Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
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, 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 |
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 |
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 15 |
|
Sparse scalp hair |
OMIM:620177 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
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 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
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 |
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 |
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 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
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 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
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 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
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 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
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 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Growth delay, Pulmonary fibrosis, Nail ... |
OMIM:615704 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
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 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Short stature, Pruritus, Hypohidrosis, Palmoplantar keratoderma, Erythroderma, Abnormal... |
ORPHA:79394 |
Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Short stature, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis,... |
ORPHA:317 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Palmoplantar keratoderma, Nail ... |
ORPHA:2890 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Camptodactyly of finger, Palmoplantar keratoderma, Fingernail dys... |
ORPHA:2251 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Edema, Pruritus, Hyperkeratosis, Abnormality of the nail |
ORPHA:2584 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... |
ORPHA:79397 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... |
OMIM:619208 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dyst... |
OMIM:212360 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Multiple joint contractures, Palmoplantar hyperkeratosis, Hypohidrosis, ... |
ORPHA:100976 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Nail dystrophy, Nail d... |
OMIM:242300 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of... |
ORPHA:90368 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Alopecia, Recurrent skin infections, Eczema, Eosinophilia, Prur... |
OMIM:618282 |
Sézary Syndrome |
|
Alopecia, Edema, Abnormal pleura morphology, Pruritus, Palmoplantar keratoderma, Nail dystrophy, ... |
ORPHA:3162 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes |
ORPHA:3363 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Onycholysis |
ORPHA:525 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplas... |
OMIM:226650 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn... |
ORPHA:494 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Folliculitis, Palmoplanta... |
OMIM:612843 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Growth delay, Hyperkerat... |
OMIM:242100 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair,... |
OMIM:607903 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Fine hair, Hyperkeratosis, Pulmonary fibrosis, Sparse... |
ORPHA:1839 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Severe short stature, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pat... |
ORPHA:3051 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan... |
OMIM:618535 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Severe short stature, Flexion contracture, Sev... |
OMIM:203550 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Alopecia, Recurrent skin infections, Recurrent pneumonia, Bro... |
OMIM:616576 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hypohidros... |
OMIM:602400 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hype... |
ORPHA:79395 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Neoplasm of the lung, Palmoplantar keratode... |
ORPHA:659 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Abnormal dental enamel morphology, Moderate postnatal growth reta... |
ORPHA:1005 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Alopecia, Abnormal dental enamel morphology, Highly arched eyeb... |
ORPHA:3253 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... |
ORPHA:69735 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia, Scarring |
OMIM:247100 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eyebrow, Orthokeratosis, ... |
OMIM:607626 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lipoatrophy,... |
ORPHA:90156 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Coarse... |
OMIM:158310 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema... |
OMIM:137940 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
Alpha-Heavy Chain Disease |
|
Growth delay, Alopecia, Ascites |
ORPHA:100025 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Short stature, Palmoplantar keratoderma, Erythroderma, Sparse hair, Fragile nails |
OMIM:242150 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Pal... |
