Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia, Alopecia of scalp |
OMIM:260910 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
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 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ... |
ORPHA:499 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
Candidiasis, Familial, 1 |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ... |
ORPHA:346 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Res... |
OMIM:612387 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... |
ORPHA:129 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... |
ORPHA:1008 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath... |
ORPHA:2980 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Alopecia, Atrophic gastritis, Recurrent skin infections, Recu... |
OMIM:616576 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia... |
OMIM:206920 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Recurrent respiratory infections, Alopecia, Sparse scalp hair, Sparse eyebrow, Fine hair, Ciliary... |
ORPHA:1882 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Hirsutism |
OMIM:604931 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Neonatal death, Microphthalmia, Retrogn... |
OMIM:615524 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Flexion contracture of finger, Abnormal dental morphology, Interphalangeal joint contracture of f... |
ORPHA:69087 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Restrictive ventilatory defect, Pulmonary fibrosis, N... |
OMIM:615704 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Usher Syndrome Type 2 |
|
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Depression, Microd... |
ORPHA:231178 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Nail dystrophy, Trichodysplasia... |
ORPHA:2890 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Sandal gap, Carious teeth, Overweight, Small hand, 2-3 toe syndactyly,... |
OMIM:619229 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Mitten deformity |
ORPHA:251393 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft |
OMIM:611638 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Hypophosphatasia |
|
Emphysema, Respiratory insufficiency |
ORPHA:436 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Ulnar deviation of the wrist, Grayish enamel, Carious teeth, Epiphyseal de... |
OMIM:253000 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ... |
OMIM:612843 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail |
ORPHA:2251 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Ulnar deviation of the wrist, Grayish enamel, Carious teeth, Epiphyseal de... |
OMIM:253010 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Abnormal lung morphology, Tachypnea, Atelectasis, Whee... |
ORPHA:60032 |
Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Rec... |
OMIM:618282 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... |
ORPHA:1106 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Shor... |
ORPHA:411986 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Cleft palate, Microphthalmia |
OMIM:164180 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Hydrolethalus |
|
Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cle... |
ORPHA:2189 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus, Microphthalmia |
OMIM:613885 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... |
ORPHA:208441 |
Trisomy 13 |
|
Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Cryptorchidism... |
ORPHA:3378 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Asbestos Intoxication |
|
Reduced vital capacity, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive cough, ... |
ORPHA:2302 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Postaxial hand polydactyly, High palate, Widely spaced teeth, Solitary median maxil... |
ORPHA:66625 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... |
OMIM:619632 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Allergic rhinitis, Abnormalit... |
ORPHA:90368 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Respiratory insufficiency |
ORPHA:337 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... |
ORPHA:79153 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes |
ORPHA:3363 |
Usher Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Depression, Microd... |
ORPHA:886 |
Hypocomplementemic Urticarial Vasculitis |
|
Dyspnea, Restrictive ventilatory defect, Pleural effusion, Cough, Emphysema, Airway obstruction |
ORPHA:36412 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the dentition, Cariou... |
ORPHA:582 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal hair morphology, Abnormality of the nail, Generalized hirsutism |
ORPHA:317 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... |
OMIM:300770 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Fine hair, Pulmonary fibrosis, Sparse hair |
ORPHA:1839 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ... |
ORPHA:666 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, Nail dystrophy, Atrichia |
ORPHA:1867 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Pleural effusion, Sparse body hair |
ORPHA:69735 |
Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp |
OMIM:136300 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... |
OMIM:265900 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Abnormality of dental color, Abnormal finger morphology |
