| Uncombable Hair Syndrome 2 |
|
Juvenile cataract, Pili canaliculi, Uncombable hair |
OMIM:617251 |
| Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
| Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
| Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
| Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
| Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
| Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
| Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
| Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234030 |
| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
| Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
| Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
| Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
| Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
| Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
| Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
| Dwarfism, Familial, With Muscle Spasms |
|
Fine hair, Short stature, Severe short stature, Brittle scalp hair, Sparse scalp hair |
OMIM:600771 |
| Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Microcornea |
OMIM:610202 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse eyelashes, Palmoplantar keratoderma, Sparse pubic hair, Sparse hair, Palmoplantar hyperker... |
ORPHA:189 |
| Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... |
ORPHA:573 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Microcornea, Microphthalmia |
OMIM:251505 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Cataract |
OMIM:300719 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:202 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
| Cataract 2, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract |
OMIM:604307 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Bazex Syndrome |
|
Acanthosis nigricans, Liposarcoma, Lung adenocarcinoma, Yellow nails, Nail dystrophy, Palmoplanta... |
ORPHA:166113 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Witkop Syndrome |
|
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits |
OMIM:189500 |
| Trichodental Dysplasia |
|
Fine hair, Brittle hair, Sparse hair, Slow-growing hair |
OMIM:601453 |
| Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Hypotrichosis 7 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:604379 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Hypotrichosis 6 |
|
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:607903 |
| Congenital Primary Aphakia |
|
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... |
ORPHA:83461 |
| Dwarfism, Mental Retardation, And Eye Abnormality |
|
Nuclear cataract, Hypoplasia of the iris |
OMIM:223540 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
| Pili Torti, Early-Onset |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:261900 |
| Erythrokeratodermia Variabilis |
|
Neoplasm of the skin, Patchy palmoplantar hyperkeratosis, Cutaneous photosensitivity, Short statu... |
ORPHA:317 |
| Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
| Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
| Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Brittle hair, Short stature, Coarse hair |
OMIM:616390 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Sclerocornea, Congenital aphakia, Aniridia, Pete... |
OMIM:610256 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation |
OMIM:157150 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Growth delay, Abnormality of hair texture, Pili torti, Sparse or absent eyelashes, Aplasia/Hypopl... |
ORPHA:2891 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Trichomegaly |
|
Long eyelashes, Cataract |
OMIM:190330 |
| Cataract 11, Multiple Types |
|
Microphthalmia, Cataract |
OMIM:610623 |
| Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Short stature, Onycholysis, Abnormality of hair texture |
OMIM:270300 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma |
OMIM:616428 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Acquired Ichthyosis |
|
Multiple myeloma, Pruritus, Erythema, Palmoplantar keratoderma, Neoplasm, Lymphoma, Sarcoma, Recu... |
ORPHA:454 |
| Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
| Pili Torti-Onychodysplasia Syndrome |
|
Keloids, Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Palmoplantar k... |
ORPHA:2890 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Chorioretinal coloboma, Cataract |
OMIM:274205 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Short stature, Absent pubic hair, Brittle h... |
OMIM:129500 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Fine hair, Short stature, Brittle hair, Pili torti, Sparse scalp hair |
ORPHA:1573 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... |
OMIM:605389 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Epidermal hyperkeratosis, Brittle hair, Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Palmo... |
