Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema |
OMIM:130700 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia of scalp, Alopecia |
OMIM:260910 |
Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Periodontitis, Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea |
OMIM:613490 |
Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... |
ORPHA:60033 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Alopecia, Recurrent cutaneous ab... |
ORPHA:499 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Hypoxemia, Honeycomb lung, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... |
ORPHA:79127 |
Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse and thin eyebrow, Sparse h... |
ORPHA:2722 |
Candidiasis, Familial, 1 |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema |
ORPHA:1164 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Alopecia, Sparse hair |
OMIM:212835 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, Nail pits |
ORPHA:169095 |
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair |
OMIM:617294 |
Parc Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes |
OMIM:600331 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Bare Lymphocyte Syndrome, Type I |
|
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema |
OMIM:604571 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... |
OMIM:605389 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Pustule, Scarring alopecia of scalp, Recurrent skin infections, Patchy ... |
ORPHA:346 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... |
OMIM:612387 |
Pseudopelade Of Brocq |
|
Abnormal hair morphology, Cheilitis, Alopecia, Recurrent skin infections, Abnormality of the nail... |
ORPHA:129 |
Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Alopecia, Recu... |
OMIM:616576 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Periodontitis, Alopecia universalis, Abnormal eyelash morpho... |
ORPHA:1008 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema |
OMIM:123700 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Alopecia, Woolly scalp hair, Woolly hair |
OMIM:601217 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Nonspecific interstitial pn... |
OMIM:610921 |
Hypotrichosis 14 |
|
Sparse hair, Sparse body hair |
OMIM:618275 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, Nail pits |
OMIM:601705 |
Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Ot... |
OMIM:618781 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Alopecia, Chronic mucocutaneou... |
OMIM:618282 |
Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:202 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Ciliary dyskinesia, Dystrophic toenail, Sparse and thin eyebro... |
ORPHA:1882 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Asthma, Pneumonia |
OMIM:617638 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Decreased DLCO, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Deafness-Craniofacial Syndrome |
|
Alopecia |
OMIM:125230 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair |
OMIM:614931 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse eyelashes, Small nail, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... |
OMIM:613573 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... |
ORPHA:248 |
Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... |
OMIM:129500 |
Porphyria Cutanea Tarda |
|
Alopecia, Facial hypertrichosis, Onycholysis |
OMIM:176100 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Nail dysplasia, Alopecia, Erysipelas, Pulmonary fibrosis |
OMIM:615704 |
Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Nail dystrophy, Alopecia, Sparse hair |
OMIM:616353 |
Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
Pili Torti-Onychodysplasia Syndrome |
|
Eczema, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Nail dystrophy, Congenital onyc... |
ORPHA:2890 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... |
OMIM:619632 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Recurrent respiratory infections, Respiratory insufficiency, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... |
ORPHA:573 |
Zinc Deficiency, Transient Neonatal |
|
Eczema, Alopecia |
OMIM:608118 |
Hypophosphatasia |
|
Emphysema, Respiratory insufficiency |
ORPHA:436 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... |
OMIM:618695 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia |
OMIM:614564 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... |
OMIM:614370 |
Moynahan Syndrome |
|
Alopecia, Sparse hair |
ORPHA:2574 |
Oliver-Mcfarlane Syndrome |
|
Long eyebrows, Sparse hair, Long eyelashes, Alopecia |
OMIM:275400 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, ... |