OMIM:163200 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Nail dystrophy, Nail dysplasia |
ORPHA:79397 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Widely sp... |
ORPHA:90322 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... |
ORPHA:139471 |
Netherton Syndrome |
|
Asthma, Emphysema, Recurrent respiratory infections |
ORPHA:634 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Hip contracture, Micrognathia, Carious teeth, Coxa valg... |
OMIM:618363 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Erythroderma |
OMIM:618840 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Malar rash, Optic neuritis, Myelitis |
OMIM:301080 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormal lu... |
ORPHA:47 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair |
OMIM:242300 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of f... |
ORPHA:1104 |
Congenital Ichthyosiform Erythroderma |
|
Keratitis, Alopecia, Abnormality of the nail, Erythroderma |
ORPHA:79394 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... |
OMIM:147250 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Trisomy 1Q |
|
Microretrognathia, Anophthalmia, Arachnodactyly, Toe syndactyly, Camptodactyly of finger, Cryptor... |
ORPHA:261344 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Classic Mycosis Fungoides |
|
Skin rash, Alopecia, Eczema, Abnormality of the nail |
ORPHA:2584 |
Keutel Syndrome |
|
Recurrent respiratory infections, Alopecia, Pulmonary artery stenosis, Recurrent sinusitis, Recur... |
ORPHA:85202 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema |
OMIM:617443 |
Holoprosencephaly 9 |
|
Anophthalmia, Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test... |
OMIM:610829 |
48,Xxyy Syndrome |
|
Apnea, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Abnormal repetitive manneris... |
ORPHA:10 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... |
ORPHA:79126 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Hyperactivity, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclu... |
OMIM:613684 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Asthma, Recurrent pneumonia, Recurrent ... |
OMIM:615577 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lymphadenitis, Alopecia |
ORPHA:90156 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... |
ORPHA:1572 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Posterior blepharitis, Blepharitis, Alopecia totalis |
OMIM:300918 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, ... |
ORPHA:3051 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... |
OMIM:158310 |
Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Hepatitis |
ORPHA:525 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentit... |
ORPHA:90321 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Abnormality of the nail, Abnormal toenail morphology |
ORPHA:494 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Restrictive ventilatory def... |
ORPHA:538 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Anterior pituitary hypoplas... |
ORPHA:264200 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
Cutis Laxa, Autosomal Dominant 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... |
OMIM:617102 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic... |
ORPHA:2470 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Atelectasis, Wheezing, Asthma, Hypersensitivity pneumonit... |
ORPHA:2902 |
Sézary Syndrome |
|
Alopecia, Nail dystrophy, Abnormal pleura morphology, Erythroderma |
ORPHA:3162 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Alopecia, Eczema, Tachypnea, Keratoconjunctivitis, Perioral eczema |
ORPHA:79242 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Cheilitis, Alopecia universalis |
OMIM:619208 |
Loeys-Dietz Syndrome 4 |
|
Emphysema, Pneumothorax |
OMIM:614816 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia, Recurrent upper respiratory tract infections, Arthritis, Membranous nephropathy, Recurr... |
OMIM:615559 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Failure to... |
ORPHA:783 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, A... |
ORPHA:2538 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal... |
OMIM:300166 |
Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hashimoto thyroiditis |
ORPHA:3143 |
Mixed Connective Tissue Disease |
|
Alopecia, Myositis, Pericarditis, Skin rash, Gastritis, Dyspnea, Myocarditis, Abnormal pulmonary ... |
ORPHA:809 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Pulmonary embolism, Clinodactyly of the 5th finger, Abnormal dental enamel... |
ORPHA:96263 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorc... |
ORPHA:1101 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy, Erythroderma |
ORPHA:100976 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Micrognathia, Carious teeth, Trismus, Dyspnea, Tapered finger, Elbow flexion contract... |
OMIM:272430 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Pulmonary artery stenosis, Coarse hair, Nail dystrophy |
ORPHA:75389 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Respiratory insufficiency |
OMIM:215100 |
Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restrictive venti... |
OMIM:181000 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Holoprosencephaly |
|
Brachydactyly, Median cleft lip, Anophthalmia, Bilateral cleft lip, Failure to thrive in infancy,... |
ORPHA:2162 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... |
OMIM:610125 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Resp... |