OMIM:605676 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Short stature, Pneumonia, Growth delay, Nail dystroph... |
ORPHA:1867 |
Omenn Syndrome |
|
Alopecia, Pneumonia, Edema, Eosinophilia, Pruritus, Erythroderma, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Malar rash |
OMIM:301080 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Short stature, Scarring, Pruritus, Recurrent pneumonia, H... |
ORPHA:158668 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Short stature, Supernumerary nipple, Eosinophilia... |
OMIM:308300 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Skin rash, Short stature, Abnormal lung morpholo... |
ORPHA:47 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis |
OMIM:609638 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Fine ha... |
OMIM:129400 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Pulmonary artery stenosis, Coarse hair, Nail dystrophy, In... |
ORPHA:75389 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Flexion contracture, Alopecia, Severe short stature, Rhizomelia |
OMIM:215100 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair |
ORPHA:177 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis |
OMIM:610768 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Short stature, Delayed pub... |
OMIM:612079 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Skin rash, Supernumerary nipple, Short stature, Abnorma... |
ORPHA:464 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... |
ORPHA:2269 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Severe short stature, Growth delay, Thin eyebrow |
ORPHA:3242 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Recurrent lower respiratory tract in... |
OMIM:620321 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Alopecia, Eczema, Perioral eczema |
ORPHA:79242 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Hypohidrosis, Sparse hair |
ORPHA:2316 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Flexion contracture, Short stature, Camptodactyly |
ORPHA:88630 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema |
OMIM:617443 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Eosinophilia, Pruritus, Abnormal hair morpho... |
ORPHA:2314 |
Keutel Syndrome |
|
Recurrent respiratory infections, Alopecia, Short stature, Pulmonary artery stenosis, Recurrent s... |
ORPHA:85202 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Nail dystrophy |
OMIM:618373 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Acne, Hirsutism, Dorsocervical fat pad |
OMIM:615830 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... |
ORPHA:35173 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Periungual erythema, Neonatal death, Dystrophic fingernails, Absent eyebrow, Alopecia, ... |
OMIM:308205 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Oligohydramnios, Absent toenail, Absent fingernai... |
ORPHA:158687 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent lower respiratory tract infections, Alopecia, Recurrent upper respiratory tract infecti... |
OMIM:615559 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Eosinophilia, Recurrent upper respiratory tract infections, Erythroderma, Recurrent low... |
ORPHA:169154 |
Bresek Syndrome |
|
Growth delay, Intrauterine growth retardation, Alopecia, Neonatal death |
ORPHA:85284 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Recurrent sinusiti... |
OMIM:615577 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Skin rash, Edema, Pericardial effusion, Discoid lupus rash, Malar rash, Pleural effusio... |
ORPHA:93552 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Erythroderma, Pulmonary inters... |
OMIM:606367 |
Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
Monosomy 18P |
|
Alopecia, Short stature, Low posterior hairline, Lymphedema |
ORPHA:1598 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail, Oligohydramnios |
OMIM:614219 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... |
OMIM:608612 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Short stature, Lipodystrophy, Rec... |
ORPHA:168569 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Intrauterine growth retardation, Alopecia, Fine hair, Oligohydramnios |
ORPHA:228390 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Mixed Connective Tissue Disease |
|
Alopecia, Skin rash, Xerostomia, Abnormal pulmonary interstitial morphology, Joint swelling, Pulm... |
ORPHA:809 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Parakeratosis, Short stature, Flexion contracture, Hyperkeratosis, Mild intrauterine gr... |
OMIM:308050 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Short stature, Fine hair, Premature graying of hair, Growth delay, Pulmonary fibrosis, ... |
OMIM:613990 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Recurrent respiratory infections, Abnormal fingernail morp... |
ORPHA:1775 |
Hemochromatosis, Type 1 |
|
Alopecia, Pleural effusion, Ascites |
OMIM:235200 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Pustule, Paronychia, Ridged fi... |
ORPHA:37 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Alopecia, Eczema, Erythroderma |
OMIM:304790 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Kury-Isidor Syndrome |
|
Growth delay, Alopecia, Hypertrichosis |
OMIM:619762 |
Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Omenn Syndrome |
|
Eosinophilia, Alopecia, Pneumonia, Erythroderma |
OMIM:603554 |
Flynn-Aird Syndrome |
|
Alopecia |
ORPHA:2047 |
Macs Syndrome |
|
Alopecia, Short stature, Palpebral edema, Sparse eyebrow, Bronchiectasis, Sparse hair, Umbilical ... |
OMIM:613075 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Patchy alopecia, Hypereosinophilia, Chronic oral candidiasis |
OMIM:615387 |
Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Skin rash, Sparse eyelashes, Alopecia totalis, Short stature, Facial edem... |
ORPHA:2909 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Short stature |
OMIM:601853 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Scarring, Growth delay, Atrophic scars, Palmoplantar keratod... |
ORPHA:79396 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... |
OMIM:248370 |
Systemic Sclerosis |
|
Alopecia, Recurrent skin infections, Nail bed telangiectasia, Pruritus, Flexion contracture, Abno... |
ORPHA:90291 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Short stature, Eczema, Postnatal growth retardation, Delayed puberty, Enamel hypoplasia |
OMIM:212750 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Polyhydramnios, H... |
ORPHA:544488 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Ascites, Pulmonary artery... |
ORPHA:974 |
Mogs-Cdg |
|
Alopecia, Generalized edema, Polyhydramnios, Edema, Long eyelashes, Fair hair, Hirsutism, Pulmona... |
ORPHA:79330 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse hair, Intraut... |
OMIM:613451 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Inguinal hernia, Short stature, Absent eyelashes, Small nail, Intrauter... |
ORPHA:166035 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Absent eyebrow, Alopecia, Thin fingernail, Severe short stature, Eczema, Recurrent r... |
ORPHA:2273 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pharyngitis, Recurrent upper respi... |
ORPHA:293978 |
Short Syndrome |
|
Inguinal hernia, Alopecia, Severe short stature, Abnormal dental enamel morphology, Lipodystrophy... |
ORPHA:3163 |
Hutchinson-Gilford Progeria Syndrome |
|
Growth delay, Alopecia, Absence of subcutaneous fat |
OMIM:176670 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericardial effus... |
ORPHA:79126 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Palpebral edema, Short stature, Sparse eyebrow, Early balding, Growth... |
ORPHA:2067 |
Johanson-Blizzard Syndrome |
|
Alopecia, Short stature, Abnormal hair pattern, Edema, Intrauterine growth retardation |
ORPHA:2315 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent respiratory infections, Inflammatory abnormality of the skin, Psoriasiform dermatitis, ... |
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 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Lipoatrophy, Short stature, Delayed puberty |
ORPHA:157954 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Chronic mucocutaneous candidiasis, Nail dystrophy, Chronic oral candidiasis, Enamel hyp... |
OMIM:240300 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Flexion contracture, Corneal scarring, Growth delay, Atrophic scars, Nail dystrophy, Na... |
OMIM:226600 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Hypersensitivity pneumonitis, Hypereosinophilia, Atopic dermatitis, Pleural effusion |
ORPHA:2902 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
Biotinidase Deficiency |
|
Recurrent skin infections, Alopecia, Skin rash, Seborrheic dermatitis |
OMIM:253260 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Nail dystr... |
OMIM:127550 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia, Short stature, Camptodactyly of finger |
ORPHA:85279 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Delayed menarche, Alopecia |
ORPHA:412057 |
Giant Cell Arteritis |
|
Recurrent pharyngitis, Alopecia, Abnormal pleura morphology, Hyperhidrosis |
ORPHA:397 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Edema, Pulmonary edema |
OMIM:267450 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... |
ORPHA:254361 |
Waardenburg Syndrome Type 3 |
|
Atelectasis, White hair, Camptodactyly of finger, Thick eyebrow |
ORPHA:896 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
Juvenile Dermatomyositis |
|
Alopecia, Skin rash, Palpebral edema, Pruritus, Pulmonary fibrosis |
ORPHA:93672 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Alopecia |
ORPHA:453533 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Multiple joint contractures, Short stature, Lack of facial subcutaneous fat, Low poster... |
ORPHA:2959 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Short stature, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Del... |
ORPHA:90154 |
Asbestos Intoxication |
|
Edema, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fib... |
ORPHA:2302 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash |
OMIM:253270 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm... |
OMIM:106260 |
Leigh Syndrome |
|
Alopecia, Multiple joint contractures, Eczema, Growth delay, Intrauterine growth retardation, Fro... |
ORPHA:506 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormal adipose tissue morphology, Alopecia, Short stature |
ORPHA:93160 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Rhizomelia, Polyhydramnios, Edema, Sparse eyebrow, Postnatal growth retardation... |