OMIM:612843 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair |
ORPHA:2251 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Nail dystrophy, Alopecia |
OMIM:618373 |
Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair |
OMIM:104100 |
Ciliary Dyskinesia, Primary, 9 |
|
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Cough, R... |
OMIM:612444 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... |
OMIM:300770 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Alopecia |
OMIM:617443 |
Congenital Tracheomalacia |
|
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... |
ORPHA:95430 |
Idiopathic Trachyonychia |
|
Atopic dermatitis, Ridged nail, Circumungual hyperkeratosis, Nail dystrophy, Thin nail, Fingernai... |
ORPHA:79153 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Cough, Restrictive ventilatory defect, Dyspnea, Emphysema, Pleural effusion |
ORPHA:36412 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow |
OMIM:607655 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Pseudoprogeria Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair |
ORPHA:2985 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Nail dystrophy, Alopecia totalis |
OMIM:212360 |
Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Pulmonary fibrosis, Recurrent respiratory infections, Sparse hair |
ORPHA:1839 |
Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Alopecia, Abnormality of the nail, Skin rash, Generalized hirsutism |
ORPHA:317 |
Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis |
OMIM:615481 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Nail dystrophy, Alopecia, Nail dysplasia, Sparse hair |
OMIM:242300 |
Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp |
OMIM:136300 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Nail dystrophy, Alopecia, Atrichia, Congenital abnormal hair pattern |
ORPHA:1867 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair |
ORPHA:2850 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Erythroderma |
OMIM:618840 |
Netherton Syndrome |
|
Recurrent respiratory infections, Emphysema, Asthma |
ORPHA:634 |
Schöpf-Schulz-Passarge Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia |
ORPHA:50944 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Nail dystrophy, Alopecia |
ORPHA:79397 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Sparse scalp hair, Pleural effusion, Sparse body hair |
ORPHA:69735 |
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 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Alopecia |
OMIM:617763 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, Alopecia, Arth... |
ORPHA:47 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis, Osteomyelitis |
OMIM:239840 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplasia |
OMIM:607823 |
Mucoepithelial Dysplasia, Hereditary |
|
Chronic monilial nail infection, Pneumonia, Nail dystrophy, Rhinorrhea, Alopecia, Coarse hair, Ch... |
OMIM:158310 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Alopecia, Erythroderma, Abnormality of the nail, Keratitis |
ORPHA:79394 |
Classic Mycosis Fungoides |
|
Eczema, Alopecia, Abnormality of the nail, Skin rash |
ORPHA:2584 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Recurrent viral upper respiratory tract infections, Recurrent otitis med... |
OMIM:615577 |
Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia |
OMIM:612079 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Recurrent otitis media, Alopecia, Pulmonary artery stenosis, Rec... |
ORPHA:85202 |
Common Variable Immunodeficiency |
|
Pneumonia, Bronchiectasis, Recurrent bronchitis, Restrictive ventilatory defect, Recurrent respir... |
ORPHA:1572 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Fingernail dysplasia, Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse scal... |
ORPHA:2325 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Alopecia universalis, Sparse hair |
OMIM:614594 |
Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lymphadenitis, Alopecia |
ORPHA:90156 |
Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Alopecia totalis, Blepharitis, Subungual hyperkeratosis |
OMIM:300918 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Fine hair, Allergic rhinitis, Alopecia of scalp, Slow-growing scalp hair, Spar... |
ORPHA:90368 |
Keratoderma Hereditarium Mutilans |
|
Abnormal toenail morphology, Alopecia, Abnormality of the nail |
ORPHA:494 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Lung abscess, Pneumonia, Cough, Decreased DLCO, Restrictive ventilatory defect, Dyspne... |
OMIM:610910 |
Lichen Planopilaris |
|
Onycholysis, Abnormal fingernail morphology, Hepatitis, Alopecia |