OMIM:601186 |
Walker-Warburg Syndrome |
|
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Micro... |
ORPHA:899 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... |
OMIM:257850 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polydactyly, Narrow p... |
OMIM:605627 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Erythrodontia, Splenomegaly, Cholelithiasis, Joint contracture of the hand, Thr... |
OMIM:263700 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foo... |
OMIM:305600 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Tracheomalacia, Emphysema, Peripheral pul... |
OMIM:613177 |
Omenn Syndrome |
|
Alopecia, Pneumonia, Thyroiditis, Erythroderma, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... |
ORPHA:3077 |
Pachyonychia Congenita |
|
Respiratory distress, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Finger... |
ORPHA:2309 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Meckel Syndrome |
|
Accessory spleen, Bowing of the long bones, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia... |
ORPHA:564 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Emphysema |
ORPHA:357074 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Dyspnea, Nail pits, Premature graying of hair, Interstitial pneumonitis, P... |
OMIM:127550 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail,... |
ORPHA:3253 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp... |
OMIM:261990 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microphthalmia, Failure ... |
ORPHA:2250 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Tachypnea, Finger clinodactyly, High palate, Short tibia, Finger syndactyly,... |
ORPHA:2751 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Acne, Hirsutism |
OMIM:615830 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails |
OMIM:242150 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy... |
ORPHA:763 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... |
ORPHA:2269 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Abnormally large globe, Ca... |
OMIM:269300 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Emphysema |
ORPHA:2962 |
Meier-Gorlin Syndrome 6 |
|
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema |
OMIM:616835 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Relapsing Polychondritis |
|
Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myoca... |
ORPHA:728 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pharyngitis, Recurrent upper respi... |
ORPHA:293978 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Neoplasm of the lung, Alopecia, Abnormal fingernail morphology, Sparse hair |
ORPHA:659 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Alopecia, Myositis, Psoriasiform dermatit... |
ORPHA:37042 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Thymus hyperplasia, Arachnodactyly, Micrognathia, Chylothorax, Tal... |
OMIM:619036 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Membranoproliferative glomerulonep... |
OMIM:137940 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Single transverse palmar crea... |
OMIM:607932 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Nail pits, Fine ... |
OMIM:308300 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow |
ORPHA:3242 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... |
ORPHA:2357 |
Joubert Syndrome 21 |
|
Anophthalmia, Apnea, Dyspnea, Splenomegaly, Respiratory failure, Dysphagia, Chronic sinusitis |
OMIM:615636 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Micrognathia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, Microphtha... |
ORPHA:3412 |
Immunodeficiency 7 |
|
Recurrent otitis media, Recurrent respiratory infections, Patchy alopecia, Chronic oral candidiasis |
OMIM:615387 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Thyr... |
OMIM:606367 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Crypto... |
ORPHA:138 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sclerosing cholangitis, Sparse hair |
OMIM:607626 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Cheilitis, Conjunctiviti... |
ORPHA:37 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splenomegaly, Asthma, Failure ... |
OMIM:612714 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Pulmonary fibrosis, Nail dysplasia, Decreased DLCO |
OMIM:613990 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Emphysema, Peripheral pulmonary art... |
ORPHA:90349 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Leukopenia, Poikilo... |
ORPHA:79277 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Chronic active hepatitis, Atrophic gastritis, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Myositis, Skin rash, Discoid lupus rash, Dyspnea, Arthritis, Pleural effusion, Malar ra... |
ORPHA:93552 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia |
OMIM:612079 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail |
OMIM:609638 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Kury-Isidor Syndrome |
|
Recurrent otitis media, Alopecia, Hypertrichosis |
OMIM:619762 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Nail dystrophy |
OMIM:618373 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... |
OMIM:259710 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Cryptorchidism, Anophthalmia |
ORPHA:77298 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Omenn Syndrome |
|
Alopecia, Pneumonia, Erythroderma |
OMIM:603554 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Hepatoerythropoietic Porphyria |
|
Erythroid hyperplasia, Hemolytic anemia, Erythrodontia, Splenomegaly |
ORPHA:95159 |
Keutel Syndrome |
|
Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sinusitis, Perip... |
OMIM:245150 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Aspiration |
OMIM:610768 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes |
ORPHA:2316 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Apnea, Recurrent skin infections, Seborrheic dermatitis, Tachypnea, Conjunct... |
OMIM:253260 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Hemochromatosis, Type 1 |
|
Alopecia, Pleural effusion |
OMIM:235200 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Emphysema, Hypoxemia |
ORPHA:284979 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Emphysema |
ORPHA:289 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... |
OMIM:613658 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Abnormal hair morphology, Alopecia, Thin nail, Small nail |
OMIM:242100 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infecti... |
ORPHA:169154 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Emphysema |
OMIM:224690 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Failure to thrive, Anophthalmia, Abnormal dental enamel morphology, Microgn... |
ORPHA:2556 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnormal pulmonary interstitial... |
OMIM:620233 |
Fabry Disease |
|
Dyspnea, Emphysema, Chronic pulmonary obstruction, Respiratory insufficiency |
ORPHA:324 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
Flynn-Aird Syndrome |
|
Alopecia |
ORPHA:2047 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair |
OMIM:605676 |
Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Tachypnea, Skin rash, Hyperventilation |
OMIM:253270 |
Alstrom Syndrome |
|
Alopecia, Chronic active hepatitis, Asthma, Recurrent pneumonia, Tubulointerstitial nephritis, Ot... |
OMIM:203800 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Respiratory insu... |
ORPHA:100924 |
Macs Syndrome |
|
Alopecia, Sparse eyebrow, Bronchiectasis, Recurrent aphthous stomatitis, Sparse hair |
OMIM:613075 |
Oslam Syndrome |
|
Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu... |
ORPHA:2760 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Alopecia, Apnea, Long eyelashes, Fair hair, Hirsutism, Pul... |
ORPHA:79330 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia |
ORPHA:563609 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela... |
ORPHA:544488 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Sparse hair, Absent fingernail, Pulmonary artery atresia,... |
ORPHA:974 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, ... |
OMIM:219000 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm |
OMIM:614437 |
Juvenile Dermatomyositis |
|
Alopecia, Myositis, Pericarditis, Skin rash, Dyspnea, Restrictive ventilatory defect, Arthritis, ... |
ORPHA:93672 |
Monosomy 18P |
|
Alopecia, Low posterior hairline |
ORPHA:1598 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Abnormal lun... |
ORPHA:35173 |
Sarcoidosis |
|
Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Pneumothorax, Bronchiectasis, Uppe... |
ORPHA:797 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Alopecia, Pancreatitis |
ORPHA:412057 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Abnormal palmar dermatoglyph... |
OMIM:214800 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Atrophic gastritis, Iridocyclitis, Abnormal pulmonary interstitial morphology, Hepatiti... |
ORPHA:227990 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis |
OMIM:109650 |
Bresek Syndrome |
|
Alopecia |
ORPHA:85284 |
Giant Cell Arteritis |
|
Alopecia, Pericarditis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Arthritis, ... |
ORPHA:397 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Orofacial cl... |
OMIM:309800 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Pleural effusion, Thick vermilion border, Chylothorax, Long philtrum, Microphthalmi... |
ORPHA:2526 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Recurrent pharyngitis, Bronchiect... |
ORPHA:168569 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Absent toenail, Respiratory failure, Absent fingernail, Congeni... |
ORPHA:158687 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Broad hallu... |
ORPHA:353281 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Atrophic gastritis, Iridocyclitis, Abnormal pulmonary interstitial morphology, Hepatiti... |
ORPHA:227982 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia |
OMIM:601853 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Conjunctivitis, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax |
ORPHA:558 |
Autosomal Dominant Cutis Laxa |
|
Bronchiolitis, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
ORPHA:90348 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Skin rash, Supernumerary nipple, Abnormal hair morpholo... |
ORPHA:464 |
Fraser Syndrome |
|
Finger syndactyly, Anophthalmia, Dental crowding, Toe syndactyly, Cleft upper lip, Cryptorchidism... |
ORPHA:2052 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus... |
ORPHA:141099 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Pneumothorax |
OMIM:154700 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Conj... |
OMIM:106260 |
Systemic Sclerosis |
|
Alopecia, Pericarditis, Osteomyelitis, Nail bed telangiectasia, Glomerulonephritis, Recurrent ski... |