OMIM:302960 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Alopecia, Lipoma, Multiple central nervous system lipomas, ... |
OMIM:613001 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Focal Dermal Hypoplasia |
|
Omphalocele, Alopecia, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmat... |
ORPHA:2092 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Short stature, Lipoatrophy, Abnormal hair morphology, Abnormal ... |
ORPHA:79474 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Short stature, Acne, Hirsutism |
ORPHA:90795 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Acne, Hirsutism, Dorsocervical fat pad |
ORPHA:189427 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia |
ORPHA:1647 |
Alstrom Syndrome |
|
Alopecia, Recurrent pneumonia, Short stature |
OMIM:203800 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Lipoatrophy, Sparse eyebrow, Flexio... |
OMIM:614008 |
Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
Limb-Mammary Syndrome |
|
Alopecia, Psoriasiform dermatitis, Absent nipple, Sparse eyebrow, Hypohidrosis, Bilateral breast ... |
ORPHA:69085 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Seborrheic dermatitis |
OMIM:210210 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Gro... |
ORPHA:2232 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Recurrent skin infections, Pneumonia, Edema, Paronychia, Pneumothorax, Dehydration, Gro... |
ORPHA:79404 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Growth delay, Alopecia, Short stature |
OMIM:163200 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Emphysema,... |
ORPHA:363618 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Short stature, Nail dystrophy, Intrauterine growth retardation |
OMIM:620040 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypoplastic nipples, Nail dysplasia, Sp... |
OMIM:230740 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Short stature, Pterygium of nails, Hyperhidr... |
OMIM:305000 |
Meconium Aspiration Syndrome |
|
Intrauterine growth retardation, Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Short stature, Alopecia totalis, Abnormal dental enamel morphology, Facia... |
ORPHA:221008 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Flexion contracture, Brea... |
ORPHA:90153 |
Biotinidase Deficiency |
|
Alopecia, Eczematoid dermatitis, Skin rash |
ORPHA:79241 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Atelectasis, Polyhydramnios |
OMIM:300219 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Eczema, Abnormality of the nail |
ORPHA:428 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Skin rash, Palpebral edema, Pruritus, Pustule, Abnormal pulmonary interstitial morpholo... |
ORPHA:50918 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Hypohidrosis, Hyperkeratosis, Sparse body hair |
ORPHA:548 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst |
ORPHA:2357 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Short stature, Alopecia totalis, Abnormal dental enamel morphology, Facia... |
ORPHA:221016 |
Bloom Syndrome |
|
Skin rash, Sparse eyelashes, Bronchitis, Pneumonia, Respiratory tract infection, Adipose tissue l... |
ORPHA:125 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Alopecia, Eczema, Postnatal growth retardation, Hyperkeratosis,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Alopecia, Eczema, Postnatal growth retardation, Hyperkeratosis,... |
ORPHA:363958 |
Vitamin D-Dependent Rickets, Type 2A |
|
Growth delay, Enamel hypoplasia, Alopecia universalis |
OMIM:277440 |
Lujo Hemorrhagic Fever |
|
Maculopapular exanthema, Skin rash, Facial edema, Periorbital edema, Atelectasis, Hyperhidrosis, ... |
ORPHA:319213 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Intrauterine growth retardation, Alopecia totalis |
OMIM:618775 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Skin rash, Pneumonia, Hirsutism |
ORPHA:2298 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... |
ORPHA:2108 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Abse... |
OMIM:263650 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Xerostomia, Abnormal pulmonary interstitial morphology, Chronic mucocutaneous candidiasis |
ORPHA:227990 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Short stature, Loss of eyelashes, Corneal scarring, Atypical scarring o... |
OMIM:263700 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Xerostomia, Abnormal pulmonary interstitial morphology, Chronic mucocutaneous candidiasis |
ORPHA:227982 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Alopecia, Widened atrophic scar, Inguinal hernia, Pericardial effusion, Celluliti... |
ORPHA:536532 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Polyhydramnios, Edema, Atelectasis, Hypoplastic nipples, Pulmonary ... |
OMIM:269860 |
Farber Disease |
|
Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract ... |
ORPHA:333 |
Sarcoidosis |
|
Alopecia, Maculopapular exanthema, Eosinophilia, Abnormal pleura morphology, Scarring, Erythema n... |
ORPHA:797 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Recurrent respiratory infections, Short stature, Recurrent upper respiratory tract infections, Fl... |
OMIM:300534 |
Distal Deletion 19P |
|