ORPHA:525 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Alopecia of scalp, Sparse eyebrow, Absent pubic hair, Absent axillar... |
ORPHA:2269 |
Lymphangioleiomyomatosis |
|
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Restrictive ventilatory defect, Dyspnea, Rec... |
ORPHA:538 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Cholangitis, Sparse eyelashes, Alopecia, Thick hair, Sparse hair |
OMIM:607626 |
Holocarboxylase Synthetase Deficiency |
|
Eczema, Perioral eczema, Tachypnea, Alopecia, Respiratory distress, Keratoconjunctivitis |
ORPHA:79242 |
Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Eczema, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, ... |
ORPHA:3051 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Respiratory insufficiency |
ORPHA:337 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pulmonary artery stenosis, Tracheomalacia, Emphysema, Pulmonary hypoplasia |
OMIM:613177 |
Cronkhite-Canada Syndrome |
|
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Hypoplastic toenails, Abno... |
ORPHA:2930 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Membranous nephropathy, Recurrent otitis media, Alopecia, Arthritis, Recurrent lower respiratory ... |
OMIM:615559 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Fragile nails, Alopecia, Erythroderma, Conjunctivitis |
OMIM:242150 |
Sézary Syndrome |
|
Nail dystrophy, Alopecia, Erythroderma, Abnormal pleura morphology |
ORPHA:3162 |
Loeys-Dietz Syndrome 4 |
|
Pneumothorax, Emphysema |
OMIM:614816 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Angular cheilitis, Leukonychia, Sparse axill... |
OMIM:613102 |
Olmsted Syndrome 2 |
|
Cheilitis, Alopecia universalis, Sparse hair, Woolly hair |
OMIM:619208 |
Bathing Suit Ichthyosis |
|
Nail dystrophy, Alopecia, Erythroderma, Sparse hair |
ORPHA:100976 |
Multiple Carboxylase Deficiency |
|
Tachypnea, Respiratory distress, Alopecia, Skin rash |
ORPHA:148 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Interstitial pneumonitis, Ridged nail, Nail dystrophy, Alopecia, Pulmonary fibrosis, Sparse hair,... |
OMIM:127550 |
Hypervitaminosis A, Susceptibility To |
|
Alopecia totalis |
OMIM:240150 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Recurrent bronchitis, Bronchiectasis, Nail dystrophy, Recurrent otitis m... |
ORPHA:293978 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hashimoto thyroiditis, Alopecia |
ORPHA:3143 |
Sarcoidosis, Susceptibility To, 1 |
|
Hypoxemia, Bronchiectasis, Pulmonary arterial hypertension, Cough, Elevated bronchoalveolar lavag... |
OMIM:181000 |
Mixed Connective Tissue Disease |
|
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Pleuritis, Pulmonary arterial hy... |
ORPHA:809 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Respiratory insufficiency |
OMIM:215100 |
Omenn Syndrome |
|
Alopecia, Erythroderma, Pneumonia |
OMIM:603554 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Brittle hair, Alopecia, Nail dystrophy, Coarse hair, Pulmonary artery stenosis |
ORPHA:75389 |
Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pulmonary lymphangiectasia, Sparse eyelashes, Alopecia, Absent eyebrow, Absent eyelashes, Membran... |
OMIM:137940 |
Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... |
ORPHA:251393 |
Nocardiosis |
|
Productive cough, Pneumonia, Pneumothorax, Pleuritis, Respiratory distress, Nonproductive cough, ... |
ORPHA:31204 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Small nail, Alopecia, Abnormal hair morphology, Thin nail |
OMIM:242100 |
Omenn Syndrome |
|
Erythroderma, Pneumonia, Alopecia, Thyroiditis, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Alopecia |
ORPHA:50812 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Respiratory insufficiency, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumoni... |
ORPHA:90349 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Tachypnea, Interlobular sep... |
OMIM:265120 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Small nail, Sparse lateral eyebrow, Alopecia, Recurrent otitis media, Snoring, Trichorrhexis nodo... |
OMIM:261990 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hirsutism, Alopecia, Acne |
OMIM:615830 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Emphysema, Tracheobronchomalacia |
OMIM:616835 |
Hemifacial Atrophy, Progressive |
|
Poliosis, Patchy alopecia |
OMIM:141300 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Highly arched eyebrow, Dystrophic fingernails, Dystrophic toenail, Sparse lateral eyebrow, Nail d... |
ORPHA:3253 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal fingernail morphology, Neoplasm of the lung, Sparse hair, Alopecia |
ORPHA:659 |
Satoyoshi Syndrome |
|
Alopecia universalis, Alopecia |
OMIM:600705 |
Frontonasal Dysplasia 2 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Alopecia |
OMIM:613451 |
Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
Macs Syndrome |
|
Sparse and thin eyebrow, Sparse hair, Alopecia, Bronchiectasis |
OMIM:613075 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Keutel Syndrome |
|
Sinusitis, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Chronic sinusitis, Pulmona... |
OMIM:245150 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Patchy alopecia, Chronic oral candidiasis, Thyroid... |
OMIM:606367 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... |
ORPHA:37042 |
Renpenning Syndrome |
|
Alopecia, Abnormal hair laboratory examination, Thin eyebrow |
ORPHA:3242 |
Pachyonychia Congenita |
|
Onychogryposis of fingernail, Fingernail dysplasia, Nail dystrophy, Alopecia, Angular cheilitis, ... |
ORPHA:2309 |
Adult Syndrome |
|
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Abnormality of... |
ORPHA:978 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Alopecia, Hyperventilation, Skin rash |
OMIM:253270 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Alopecia, Respiratory insufficiency |
OMIM:135100 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Erythroderma, Hepatitis, Alopecia, Arthritis, Glomerulonephritis |
OMIM:304790 |
Relapsing Polychondritis |
|
Myocarditis, Pericarditis, Episcleritis, Abnormal pattern of respiration, Chondritis of pinna, Ch... |
ORPHA:728 |
Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal fingernail morphology, Alopecia, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pneumothorax, Pulmonary bleb, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Repeated pneu... |
OMIM:130050 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Discoid lupus rash, Nephritis, Alopecia, Arthritis, Malar rash, Skin rash, Dyspnea, Ple... |
ORPHA:93552 |
Acrodermatitis Enteropathica |
|
Pustule, Cheilitis, Ridged nail, Alopecia, Abnormal eyebrow morphology, Abnormality of the nail, ... |
ORPHA:37 |
Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Absent eyelashes, Alopecia |
ORPHA:2316 |
Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Absent eyelashes, Alopecia |
OMIM:147770 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Chronic oral candidiasis, Nail dystrophy, Alopecia, Chronic mucocutaneo... |
OMIM:240300 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia |
OMIM:219721 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Ellis Van Creveld Syndrome |
|
Emphysema, Aplasia/Hypoplasia of the lungs |
ORPHA:289 |
Neonatal Marfan Syndrome |
|
Hypoxemia, Neonatal respiratory distress, Emphysema |
ORPHA:284979 |
Hemochromatosis, Type 1 |
|
Alopecia, Pleural effusion |
OMIM:235200 |
Scleroderma |
|
Myocarditis, Pericarditis, Episcleritis, Fasciitis, Pulmonary arterial hypertension, Alopecia, Ar... |
ORPHA:801 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Alopecia totalis, Anonychia, Absent fingernail |
OMIM:609638 |
Rapp-Hodgkin Syndrome |
|
Fine hair, Small nail, Recurrent otitis media, Decreased number of sweat glands, Progressive alop... |
OMIM:129400 |
Biotinidase Deficiency |
|
Seborrheic dermatitis, Tachypnea, Apnea, Alopecia, Recurrent skin infections, Skin rash, Conjunct... |
OMIM:253260 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Tachypnea, Cough, Abnormal pulmonary interstitial morphology, Respirat... |
OMIM:613658 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse and thin eyebrow, Sparse eyelashes, Alopecia |
OMIM:616367 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent upper respiratory tract infections, Alopecia, Erythroderma, Recurrent lower respiratory... |
ORPHA:169154 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema |
OMIM:614437 |
Fabry Disease |
|
Chronic pulmonary obstruction, Dyspnea, Emphysema, Respiratory insufficiency |
ORPHA:324 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Nail dystrophy, Alopecia, Onychogryposis |
ORPHA:79395 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Fine hair, Alopecia, Nail dysplasia, Pulmonary fibrosis, Premature graying of hair |
OMIM:613990 |
Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
Flynn-Aird Syndrome |
|
Alopecia |
ORPHA:2047 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Erythroderma, Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, Keratitis, Nail dysplasia |
OMIM:308205 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Alopecia, Aplastic/hypoplastic toenail, Hypoplastic fingernail, ... |
ORPHA:974 |
Alstrom Syndrome |
|
Chronic active hepatitis, Tubulointerstitial nephritis, Nephritis, Alopecia, Otitis media, Recurr... |
OMIM:203800 |
Monosomy 18P |
|
Low posterior hairline, Alopecia |
ORPHA:1598 |
Behcet Syndrome |
|