ORPHA:90291 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... |
ORPHA:2969 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Aspiration, Abnormal repetitive... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Aspiration, Abnormal repetitive... |
ORPHA:353277 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Cryptor... |
OMIM:206900 |
Biotinidase Deficiency |
|
Respiratory distress, Alopecia, Apnea, Skin rash, Conjunctivitis, Eczematoid dermatitis, Hyperven... |
ORPHA:79241 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia, Small nail |
ORPHA:166035 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis |
OMIM:269200 |
Camurati-Engelmann Disease |
|
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Leuk... |
ORPHA:1328 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia |
ORPHA:85279 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Supernumerary nipple, Cleft upper lip, Micrognathi... |
OMIM:113620 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, High,... |
ORPHA:3472 |
Dyskeratosis Congenita |
|
Recurrent respiratory infections, Alopecia, Abnormal eyebrow morphology, Abnormal fingernail morp... |
ORPHA:1775 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Eczema, Thyroiditis, Recurrent aphthous stomatitis, Stomatitis |
OMIM:212750 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Tracheomalacia, Abnormality of hair texture, Sparse eyebrow, Uveitis,... |
ORPHA:2108 |
Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati... |
ORPHA:64 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:1647 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Seborrheic dermatitis |
OMIM:210210 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Eczema, Abnormal pattern of respiration, Abnormality of... |
ORPHA:428 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Nail dystrophy, Sparse ha... |
ORPHA:158668 |
Gapo Syndrome |
|
Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes |
ORPHA:2067 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Respiratory failure, Emphysema, Unilateral lung agenesis |
ORPHA:500150 |
Proteus Syndrome |
|
Pulmonary embolism, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of th... |
ORPHA:744 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Alopecia, Recurrent skin infections, Pneumonia, Dyspnea, Paronychia, Pneumo... |
ORPHA:79404 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Dyspnea, Nail dystrophy, Pulmonary... |
OMIM:614008 |
Chronic Graft Versus Host Disease |
|
Alopecia, Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiectasi... |
ORPHA:99921 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Nail dystrophy |
ORPHA:90154 |
Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern |
ORPHA:2315 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis |
OMIM:300219 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Ane Syndrome |
|
Alopecia |
ORPHA:157954 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Emphysema |
ORPHA:2834 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Skin rash, Pneumonia, Osteoarthritis, Nephritis, Hirsutism |
ORPHA:2298 |
Leigh Syndrome |
|
Alopecia, Eczema, Respiratory failure, Frontal hirsutism, Abnormal pattern of respiration, Hypert... |
ORPHA:506 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Peripheral pulmonary artery stenosis |
OMIM:613001 |
Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Alopecia, Cardiorespiratory arrest |
ORPHA:31824 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr... |
ORPHA:69085 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Acne, Hirsutism |
ORPHA:90795 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Acne, Hirsutism |
ORPHA:189427 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia |
ORPHA:90153 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
Systemic Lupus Erythematosus |
|
Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis |
ORPHA:536 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Hyperventilation |
OMIM:618775 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Alopecia, Absent eyebrow, Thin fingernail, Eczema... |
ORPHA:2273 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Low posterior hairline |
ORPHA:2959 |
Viss Syndrome |
|
Dyspnea, Asthma, Pneumothorax, Pulmonary artery aneurysm, Pulmonary arterial hypertension, Emphysema |
OMIM:619472 |
Bloom Syndrome |
|
Sparse eyelashes, Pneumonia, Bronchitis, Skin rash, Respiratory tract infection, Paronychia, Chro... |
ORPHA:125 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai... |
OMIM:305000 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyebrow, Small nail, Nail dysplasia, Sparse... |
ORPHA:2909 |
Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
Focal Dermal Hypoplasia |
|
Aplasia/Hypoplasia of the lungs, Alopecia, Abnormality of the nail, Abnormality of the pulmonary ... |
ORPHA:2092 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Nail dystrophy, Onychogryposis |
ORPHA:79396 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Fasciitis, Abnormality on pulmonary function testing, Uveitis, A... |
ORPHA:90289 |
Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis |
OMIM:277440 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections, Cough |
ORPHA:2314 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Skin rash, Pustule, Myocarditis, Abnormal pulmonary interstitial morphology, Pleural ef... |
ORPHA:50918 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia |
ORPHA:98907 |
Leprosy |
|
Absent eyebrow, Alopecia, Epistaxis, Loss of eyelashes, Uveitis, Iritis, Sparse body hair |
ORPHA:548 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Eczema, Recurrent skin inf... |
OMIM:308205 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon... |
OMIM:263650 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Onychogryposis |
OMIM:248370 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair |
OMIM:302960 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Keratoconjunctivitis sicca, Alopecia, Periodontitis |
ORPHA:536532 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Decreased body weight, Coxa valga,... |
OMIM:182250 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Neoplasm of the ... |
ORPHA:79474 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Coarse hair, Sparse hair, Chronic otitis media |
ORPHA:2750 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Alopecia, Long eyelashes, Fingernail dysplasia, Chronic otitis ... |
ORPHA:1507 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Pulmonary hypoplasia, Small nail |
OMIM:308050 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Partial duplication of th... |
OMIM:164210 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
Sympathetic Ophthalmia |
|
Alopecia, Posterior uveitis, Poliosis |
ORPHA:79098 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... |
OMIM:149730 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia |
ORPHA:2612 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Pulmonary artery stenosis, Small nail, Pulmonary arterial hyperte... |
OMIM:100300 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Alopecia, Eczema, Tracheomalacia, Recurrent otitis media, Fair ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Alopecia, Eczema, Tracheomalacia, Recurrent otitis media, Fair ... |
ORPHA:363958 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Absent eyebrow, Alopecia, Pneumonia, Sparse ... |
OMIM:264090 |
Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Pulmonary arterial hypertension, Alopecia |
ORPHA:2396 |
Xeroderma Pigmentosum |
|
Keratitis, Alopecia, Blepharitis |
ORPHA:910 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... |
ORPHA:221008 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis |
ORPHA:319213 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi... |
ORPHA:3107 |
Sotos Syndrome |
|
Small cell lung carcinoma, Pulmonary bleb |
ORPHA:821 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... |
ORPHA:221016 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Alopecia, Dyspnea, Loss of eyelashes, Respiratory failure, Thin eyebrow, Sparse hair |
ORPHA:2636 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
Granulomatous Disease, Chronic, X-Linked |
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Atelectasis, Pleural effusion, Recurrent pneumonia, Cough |
OMIM:306400 |
Scalp-Ear-Nipple Syndrome |
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Sparse axillary hair, Sparse pubic hair, Fine hair, Pyelonephritis, Patchy alopecia, Breast aplas... |
OMIM:181270 |
Steinert Myotonic Dystrophy |
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Respiratory failure requiring assisted ventilation, Alopecia, Respiratory insufficiency due to mu... |
ORPHA:273 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli... |
ORPHA:99413 |
Turner Syndrome |
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Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli... |
ORPHA:881 |
Mosaic Monosomy X |
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Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli... |
ORPHA:99228 |
Monosomy X |
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Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli... |
ORPHA:99226 |
Short-Rib Thoracic Dysplasia 12 |
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Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:269860 |
African Trypanosomiasis |
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Alopecia, Pericarditis, Keratitis, Myocarditis, Optic neuritis, Conjunctivitis, Iritis, Myelitis |
ORPHA:3385 |
Zygomycosis |
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Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Acute infectious pneumonia, Cough, Pleural effus... |
ORPHA:73263 |
Hutchinson-Gilford Progeria Syndrome |
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Absent eyebrow, Alopecia totalis, Osteoarthritis, Loss of eyelashes, Upper airway obstruction, Pa... |
ORPHA:740 |
Woodhouse-Sakati Syndrome |
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Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
Chand Syndrome |
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Atelectasis |
ORPHA:1401 |
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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Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Osteoarthritis, Pneumothorax,... |
ORPHA:286 |
22Q11.2 Deletion Syndrome |
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Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation |
ORPHA:567 |
Oculocerebrorenal Syndrome Of Lowe |
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Atelectasis, Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:534 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... |
OMIM:601803 |
Digeorge Syndrome |
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Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent sinusitis |
OMIM:188400 |