Alopecia, Vaginal hernia, Umbilical hernia, Keloids, Thick eyebrow |
ORPHA:96129 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Short stature |
ORPHA:98907 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Alopecia, Inguinal hernia, Camptodactyly of finger, Long eyelas... |
ORPHA:1507 |
Xeroderma Pigmentosum |
|
Hyperkeratosis, Alopecia, Short stature |
ORPHA:910 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:269200 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Lymphedema, Atelectasis, Emphysema, Pneumothorax, Chylopericard... |
ORPHA:538 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashe... |
OMIM:264090 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagni diaphragmatic hernia, Periorbital ... |
OMIM:613177 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Severe short stature, Short stature, Inguinal hernia, Curly eyelashes, Camptodactyly of... |
ORPHA:3107 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Discoid lupus rash, Atelectasis, Recurrent pneumonia, Eczema... |
OMIM:306400 |
Colchicine Poisoning |
|
Alopecia, Dehydration |
ORPHA:31824 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Short stature, Sparse hair, Enamel hypoplasia |
OMIM:311200 |
Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis,... |
OMIM:181270 |
Chand Syndrome |
|
Curly hair, Atelectasis, Nail dysplasia, Hypohidrosis |
ORPHA:1401 |
Chronic Graft Versus Host Disease |
|
Alopecia, Fasciitis, Pneumothorax, Xerostomia, Bronchiectasis, Flexion contracture, Bronchiolitis... |
ORPHA:99921 |
Linear Nevus Sebaceus Syndrome |
|
Growth delay, Alopecia |
ORPHA:2612 |
Phakomatosis Pigmentokeratotica |
|
Hyperhidrosis, Patchy alopecia, Lymphedema |
ORPHA:2874 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Multiple lipomas, Alopecia, Lipodystrophy |
ORPHA:2396 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Abnormal dental enamel morphology, Coarse hair, Sparse hair |
ORPHA:2750 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, ... |
ORPHA:536467 |
Systemic Lupus Erythematosus |
|
Discoid lupus rash, Alopecia, Malar rash |
ORPHA:536 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Abnormal fingernail morphology, Short stature, Lymphedema, Hypoplastic toenails, Postna... |
ORPHA:99413 |
Turner Syndrome |
|
Alopecia, Abnormal fingernail morphology, Short stature, Lymphedema, Hypoplastic toenails, Postna... |
ORPHA:881 |
Mosaic Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Short stature, Lymphedema, Hypoplastic toenails, Postna... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Short stature, Lymphedema, Hypoplastic toenails, Postna... |
ORPHA:99226 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... |
OMIM:620233 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Inguinal hernia, Short stature, Eczema, Polyhydramnios, Pneumothorax... |
OMIM:619472 |
Relapsing Polychondritis |
|
Atelectasis, Alopecia |
ORPHA:728 |
Zygomycosis |
|
Unusual skin infection, Fasciitis, Periorbital edema, Pustule, Atelectasis, Pneumothorax, Acute i... |
ORPHA:73263 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Severe short stature, Loss of eyelashes, Thin eyebrow, Sparse hair, Intrauterine growth... |
ORPHA:2636 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Increased connective tissue, Atelectasis, Flexion contracture, Recurrent lower respiratory tract ... |
ORPHA:258 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic hernia, Flexion contracture... |
OMIM:601803 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Recurrent respiratory infections, Inguinal hernia, Short stature, Abnormal den... |
ORPHA:534 |
Behcet Syndrome |
|
Erythema nodosum, Patchy alopecia |
OMIM:109650 |
Sympathetic Ophthalmia |
|
Alopecia, Poliosis |
ORPHA:79098 |
Adams-Oliver Syndrome 1 |
|
Pulmonary artery stenosis, Alopecia, Supernumerary nipple, Small nail |
OMIM:100300 |
Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intrauterine growth retardation, Alopecia, Flexion contracture, Short stature |
OMIM:619321 |
Steinert Myotonic Dystrophy |
|
Early balding, Alopecia, Polyhydramnios |
ORPHA:273 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Short stature, Acne, Polyhydramnios, Seborrheic dermatitis, Abnormal dental enam... |
ORPHA:567 |
Woodhouse-Sakati Syndrome |
|
Growth delay, Alopecia, Aplasia/Hypoplasia of the eyebrow, Delayed puberty |
ORPHA:3464 |
Ring Chromosome 13 Syndrome |
|
Growth delay, Alopecia |
ORPHA:96176 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Loss of eyelashes, Absence of subcutaneous fat, Patchy alopecia... |
ORPHA:740 |
African Trypanosomiasis |
|
Pruritus, Alopecia |
ORPHA:3385 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Uterine prolapse, Short stature, Inguinal hernia, Abnormality of hair texture, Abnormal... |
ORPHA:286 |
Focal Dermal Hypoplasia |
|
Ridged nail, Omphalocele, Inguinal hernia, Brittle hair, Short stature, Supernumerary nipple, Con... |
OMIM:305600 |
Digeorge Syndrome |
|
Inguinal hernia, Acne, Short stature, Femoral hernia, Seborrheic dermatitis, Atelectasis, Recurre... |
OMIM:188400 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis |
OMIM:618278 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis, Flexion contracture |
ORPHA:365 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |