... |
ORPHA:79330 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Anonychia, Sparse eyelashes, Nail dystrophy, Palmoplantar keratoderma, Absent eyelashes, Hypercon... |
OMIM:106260 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Short stature |
OMIM:601853 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Pneumothorax, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Abnorm... |
OMIM:612387 |
Hutchinson-Gilford Progeria Syndrome |
|
Absence of subcutaneous fat, Alopecia, Growth delay |
OMIM:176670 |
Celiac Disease, Susceptibility To, 1 |
|
Eczema, Short stature, Alopecia, Enamel hypoplasia, Postnatal growth retardation, Delayed puberty |
OMIM:212750 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Growth delay, Corneal scarring, Nail dystrophy, Alopecia, Atrophic scars, Enamel hypoplasia, Nail... |
OMIM:226600 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Pne... |
ORPHA:37042 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Hirsutism, Growth delay, Dorsocervical fat pad, Alopecia, Acne, Abnormal subcutaneous fat tissue ... |
ORPHA:189439 |
Johanson-Blizzard Syndrome |
|
Intrauterine growth retardation, Short stature, Edema, Alopecia, Abnormal hair pattern |
ORPHA:2315 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash |
OMIM:253270 |
Bartsocas-Papas Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toen... |
ORPHA:1234 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia, Short stature, Camptodactyly of finger |
ORPHA:85279 |
Ane Syndrome |
|
Short stature, Alopecia, Lipoatrophy, Multiple joint contractures, Delayed puberty |
ORPHA:157954 |
Biotinidase Deficiency |
|
Seborrheic dermatitis, Recurrent skin infections, Skin rash, Alopecia |
OMIM:253260 |
Juvenile Dermatomyositis |
|
Pruritus, Alopecia, Palpebral edema, Skin rash, Pulmonary fibrosis |
ORPHA:93672 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Delayed menarche |
ORPHA:412057 |
Giant Cell Arteritis |
|
Recurrent pharyngitis, Alopecia, Hyperhidrosis, Abnormal pleura morphology |
ORPHA:397 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Lack of facial subcutaneous fat, Short stature, Alopecia, Multiple joint contractures, Low poster... |
ORPHA:2959 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Nail dystrophy, Alopecia |
OMIM:175500 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Short stature, Nail dystrophy, Alopecia, Generalized lipodystrophy, Del... |
ORPHA:90154 |
Gapo Syndrome |
|
Sparse eyelashes, Hypoplastic nipples, Sparse hair, Growth delay, Alopecia, Sparse eyebrow, Nail ... |
OMIM:230740 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormal adipose tissue morphology, Alopecia, Short stature |
ORPHA:93160 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Alopecia, Lipoma, Subcutaneous lipoma, Multiple central ner... |
OMIM:613001 |
Satoyoshi Syndrome |
|
Alopecia universalis, Abnormal hair morphology, Sparse or absent eyelashes |
ORPHA:3130 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hirsutism, Dorsocervical fat pad, Alopecia, Acne |
ORPHA:189427 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Scarring, Short stature, ... |
OMIM:308300 |
Leigh Syndrome |
|
Eczema, Hypertrichosis, Intrauterine growth retardation, Growth delay, Alopecia, Frontal hirsutis... |
ORPHA:506 |
Focal Dermal Hypoplasia |
|
Omphalocele, Aplasia/Hypoplasia of the lungs, Abnormality of the pulmonary vasculature, Congenita... |
ORPHA:2092 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hirsutism, Alopecia, Acne, Short stature |
ORPHA:90795 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Hypoplastic nipples, Alopecia, Sparse eyebrow, Bilateral breast hypoplas... |
ORPHA:69085 |
Oculocerebrocutaneous Syndrome |
|
Congenital diaphragmatic hernia, Abnormal fingernail morphology, Alopecia |
ORPHA:1647 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Seborrheic dermatitis, Alopecia |
OMIM:210210 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Sparse hair, Absent eyebrow, Absent eyelashes, Lipoatrophy, Abnormality of the pulmonary artery, ... |
ORPHA:363618 |
Alstrom Syndrome |
|
Alopecia, Recurrent pneumonia, Short stature |
OMIM:203800 |
Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Postnatal growth retardation |
ORPHA:453533 |
Rothmund-Thomson Syndrome, Type 2 |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Sparse eyebrow, Absent eyebrow, Absent eyelashes, Spa... |
OMIM:268400 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pyoderma, Pneumonia, Growth delay, Pneumothorax, Nail dystrophy, Alopecia, Edema, Enamel hypoplas... |
ORPHA:79404 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Alopecia of scalp, Growth delay, Alopecia, Abnormal eyebrow morphology, Sparse pubic hair, Delaye... |
ORPHA:2232 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Growth delay, Short stature |
OMIM:163200 |
Atypical Werner Syndrome |
|
Neoplasm of the lung, Chondrocalcinosis, Abnormal hair morphology, Short stature, Alopecia, Gener... |
ORPHA:79474 |
Dyskeratosis Congenita, X-Linked |
|
Sparse eyelashes, Intrauterine growth retardation, Split nail, Short stature, Ridged nail, Nail d... |
OMIM:305000 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse eyelashes, Growth delay, Short stature, Nail dystrophy, Alopecia, Sparse scalp hair, Lipoa... |
OMIM:614008 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Alopecia, Abnormal hair quantity |
ORPHA:457059 |
Leprosy |
|
Alopecia, Absent eyebrow, Hypohidrosis, Loss of eyelashes, Hyperkeratosis, Sparse body hair |
ORPHA:548 |
Rothmund-Thomson Syndrome Type 1 |
|
Growth delay, Short stature, Alopecia totalis, Abnormal dental enamel morphology, Facial edema, N... |
ORPHA:221008 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short stature, Alopecia, Absent eyelashes, Abnormal eyebrow morphology, Flexion contracture, Brea... |
ORPHA:90153 |
Biotinidase Deficiency |
|
Eczematoid dermatitis, Alopecia, Skin rash |
ORPHA:79241 |
Autosomal Dominant Hypocalcemia |
|
Abnormal fingernail morphology, Eczema, Alopecia, Abnormality of the nail |
ORPHA:428 |
Porphyria, Congenital Erythropoietic |
|
Hypertrichosis, Short stature, Corneal scarring, Alopecia, Absent eyebrow, Joint contracture of t... |
OMIM:263700 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopulmonary infections, Recurrent... |
OMIM:242700 |
Kikuchi-Fujimoto Disease |
|
Pustule, Pruritus, Alopecia, Malar rash, Abnormal pulmonary interstitial morphology, Skin rash, P... |
ORPHA:50918 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Hirsutism, Skin rash, Pneumonia |
ORPHA:2298 |
Rothmund-Thomson Syndrome Type 2 |
|
Growth delay, Short stature, Alopecia totalis, Abnormal dental enamel morphology, Facial edema, N... |
ORPHA:221016 |
Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Alopecia, Abnormality of hair texture, Sparse and thin eyebrow, Sparse hair, Sp... |
ORPHA:2108 |
Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis, Enamel hypoplasia, Growth delay |
OMIM:277440 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Intrauterine growth retardation, Pericardial effusion |
OMIM:618775 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Eczema, Alopecia, Postnatal growth retardation, Hyperkeratosis, Recurrent respiratory infections,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Eczema, Alopecia, Postnatal growth retardation, Hyperkeratosis, Recurrent respiratory infections,... |
ORPHA:363958 |
Bloom Syndrome |
|
Sparse eyelashes, Intrauterine growth retardation, Growth delay, Pneumonia, Severe postnatal grow... |
ORPHA:125 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Umbilical hernia, Alopecia, Inguinal hernia, Ventral hernia, Cellulitis, Wi... |
ORPHA:536532 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short stature, Recurrent upper respiratory tract infections, Recurrent respiratory infections, Th... |
OMIM:300534 |
Bartsocas-Papas Syndrome 1 |
|
Anonychia, Omphalocele, Small nail, Intrauterine growth retardation, Alopecia, Absent eyebrow, Ar... |
OMIM:263650 |
Distal Monosomy 19P13.3 |
|
Keloids, Alopecia, Thick eyebrow, Vaginal hernia, Umbilical hernia |
ORPHA:96129 |
Sarcoidosis |
|
Scarring, Bronchiectasis, Pneumothorax, Alopecia, Joint swelling, Maculopapular exanthema, Abnorm... |
ORPHA:797 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:269200 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Short stature |
ORPHA:98907 |
Xeroderma Pigmentosum |
|
Alopecia, Short stature, Hyperkeratosis |
ORPHA:910 |
Orofaciodigital Syndrome I |
|
Enamel hypoplasia, Sparse hair, Short stature, Alopecia |
OMIM:311200 |
Autoimmune Polyendocrinopathy Type 4 |
|
Xerostomia, Abnormal pulmonary interstitial morphology, Alopecia |
ORPHA:227990 |
Autosomal Dominant Robinow Syndrome |
|
Short stature, Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Curly eyelashes, Lon... |
ORPHA:3107 |
Colchicine Poisoning |
|
Alopecia, Dehydration |
ORPHA:31824 |
Autosomal Recessive Robinow Syndrome |
|
Fingernail dysplasia, Alopecia, Long eyelashes, Inguinal hernia, Disproportionate short-limb shor... |
ORPHA:1507 |
Autoimmune Polyendocrinopathy Type 3 |
|
Xerostomia, Abnormal pulmonary interstitial morphology, Alopecia |
ORPHA:227982 |
Chronic Graft Versus Host Disease |
|
Bronchiolitis obliterans, Onycholysis, Bronchiectasis, Xerostomia, Pneumothorax, Fasciitis, Nail ... |
ORPHA:99921 |
Woodhouse-Sakati Syndrome |
|
Fine hair, Sparse hair, Alopecia |
OMIM:241080 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Growth delay |
ORPHA:2612 |
Encephalocraniocutaneous Lipomatosis |
|
Lipodystrophy, Alopecia, Abnormal eyelash morphology, Multiple lipomas |
ORPHA:2396 |
Knobloch Syndrome 1 |
|
Alopecia |
OMIM:267750 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Coarse hair, Abnormal dental enamel morphology, Alopecia, Sparse hair |
ORPHA:2750 |
Viss Syndrome |
|
Atopic dermatitis, Pulmonary artery aneurysm, Eczema, Hirsutism, Short stature, Pneumothorax, Alo... |
OMIM:619472 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Intrauterine growth retardation, Growth delay, Short stature, Abnormal fingernail morphology, Alo... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Intrauterine growth retardation, Growth delay, Short stature, Abnormal fingernail morphology, Alo... |
ORPHA:99228 |
Monosomy X |
|
Intrauterine growth retardation, Growth delay, Short stature, Abnormal fingernail morphology, Alo... |
ORPHA:99226 |
Turner Syndrome |
|
Intrauterine growth retardation, Growth delay, Short stature, Abnormal fingernail morphology, Alo... |
ORPHA:881 |
Behcet Syndrome |
|
Patchy alopecia, Erythema nodosum |
OMIM:109650 |
Pallister-Killian Syndrome |
|
Omphalocele, Sparse eyelashes, Sparse and thin eyebrow, Sparse hair, Umbilical hernia, Supernumer... |
OMIM:601803 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Intrauterine growth retardation, Thin eyebrow, Alopecia, Severe short stature, Loss of eyelashes,... |
ORPHA:2636 |
Adams-Oliver Syndrome 1 |
|
Pulmonary artery stenosis, Small nail, Alopecia, Supernumerary nipple |
OMIM:100300 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cystocele, Alopecia of scalp, Short stature, Cigarette-paper scars, Pneumothorax, Pulmonary bleb,... |
OMIM:130050 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intrauterine growth retardation, Alopecia, Short stature, Flexion contracture |
OMIM:619321 |
Steinert Myotonic Dystrophy |
|
Early balding, Alopecia, Polyhydramnios |
ORPHA:273 |
Woodhouse-Sakati Syndrome |
|
Growth delay, Aplasia/Hypoplasia of the eyebrow, Alopecia, Delayed puberty |
ORPHA:3464 |
African Trypanosomiasis |
|
Pruritus, Alopecia |
ORPHA:3385 |
Ring Chromosome 13 Syndrome |
|
Alopecia, Growth delay |
ORPHA:96176 |
Hutchinson-Gilford Progeria Syndrome |
|
Dystrophic fingernails, Dystrophic toenail, Absence of subcutaneous fat, Alopecia totalis, Absent... |
ORPHA:740 |
Relapsing Polychondritis |
|
Alopecia |
ORPHA:728 |
Focal Dermal Hypoplasia |
|
Omphalocele, Hypoplastic nipples, Short stature, Absent toenail, Congenital diaphragmatic hernia,... |
OMIM:305600 |
Vascular Ehlers-Danlos Syndrome |
|
Pulmonary artery aneurysm, Short stature, Cigarette-paper scars, Pneumothorax, Abnormal eyelash m... |
ORPHA:286 |