Epididymitis, Arthritis, Iridocyclitis, Patchy alopecia, Iritis, Erythema nodosum |
OMIM:109650 |
Juvenile Dermatomyositis |
|
Pericarditis, Myositis, Alopecia, Arthritis, Cough, Skin rash, Pulmonary fibrosis, Restrictive ve... |
ORPHA:93672 |
Sarcoidosis |
|
Bronchiectasis, Pneumothorax, Cough, Upper airway obstruction, Pulmonary fibrosis, Abnormal lung ... |
ORPHA:797 |
Mogs-Cdg |
|
Hirsutism, Apnea, Alopecia, Long eyelashes, Respiratory distress, Pulmonary edema, Hypoventilatio... |
ORPHA:79330 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Erythroderma, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alop... |
ORPHA:35173 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sparse eyelashes, Small nail, Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Asthma,... |
ORPHA:544488 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax |
ORPHA:558 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Hepatitis, Alopecia... |
ORPHA:227990 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Alopecia, Pancreatitis |
ORPHA:412057 |
Autosomal Dominant Cutis Laxa |
|
Bronchiolitis, Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis |
ORPHA:90348 |
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 |
H Syndrome |
|
Psoriasiform dermatitis, Hypertrichosis, Bronchiectasis, Chronic rhinitis, Alopecia, Abnormal eye... |
ORPHA:168569 |
Bresek Syndrome |
|
Alopecia |
ORPHA:85284 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Brittle hair, Sparse hair, Alopecia, Abnormality of hair texture |
OMIM:608612 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Pneumothorax |
OMIM:154700 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Alopecia, Arthritis, Cough, Abnormal pleura morphology, Recurrent pharyn... |
ORPHA:397 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Nail dysplasia, Nail dystrophy, Alopecia, Conjunctivitis |
OMIM:226600 |
Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Hepatitis, Alopecia... |
ORPHA:227982 |
Lethal Acantholytic Erosive Disorder |
|
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyebrow, Absent eyelashes, Absen... |
ORPHA:158687 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Erythroderma, Alopecia, Sparse and thin eyebrow, Sparse hair |
OMIM:302960 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis |
OMIM:269200 |
Systemic Sclerosis |
|
Myocarditis, Pericarditis, Glomerulonephritis, Pulmonary arterial hypertension, Alopecia, Arthrit... |
ORPHA:90291 |
Incontinentia Pigmenti |
|
Broad nail, Infectious encephalitis, Abnormal hair morphology, Dystrophic toenail, Pulmonary arte... |
ORPHA:464 |
Bartsocas-Papas Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toen... |
ORPHA:1234 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia |
OMIM:601853 |
Biotinidase Deficiency |
|
Eczematoid dermatitis, Apnea, Alopecia, Respiratory distress, Skin rash, Hyperventilation, Conjun... |
ORPHA:79241 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Nail dystrophy, Alopecia |
OMIM:175500 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal toenail morphology, Sparse hair, Alopecia |
ORPHA:1005 |
Satoyoshi Syndrome |
|
Alopecia universalis, Abnormal hair morphology, Sparse or absent eyelashes |
ORPHA:3130 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Small nail, Alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:166035 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia |
ORPHA:85279 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Seborrheic dermatitis, Alopecia |
OMIM:210210 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Anonychia, Sparse eyelashes, Nail dystrophy, Absent eyelashes, Hyperconvex nail, Patchy alopecia,... |
OMIM:106260 |
Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Sparse hair, Respiratory insufficiency, Alopecia, Abnormality of hair texture, ... |
ORPHA:2108 |
Gapo Syndrome |
|
Sparse eyelashes, Hypoplastic nipples, Sparse hair, Alopecia, Sparse eyebrow, Nail dysplasia, Bre... |
OMIM:230740 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Fine hair, Alopecia |
ORPHA:228390 |
Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
Gapo Syndrome |
|
Early balding, Sparse and thin eyebrow, Sparse eyelashes, Alopecia |
ORPHA:2067 |
Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
Mandibuloacral Dysplasia |
|
Hypoplastic fingernail, Sparse hair, Alopecia |
ORPHA:2457 |
Oculocerebrocutaneous Syndrome |
|
Abnormal fingernail morphology, Alopecia |
ORPHA:1647 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Respiratory failure, Unilateral lung agenesis, Emphysema |
ORPHA:500150 |
Autosomal Dominant Hypocalcemia |
|
Eczema, Abnormal pattern of respiration, Alopecia, Abnormality of the nail, Abnormal fingernail m... |
ORPHA:428 |
Celiac Disease, Susceptibility To, 1 |
|
Eczema, Stomatitis, Alopecia, Thyroiditis, Recurrent aphthous stomatitis |
OMIM:212750 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Alopecia, Abnormal hair quantity |
ORPHA:457059 |
Dyskeratosis Congenita |
|
White hair, Nail dystrophy, Alopecia, Abnormal eyebrow morphology, Periodontitis, Aplastic/hypopl... |
ORPHA:1775 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Cheilitis, Chapped lip, Nail dystrophy, Recurrent skin infections, Recurrent pneumonia, Alopecia ... |
ORPHA:158668 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Low posterior hairline, Alopecia, Central sleep apnea |
ORPHA:2959 |
Chronic Graft Versus Host Disease |
|
Bronchiolitis obliterans, Wheezing, Keratoconjunctivitis sicca, Urinary bladder inflammation, Ony... |
ORPHA:99921 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Stridor, Pyoderma, Pneumonia, Pneumothorax, Nail dystrophy, Alopecia, Respiratory distress, Recur... |
ORPHA:79404 |
Porphyria, Congenital Erythropoietic |
|
Hypertrichosis, Alopecia, Absent eyebrow, Loss of eyelashes, Conjunctivitis |
OMIM:263700 |
Rothmund-Thomson Syndrome, Type 2 |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Sparse eyebrow, Absent eyebrow, Absent eyelashes, Spa... |
OMIM:268400 |
Insulin-Resistance Syndrome Type B |
|
Hirsutism, Pneumonia, Nephritis, Alopecia, Skin rash, Osteoarthritis |
ORPHA:2298 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Nail dystrophy, Alopecia, Abnormal hair morphology |
ORPHA:90154 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Alopecia of scalp, Alopecia, Abnormal eyebrow morphology, Sparse pubic hair, Sparse and thin eyeb... |
ORPHA:2232 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Peripheral pulmonary artery stenosis |
OMIM:613001 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Nail dystrop... |
OMIM:308300 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Hypoplastic nipples, Alopecia, Sparse eyebrow, Chronic irritative conjun... |
ORPHA:69085 |
Colchicine Poisoning |
|
Myocarditis, Respiratory distress, Alopecia, Cardiorespiratory arrest |
ORPHA:31824 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hirsutism, Alopecia, Acne |
ORPHA:189427 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse eyelashes, Nail dystrophy, Pulmonary arterial hypertension, Alopecia, Sparse scalp hair, S... |
OMIM:614008 |
Leigh Syndrome |
|
Eczema, Hypertrichosis, Abnormal pattern of respiration, Alopecia, Frontal hirsutism, Respiratory... |
ORPHA:506 |
Viss Syndrome |
|
Pulmonary artery aneurysm, Pneumothorax, Pulmonary arterial hypertension, Asthma, Dyspnea, Emphysema |
OMIM:619472 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Thin fingernail, Eczema, Abnormal hair morphology, Episcleritis, Thin eyebrow, Cheilitis, Alopeci... |
ORPHA:2273 |
Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern |
ORPHA:2315 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hirsutism, Alopecia, Acne |
ORPHA:90795 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Breast aplasia, Alopecia, Absent eyelashes, Abnormal eyebrow morphology |
ORPHA:90153 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Hyperventilation |
OMIM:618775 |
Ane Syndrome |
|
Alopecia |
ORPHA:157954 |
Dyskeratosis Congenita, X-Linked |
|
Sparse eyelashes, Split nail, Ridged nail, Nail dystrophy, Alopecia, Pterygium of nails, Pulmonar... |
OMIM:305000 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Hirsutism, Alopecia, Acne |
ORPHA:189439 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia |
OMIM:163200 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Pulmonary hypoplasia, Abnormality of the nail, Alopecia |
OMIM:308050 |
Bloom Syndrome |
|
Chronic pulmonary obstruction, Sparse eyelashes, Pneumonia, Cheilitis, Rhinitis, Respiratory trac... |
ORPHA:125 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Small nail, Alopecia totalis, Sparse eyebrow, Malar rash, Nail dysplasia, Skin ... |
ORPHA:2909 |
Distal Monosomy 19P13.3 |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Nail dystrophy, Recurrent skin infections, Onychogryposis, Alopecia |
ORPHA:79396 |
Focal Dermal Hypoplasia |
|
Abnormality of the pulmonary vasculature, Aplasia/Hypoplasia of the lungs, Abnormality of the nai... |
ORPHA:2092 |
Localized Scleroderma |
|
Abnormality of skin adnexa morphology, Hashimoto thyroiditis, Fasciitis, Esophagitis, Arthritis, ... |
ORPHA:90289 |
Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis |
OMIM:277440 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia |
OMIM:248370 |
Leprosy |
|
Sparse body hair, Epistaxis, Alopecia, Absent eyebrow, Uveitis, Loss of eyelashes, Iritis |
ORPHA:548 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Pustule, Alopecia, Malar rash, Abnormal pulmonary interstitial morphology, Skin rash... |
ORPHA:50918 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia |
ORPHA:98907 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Periodontitis, Alopecia, Keratoconjunctivitis sicca |
ORPHA:536532 |
Orofaciodigital Syndrome Type 1 |
|
Chronic otitis media, Brittle hair, Coarse hair, Alopecia, Sparse hair |
ORPHA:2750 |
Bartsocas-Papas Syndrome 1 |
|
Small nail, Alopecia, Absent eyebrow, Absent eyelashes, Alopecia totalis, Sparse scalp hair, Anon... |
OMIM:263650 |
Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia |
OMIM:311200 |
Knobloch Syndrome 1 |
|
Alopecia |
OMIM:267750 |
Woodhouse-Sakati Syndrome |
|
Fine hair, Sparse hair, Alopecia |
OMIM:241080 |
Adams-Oliver Syndrome 1 |
|
Small nail, Alopecia, Pulmonary arterial hypertension, Pulmonary artery stenosis, Supernumerary n... |
OMIM:100300 |
Atypical Werner Syndrome |
|
Neoplasm of the lung, Abnormal hair morphology, Alopecia, Abnormal hair quantity, White forelock,... |
ORPHA:79474 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia |
ORPHA:2612 |
Autosomal Recessive Robinow Syndrome |
|
Chronic otitis media, Fingernail dysplasia, Alopecia, Long eyelashes, Recurrent respiratory infec... |
ORPHA:1507 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Eczema, Recurrent otitis media, Alopecia, Recurrent respiratory infections, Tracheomalacia, Fair ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Eczema, Recurrent otitis media, Alopecia, Recurrent respiratory infections, Tracheomalacia, Fair ... |
ORPHA:363958 |
Xeroderma Pigmentosum |
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Alopecia, Blepharitis, Keratitis |
ORPHA:910 |
Sotos Syndrome |
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Pulmonary bleb, Small cell lung carcinoma |
ORPHA:821 |
Rothmund-Thomson Syndrome Type 1 |
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Alopecia totalis, Nail dysplasia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:221008 |
Autosomal Dominant Robinow Syndrome |
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Onychogryposis of fingernail, Fingernail dysplasia, Curly eyelashes, Long eyelashes, Alopecia, Ri... |
ORPHA:3107 |
Rothmund-Thomson Syndrome Type 2 |
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Alopecia totalis, Nail dysplasia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:221016 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Thin eyebrow, Alopecia, Loss of eyelashes, Respiratory failure, Dyspnea, Sparse hair |
ORPHA:2636 |
Steinert Myotonic Dystrophy |
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Respiratory insufficiency, Obstructive sleep apnea, Early balding, Respiratory insufficiency due ... |
ORPHA:273 |
Turner Syndrome |
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Inflammation of the large intestine, Low posterior hairline, Recurrent otitis media, Alopecia, Ab... |
ORPHA:881 |
Monosomy X |
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Inflammation of the large intestine, Low posterior hairline, Recurrent otitis media, Alopecia, Ab... |
ORPHA:99226 |
Mosaic Monosomy X |
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Inflammation of the large intestine, Low posterior hairline, Recurrent otitis media, Alopecia, Ab... |
ORPHA:99228 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Inflammation of the large intestine, Low posterior hairline, Recurrent otitis media, Alopecia, Ab... |
ORPHA:99413 |
African Trypanosomiasis |
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Myocarditis, Pericarditis, Alopecia, Keratitis, Optic neuritis, Myelitis, Iritis, Conjunctivitis |
ORPHA:3385 |
Hutchinson-Gilford Progeria Syndrome |
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Dystrophic fingernails, Dystrophic toenail, Pulmonary arterial hypertension, Absent eyebrow, Alop... |
ORPHA:740 |
Woodhouse-Sakati Syndrome |
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Aplasia/Hypoplasia of the eyebrow, Alopecia |
ORPHA:3464 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Alopecia |
OMIM:619321 |
Ring Chromosome 13 Syndrome |
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Alopecia |
ORPHA:96176 |
Vascular Ehlers-Danlos Syndrome |
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Pulmonary artery aneurysm, Respiratory insufficiency, Pneumothorax, Alopecia, Abnormality of hair... |
ORPHA:286 |
Pallister-Killian Syndrome |
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Apneic episodes in infancy, Sparse eyelashes, Sparse hair, Alopecia, Sparse eyebrow, Sparse scalp... |
OMIM:601803 |
Amelogenesis Imperfecta, Type Ih |
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OMIM:616221 |