OMIM:104100 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Neoplasm of the skin, Dementia, Cutaneous photosensitivity, Short stature, Tremor, Defective DNA ... |
OMIM:278760 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Lens coloboma, Microspherophakia, Lens subluxation |
OMIM:157151 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Generalized hyperkeratosis,... |
ORPHA:2269 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
| Moynahan Syndrome |
|
Cachexia, Short stature, Alopecia, Hypogonadism, Hyperkeratosis, Sparse hair |
ORPHA:2574 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
| Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Nuclear cataract |
OMIM:617547 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Hypogonadism, Developmental cataract, Generalized hypertrichosis |
ORPHA:1383 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Short stature, Brittle hair, Coarse hair, Kyphosis, Camptodactyly of finger, Hyperkeratosis, Spar... |
ORPHA:1883 |
| Progeroid Syndrome, Petty Type |
|
Shagreen patch, Long eyelashes in irregular rows, Abnormal hair morphology, Cutis laxa, Short sta... |
ORPHA:2963 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Fragile nails, Cataract |
ORPHA:254704 |
| Trichohepatoenteric Syndrome 2 |
|
Intrauterine growth retardation, Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair... |
OMIM:614602 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
| Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
| Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Alopecia of scalp, Kyphoscoliosis, Osteoporosis, Alop... |
OMIM:136300 |
| Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Nail dystrophy, Alopecia, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital no... |
ORPHA:79395 |
| Pilodental Dysplasia With Refractive Errors |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Abnormality of the nail |
OMIM:262020 |
| Parana Hard Skin Syndrome |
|
Growth delay, Generalized hyperpigmentation, Short stature, Restricted chest movement, Thickened ... |
ORPHA:2812 |
| Oculotrichodysplasia |
|
Sparse eyelashes, Dry skin, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... |
OMIM:257960 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Short stature, Thin nail, Nail dystrophy, Osteoporosis, Absent eyebrow, Absent eyelashes, Male hy... |
OMIM:618625 |
| Hypotrichosis 14 |
|
Sparse hair, Sparse body hair |
OMIM:618275 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Cutaneous photosensitivity, Growth delay, Tremor, Defective DNA repair after ultraviolet radiatio... |
OMIM:278780 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Dry skin, Small for gestational age, Short stature, Brittle hair, Ichthyosis,... |
OMIM:616943 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse and thin eyebrow, Alopecia, Palmoplantar keratoderma, Hypoplastic toenails, Abnormal finge... |
ORPHA:2722 |
| Hypotrichosis Simplex Of The Scalp |
|
Fine hair, Alopecia of scalp, Slow-growing scalp hair, Parakeratosis, Hyperkeratosis, Scaling ski... |
ORPHA:90368 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse scalp hair, Sparse pubic hair, Perifollicular hyperkeratosis, Sparse axillary hair |
ORPHA:505 |
| Trichothiodystrophy 1, Photosensitive |
|
Fine hair, Tiger tail banding, Small nail, Small for gestational age, Short stature, Freckling, A... |
OMIM:601675 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Coloboma, Microphthalmia, Cataract |
OMIM:120433 |
| Cataract-Hypertrichosis-Intellectual Disability Syndrome |
|
Low posterior hairline, Developmental cataract, Generalized hirsutism |
ORPHA:1375 |
| Bathing Suit Ichthyosis |
|
Nail dystrophy, Alopecia, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform eryt... |
ORPHA:100976 |
| Uncombable Hair Syndrome 3 |
|
Curly hair, Pili canaliculi, Uncombable hair |
OMIM:617252 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Abnormal hair morph... |
ORPHA:69125 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism, Cataract |
OMIM:312910 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism, Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Microphthalmia |
ORPHA:2432 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:602400 |
| Insulin-Resistance Syndrome Type A |
|
Delayed puberty, Generalized hirsutism, Generalized hyperpigmentation, Hyperkeratosis |
ORPHA:2297 |
| Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair, Short stature |
OMIM:616395 |
| Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Iris coloboma, Bilateral microphthalmos |
OMIM:611638 |
| Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Neoplasm of the skin, Defective DNA repair after ultraviolet radiation damage, Erythema |
OMIM:194400 |
| Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly |
OMIM:609218 |
| Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Stomach cancer, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, Gastrointe... |
ORPHA:2930 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Osteoporosis, Platyspondyly, Albinism, Kyphosis, Hypopigmentation of the skin, Pal... |
ORPHA:2786 |
| Acrokeratosis Verruciformis |
|
Ridged nail, Acrokeratosis, Hyperkeratosis, Epidermal acanthosis |
OMIM:101900 |
| Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:614819 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism, Cataract |
OMIM:254000 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal hair morphology, Abnormality of skin pigmentation, Weight loss, Lipodystrophy,... |
ORPHA:1979 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Chorioretinal coloboma, Microphthalmia, Cataract, Iris coloboma |
OMIM:212550 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair |
OMIM:194300 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Severe postnatal growth retardation, Short stature, Anterior rib punctate calci... |
ORPHA:35173 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Peters anomaly, Iris coloboma, Coloboma, Ocular anterior segment dysgenesis |
OMIM:610023 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Dry skin, Palmoplantar scaling skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperk... |
ORPHA:530838 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp... |
OMIM:225060 |
| Classic Mycosis Fungoides |
|
Hypopigmented skin patches, Neoplasm of the skin, Hepatomegaly, Lymphadenopathy, Alopecia, Abnorm... |
ORPHA:2584 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Abnormal eyebrow morphology, Cataract, Iris hypop... |
ORPHA:85194 |
| Netherton Syndrome |
|
Failure to thrive, Brittle hair, Sparse scalp hair, Parakeratosis, Congenital nonbullous ichthyos... |
OMIM:256500 |
| Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
| Congenital Microcoria |
|
Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H... |
ORPHA:566 |
| Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Microphthalmia, Chorioretinal coloboma, Posterior embryotoxon,... |
OMIM:612109 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma, Microphthalmia |
OMIM:614497 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Alopecia, Intrauterine growth retardation, Short stature |
ORPHA:50812 |
| Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
Cerulean cataract |
OMIM:616732 |
| Trichothiodystrophy |
|
Neutropenia, Brittle hair, Fragile nails, Increased bone mineral density, Ichthyosis, Abnormal py... |
ORPHA:33364 |
| Cataract 42 |
|
Developmental cataract |
OMIM:115900 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Biconcave vertebral bodies, Failure to thrive, Kyphoscoliosis, Osteoporosis, Brittle hair, Homocy... |
OMIM:236200 |
| Galactokinase Deficiency |
|
Nuclear cataract, Cataract, Premature ovarian insufficiency, Hypergonadotropic hypogonadism |
ORPHA:79237 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
| Verrucous Hemangioma |
|
Hemangioma, Epidermal acanthosis, Hyperkeratotic papule, Papilloma |
ORPHA:464318 |
| Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Pruritus, Erythema, Follicular hyperkeratosis, Neurofibromas |
ORPHA:79100 |
| Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Pruritus, Recurrent skin infections, Cataract, Facial erythema, Dry sk... |
OMIM:603165 |
| Angioma Serpiginosum, X-Linked |
|
Fine hair, Nail dystrophy, Sparse hair |
OMIM:300652 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| Autosomal Dominant Keratitis |
|
Microcornea, Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic ir... |
ORPHA:2334 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Hyperkeratosis, Sclerodactyly, Nail dysplasia, Facial erythema,... |
OMIM:212360 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Diffuse palmoplantar... |
OMIM:617294 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... |
OMIM:616099 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Sparse eyelashes, Small nail, Growth delay, Brittle hair, Trichorrhexis nodosa, Abnormality of ha... |
OMIM:234050 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... |
ORPHA:64745 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Kyphoscoliosis, Alopecia, Reduced subcutaneous adipose tissue, Hyperpigmentation of the skin, Mel... |
OMIM:612079 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Alopecia, Woolly scalp hair, Woolly hair |
OMIM:601217 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Developmental cataract, Sparse hair, Microphthalmia, Cataract |
OMIM:610756 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Cutis laxa, Intrauterine growth retardation, Failure to thrive, Brittle hair, Lipodystrophy, Coar... |
OMIM:219200 |
| Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
| Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasi... |
OMIM:604229 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer |
ORPHA:2337 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma, Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Catarac... |
ORPHA:1067 |
| Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
| Osteopenia And Sparse Hair |
|
Joint laxity, Sparse hair, Osteopenia |
OMIM:259690 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Anemia |
ORPHA:2802 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Spinal canal stenosis, Epidermal acanthosis, Thin bony cortex, Depigment... |
OMIM:176920 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, T lymphocytopenia, Nail pits |
ORPHA:169095 |
| Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Remnants of the hyal... |
ORPHA:231736 |
| Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Abnormal fingernail morphology, Cataract, Premature ovarian insufficiency |
ORPHA:2278 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Developmental cataract, Microphthalmia, Ocular anterior segment dysgenesis |
ORPHA:324416 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin |
OMIM:617571 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Dystrophic toenail, Failure to thrive, Absent toenail, Atrophic scars, Ridged nail, Hyperpigmenta... |
ORPHA:89838 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos, Cataract |
OMIM:608763 |
| Peeling Skin Syndrome 4 |
|
Nail dystrophy, Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling ski... |
OMIM:607936 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Tiger tail banding, Intrauterine growth retardation, Short stature, Brittle hair, Slow-growing ha... |
OMIM:300953 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Ataxia, Alopecia, Sparse hair |
OMIM:212835 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair, Growth delay |
OMIM:246500 |
| Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
| Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Astrocytosis |
OMIM:600333 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Microphthalmia, Cataract, Retinal coloboma |
OMIM:601794 |
| Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Intrauterine growth retardation, Short stature, Abnormal dental enamel mo... |
ORPHA:1133 |
| Nance-Horan Syndrome |
|
Posterior Y-sutural cataract, Microcornea, Microphthalmia, Developmental cataract |
OMIM:302350 |
| Werner Syndrome |
|
Ovarian neoplasm, Secondary amenorrhea, Thyroid carcinoma, Meningioma, Short stature, Acral lenti... |
ORPHA:902 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Ca... |
ORPHA:1473 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis, Small nail, Abnormal hair morphology, Growth delay, Thin nail, Erythema, Alopecia, Pal... |
OMIM:242100 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Cutaneous Collagenous Vasculopathy |
|
Diffuse telangiectasia, Petechiae, Vascular skin abnormality, Pruritus, Erythema, Prominent super... |
ORPHA:280779 |
| Cole Disease |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis |
OMIM:615522 |
| Retinitis Pigmentosa 56 |
|
Nuclear cataract, Posterior subcapsular cataract |
OMIM:613581 |
| Idiopathic Localized Lipodystrophy |
|
Absence of subcutaneous fat, Erythema, Reduced subcutaneous adipose tissue, Morphea, Lipoatrophy,... |
ORPHA:90158 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Idiopathic Anterior Uveitis |
|
Nuclear cataract, Posterior subcapsular cataract, Posterior synechiae of the anterior chamber |
ORPHA:280914 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Microphthalmia, Cataract, Retinal coloboma |
ORPHA:363741 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Growth delay, Ascites, Lymphadenopathy, Alopecia, Anemia, Lymphoma, Splenomegaly, P... |
ORPHA:100025 |
| Oliver-Mcfarlane Syndrome |
|
Small for gestational age, Hypogonadotropic hypogonadism, Alopecia, Long eyelashes, Severe short ... |
OMIM:275400 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
B lymphocytopenia, Failure to thrive in infancy, Psoriasiform dermatitis, Patchy alopecia, Lympha... |
OMIM:606367 |
| Maculopapular Cutaneous Mastocytosis |
|
Pruritus, Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Irr... |
ORPHA:79457 |
| Cardiofaciocutaneous Syndrome |
|
Generalized hyperpigmentation, Short stature, Brittle hair, Palmoplantar keratoderma, Ichthyosis,... |
ORPHA:1340 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Short stature, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Failure to thrive... |
ORPHA:337 |
| Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcornea, Microphthalmia, Cataract |
OMIM:616171 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Intrauterine growth retardation, Short stature, Nail dystrophy, Brittle hair, Alopecia, Coarse hair |
ORPHA:75389 |
| Jessner Lymphocytic Infiltration Of The Skin |
|
Pruritus, Erythema, Cutaneous photosensitivity |
ORPHA:33314 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Brittle hair,... |
OMIM:608612 |
| Alopecia-Intellectual Disability Syndrome |
|
Growth delay, Short stature, Alopecia, Ichthyosis, Flexion contracture, Hypergonadotropic hypogon... |
ORPHA:2850 |
| Pseudoprogeria Syndrome |
|
Growth delay, Short stature, Failure to thrive, Alopecia, Absent eyebrow, Absent eyelashes, Thin ... |
ORPHA:2985 |
| Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Short stature, Dysmetria, Hypogonadotropic hypogonadism, Osteopo... |
ORPHA:48431 |
| Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Growth delay, Erythema, Spastic tetraplegia, Hypertonia, Scaling skin, Ichthyosis, Flexion contra... |
OMIM:614457 |
| Aicardi-Goutieres Syndrome 5 |
|
Scaling skin, Spasticity, Flexion contracture, Dry skin, Thrombocytopenia |
OMIM:612952 |
| Flynn-Aird Syndrome |
|
Bone cyst, Cachexia, Alopecia, Kyphosis, Ataxia, Joint stiffness, Scoliosis, Skin ulcer |
ORPHA:2047 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
| Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
| Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Cataract, Male hypogonadism |
OMIM:240950 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Alopecia, N... |
ORPHA:79397 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Coloboma, Cataract |
OMIM:607906 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er... |
ORPHA:87503 |
| Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin, Erythema, Skin ulcer |
ORPHA:31112 |
| Cahmr Syndrome |
|
Lamellar cataract, Generalized hypertrichosis |
OMIM:211770 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia, Thickened skin |
OMIM:247100 |
| Pachyonychia Congenita 4 |
|
Nail dystrophy, Palmoplantar keratoderma, Steatocystoma multiplex, Hyperkeratosis |
OMIM:615728 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Pallor, Anemia, Splenomegaly |
ORPHA:46532 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Hypopigmented skin patches, Onychogryposis of fingernail, Fingernail dysplasia, Hyperpigmentation... |
ORPHA:2251 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Centrifugal Lipodystrophy |
|
Lack of facial subcutaneous fat, Absence of subcutaneous fat, Alopecia, Reduced subcutaneous adip... |
ORPHA:90156 |
| Vibratory Urticaria |
|
Facial erythema, Urticaria, Flushing |
OMIM:125630 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anonychia, Growth delay, Abnormality of skin pigmentation, Nail dystrophy, Atrophic scars, Scarri... |
ORPHA:79402 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair, Ichthyosis |
ORPHA:91132 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Coronal cleft vertebrae, Epiphyseal stippling, Kyphoscoliosis, Alopecia, Rhizomelia, Calcific sti... |
OMIM:215100 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Short stature, Dorsocervical fat pad, Osteoporosis, Delayed puberty, Primary amenorrhea, Short ne... |
OMIM:616033 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Nuclear cataract, Sparse eyelashes, Absent hair, Ridged nail, Nail dystrophy, Sparse eyebrow, Abs... |
ORPHA:1010 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
| Microphthalmia, Isolated 3 |
|
Anophthalmia, Sclerocornea, Microphthalmia |
OMIM:611038 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Abnormality of the vertebral column, Short stature, Abnormal vertebral morphology, Nail dystrophy... |
OMIM:308205 |
| Primary Myelofibrosis |
|
Ecchymosis, Leukocytosis, Cachexia, Thrombocytosis, Petechiae, Hemangioma, Anemia, Splenomegaly, ... |
ORPHA:824 |
| Uveal Melanoma |
|
Mydriasis, Zonular cataract, Iris melanoma, Inferior lens subluxation, Ciliary body melanoma |
ORPHA:39044 |
| Mastocytosis, Cutaneous |
|
Urticaria, Cutaneous mastocytosis, Erythema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Keratoderma Hereditarium Mutilans |
|
Hypogonadotropic hypogonadism, Alopecia, Abnormal toenail morphology, Abnormality of the nail, Ho... |
ORPHA:494 |
| Cutaneous Small Vessel Vasculitis |
|
Erythema, Urticaria, Cutis marmorata, Recurrent skin infections, Skin rash, Purpura |
ORPHA:889 |
| Erythrokeratoderma ''En Cocardes'' |
|
Neoplasm of the skin, Neoplasm, Hyperkeratosis |
ORPHA:315 |
| Warburg Micro Syndrome 1 |
|
Hypertrichosis, Short stature, Failure to thrive, Kyphoscoliosis, Osteoporosis, Facial hypertrich... |
OMIM:600118 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Sparse hair, Palmoplantar hyperkeratosis, Dystrophic fingernails |
OMIM:604536 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Onycholysis, Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Scaling skin, Epidermal acant... |
OMIM:616295 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:617525 |
| Thumb Deformity And Alopecia |
|
Increased groin pigmentation with raindrop depigmentation, Alopecia, Short stature |
OMIM:188150 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Nail dystrophy, Ichthyosis, Flexion contracture, Hyperkeratosis, Diffuse palmoplantar hyperkeratosis |
ORPHA:79503 |
| Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Omphalocele, Highly arched eyebrow, Small for gestational age, Elevated circulating follicle stim... |
OMIM:618419 |
| Mycosis Fungoides |
|
Neoplasm of the skin, Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Lymphoma |
OMIM:254400 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis, Epidermal acanthosis |
OMIM:615598 |
| Forsythe-Wakeling Syndrome |
|
Growth delay, Short stature, Osteoporosis, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Sjögren-Larsson Syndrome |
|
Corneal erosion, Short stature, Erythema, Urticaria, Hyperkeratosis, Dry skin |
ORPHA:816 |
| Progressive Symmetric Erythrokeratodermia |
|
Erythema, Palmoplantar keratoderma |
ORPHA:316 |
| Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Hirsutism, Failure to thrive, Kyphoscoliosis, Osteoporosis, Arthrogryposis multiplex congenita, J... |
OMIM:214150 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis, Hypergonadotropic hypogonadism |
ORPHA:1014 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Interphalangeal joint contracture of finger, Sparse hair, Intrauterine growth retardation, Short ... |
OMIM:606242 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Intrauterine growth retardation, Failure to thrive, Nail dystrophy, Alopecia, Ataxia, Sparse hair |
OMIM:616353 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue, Vasculitis i... |
ORPHA:90159 |
| 2Q24 Microdeletion Syndrome |
|
Coloboma, Microphthalmia, Cataract, Abnormality iris morphology |
ORPHA:1617 |
| Congenital Panfollicular Nevus |
|
Hamartoma, Hyperkeratosis |
ORPHA:139414 |
| Diencephalic Syndrome |
|
Neoplasm of the nervous system, Cachexia, Decreased body weight, Long penis |
ORPHA:1672 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue |
ORPHA:90160 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
| Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Growth delay, Short stature, Failure to thrive, Kyphoscoliosis, Osteoporosis, Amelo... |
OMIM:614727 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Syndromic Diarrhea |
|
Short stature, Brittle hair, Hypoplasia of the thymus, Splenomegaly, Woolly hair, Increased mean ... |
ORPHA:84064 |
| Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule, Erythema |
ORPHA:346 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Small nail, Growth delay, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Anisocytosi... |
OMIM:615631 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal hyperkeratosis, Interphalangeal joint contracture of finger, Hypergranulosis, Palmoplan... |
ORPHA:2199 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Growth delay, Brittle hair, Sid... |
OMIM:616084 |
| Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Ataxia, Hypertonia, Scaling skin, Flexion contracture, Hyperkeratosis, Dry skin |
OMIM:609180 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia, Progressive neurologic deterioration |
OMIM:612075 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Intrauterine growth retardation, Subcutaneous hemorrhage |
ORPHA:1980 |
| Kerion Celsi |
|
Lymphadenopathy, Alopecia |
ORPHA:499 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail, Severe short stature |
OMIM:302000 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Erythema, Pustule |
ORPHA:222 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, Decreased helper T cell proportion, T lymphocytopenia, Nai... |
OMIM:601705 |
| Erythema Nodosum, Familial |
|
Erythema, Erythema nodosum |
OMIM:132990 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
| Parc Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes |
OMIM:600331 |
| Microphthalmia, Syndromic 13 |
|
Coloboma, Microcornea, Microphthalmia |
OMIM:300915 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Fine hair, Failure to thrive in infancy, Intrauterine growth retardation, Small for gestational a... |
OMIM:618891 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Short stature, Nail dystrophy, Enamel hypoplasia, Hyperkeratosis, Anonychia, Epidermal acanthosis |
OMIM:616029 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Macs Syndrome |
|
Cutis laxa, Short stature, Osteoporosis, Alopecia, Redundant skin, Joint hypermobility, Ichthyosi... |
OMIM:613075 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Mulibrey Nanism |
|
Cachexia, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Enamel hypoplasia, ... |
OMIM:613573 |
| Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis |
|
Erythema, Palmoplantar hyperkeratosis |
OMIM:607602 |
| Isolated Aniridia |
|
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Abnormal hair morphology, Short stature, Fractures of the long bones, Nail dystrophy, Osteoporosi... |
ORPHA:319195 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Ovarian neoplasm, Acanthosis nigricans, Neoplasm of the breast, Neoplasm of the respir... |
ORPHA:2221 |
| Porphyria Cutanea Tarda |
|
Onycholysis, Hepatocellular carcinoma, Alopecia, Facial hypertrichosis, Scleroderma |
OMIM:176100 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Juvenile cataract, Sparse hair, Uncombable hair |
ORPHA:1264 |
| Olmsted Syndrome 2 |
|
Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Woolly hair, Hyperkeratosis, Al... |
OMIM:619208 |
| Rhizomelic Chondrodysplasia Punctata |
|
Growth delay, Short stature, Epiphyseal stippling, Rhizomelia, Alopecia, Ichthyosis, Limitation o... |
ORPHA:177 |
| Menkes Disease |
|
Cutis laxa, Intrauterine growth retardation, Short stature, Osteoporosis, Hypopigmentation of the... |
OMIM:309400 |
| Progressive Non-Fluent Aphasia |
|
Astrocytosis |
ORPHA:100070 |
| Norrie Disease |
|
Microphthalmia, Shallow anterior chamber, Hypoplasia of the iris, Cataract, Opacification of the ... |
OMIM:310600 |
| Hypotrichosis 10 |
|
Sparse eyelashes, Sparse eyebrow, Sparse body hair |
OMIM:614238 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Sézary Syndrome |
|
Neoplasm of the skin, Hepatomegaly, Lymphadenopathy, Nail dystrophy, Alopecia, Abnormal lymphocyt... |
ORPHA:3162 |
| Primary Erythromelalgia |
|
Leukemia, Pruritus, Erythema |
ORPHA:90026 |
| Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyelashes, Acantholysis, Failure to thrive, Nail dystrophy, Alopecia, Palmoplantar keratos... |
OMIM:607655 |
| Psoriasis 2 |
|
Psoriasiform dermatitis, Parakeratosis, Hyperkeratosis, Scaling skin, Epidermal acanthosis |
OMIM:602723 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Fine hair, Neoplasm of the skin, Adenoma sebaceum, Sparse lateral eyebrow, Brittle hair, Palmopla... |
ORPHA:3353 |
| Acrokeratosis Verruciformis Of Hopf |
|
Verrucae, Nail dystrophy, Hypergranulosis, Leukonychia, Hyperkeratosis, Punctate palmoplantar hyp... |
ORPHA:79151 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema, Palmoplantar keratoderma |
OMIM:617524 |
| Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Astrocytosis |
OMIM:172500 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Palmoplantar hyperkeratosis, Spastic paraplegia |
OMIM:309560 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Highly arched eyebrow, Short stature, Brittle hair, Long eyelashes, Thick eyebrow, Synophrys |
OMIM:617412 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Shagreen patch, Alopecia of scalp, Abnormal hair quantity, Kyphosis, Reduced bone mineral density... |
ORPHA:2617 |
| Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis |
OMIM:615023 |
| Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
| Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair |
OMIM:164680 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Alopecia universalis, Abnormal eyelash mo... |
ORPHA:1008 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Rodrigues Blindness |
|
Fine hair, Microphthalmia, Sclerocornea, Microcornea, Sparse hair |
OMIM:268320 |
| Kid Syndrome |
|
Trichilemmoma, Neoplasm of the skin, Sparse eyelashes, Palmoplantar keratoderma, Postnatal growth... |
ORPHA:477 |
| Classic Galactosemia |
|
Decreased fertility in females, Secondary amenorrhea, Clumsiness, Postural tremor, Oligomenorrhea... |
ORPHA:79239 |
| Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia |
OMIM:613094 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:617115 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Short stature, Hypogonadism, Obesity, Cryptorchidism, Sparse body hair |
ORPHA:85274 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Sclerocornea, Long eyelashes, Cataract, Coloboma, Microcornea, Ecto... |
OMIM:615877 |
| Cutaneous Mastocytoma |
|
Angioedema, Pruritus, Erythema, Telangiectasia of the skin, Dermatographic urticaria, Darier's si... |
ORPHA:79455 |
| Pachydermoperiostosis |
|
Neoplasm of the skin, Hepatomegaly, Neoplasm of the lung, Cerebral palsy, Thickened skin, Osteopo... |
ORPHA:2796 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
| Shashi-Pena Syndrome |
|
Highly arched eyebrow, Osteoporosis, Scoliosis, Kyphosis |
OMIM:617190 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
| Spinocerebellar Ataxia 48 |
|
Cachexia, Tremor, Irritability, Mental deterioration, Anxiety |
OMIM:618093 |
| Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Alopecia, Palmoplantar keratoderma, Squamous cell carcino... |
ORPHA:50944 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intrauterine growth retardation, Short stature, Increased susceptibility to fractures, Osteoporos... |
OMIM:612199 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Osteoporosis, Anemia, Splenome... |
ORPHA:100024 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss, Erythema, Urticaria |
ORPHA:703 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Psoriasiform lesion, Failure to thrive, Lymphadenopathy, Alopecia, Decreased proport... |
ORPHA:169154 |
| Cardiofaciocutaneous Syndrome 3 |
|
Short stature, Failure to thrive, Webbed neck, Reduced bone mineral density, Curly hair, Hyperker... |
OMIM:615279 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Thin eyebrow, Webbed neck, Atrophic scars, Osteoporosis, Low posterior hairline, Inguinal hernia,... |
OMIM:618000 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Amenorrhea, Azoospermia, Ascites, Hyp... |
OMIM:235200 |
| Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Short stature, Failure to thrive, Nail dystrophy, Osteoporosis, Bone marrow hypocellu... |
OMIM:613989 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Brain neoplasm, Basal cell carcinoma, Palmoplantar keratoderma, Neoplasm of the skeletal system, ... |
ORPHA:79501 |
| Mcdonough Syndrome |
|
Cachexia, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Synophrys |
ORPHA:2471 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Acanthosis nigricans, Short stature, Abnormal hair pattern, Kyphosis, Hypogonadism, Tre... |
ORPHA:85293 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Growth delay, Short stature, Nail dystrophy, Brittle hair |
ORPHA:93947 |
| Angioma Serpiginosum |
|
Erythema, Vascular skin abnormality |
ORPHA:95429 |
| X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Neutropenia, Short stature, Failure to thrive, Weight loss, Alopecia,... |
ORPHA:47 |
| Lichtenstein Syndrome |
|
C1-C2 subluxation, Hirsutism, Neutropenia, Increased susceptibility to fractures, Osteoporosis, E... |
OMIM:246550 |
| Hemoglobin E Disease |
|
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... |
ORPHA:2133 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Congenital nonbullous ichthyos... |
OMIM:612281 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Short stature, Osteoporosis, Reduced subcutaneous adipose tissue, Coarse hair, Recurrent fracture... |
OMIM:248010 |
| Xq27.3Q28 Duplication Syndrome |
|
Intrauterine growth retardation, Short stature, Failure to thrive, Truncal obesity, Hypogonadism,... |
ORPHA:261483 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Palmoplantar keratoderma, Woolly hair |
OMIM:610476 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Nail-Patella Syndrome |
|
Anonychia, Lester's sign, Microphakia, Ridged nail, Antecubital pterygium, Cataract, Concave nail... |
OMIM:161200 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Neoplasm of the skin, Erythroderma, Pustule, Acantholysis, Pruritus, Ery... |
ORPHA:79481 |
| Porphyria Cutanea Tarda |
|
Hirsutism, Scarring, Hepatocellular carcinoma, Hypertrichosis, Corneal scarring, Elevated hepatic... |
ORPHA:101330 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Telangiectasia of the skin, Fragile skin, Squamou... |
ORPHA:542592 |
| Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Short stature, Osteoporosis, Inguinal hernia, Kyphosis, Splenomegaly, Trem... |
ORPHA:87876 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Spotty hyperpigmentation, Hypermel... |
ORPHA:79399 |
| Sydenham Chorea |
|
Emotional lability, Erythema, Irritability |
ORPHA:306731 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Renpenning Syndrome |
|
Cachexia, Thin eyebrow, Growth delay, Alopecia, Severe short stature, Joint stiffness, Decreased ... |
ORPHA:3242 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Fine hair, Dry skin, Intrauterine growth retardation, Growth delay, Leukopenia, Short stature, Al... |
OMIM:613990 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Intrauterine growth retardation, Tracheobronchomalacia, Brittle hair, Joint hypermobility, Enamel... |
OMIM:619184 |
| Trichohepatoenteric Syndrome 1 |
|
Fine hair, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Intrauterine growth reta... |
OMIM:222470 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
| 19Q13.11 Microdeletion Syndrome |
|
Fine hair, Cachexia, Intrauterine growth retardation, Growth delay, Failure to thrive, Sparse lat... |
ORPHA:217346 |
| Craniolenticulosutural Dysplasia |
|
Short stature, Abnormality of skin pigmentation, Brittle hair, Coarse hair, Capillary hemangioma,... |
ORPHA:50814 |
| Granulomatous Slack Skin |
|
Cutis laxa, Hodgkin lymphoma, Erythema, Lymphoma, Redundant skin |
ORPHA:33111 |
| Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Pili torti, Reduced terminal:vellus ratio, Sparse hair |
OMIM:601553 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Orthostatic Hypotensive Disorder, Streeten Type |
|
Bruising susceptibility, Facial erythema |
OMIM:143850 |
| 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-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Oculodentodigital Dysplasia |
|
Fine hair, Hyperostosis, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology... |
ORPHA:2710 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Nuclear cataract, Trichiasis, Absent eyebrow, Nail dysplasia, Trichodysplasia |
OMIM:601701 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dystrophy, Alopecia, Parakeratosis, Nail dysplasia, Flexion contracture, Sparse hair, Palmop... |
OMIM:242300 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... |
OMIM:607624 |
| Leopard Syndrome 3 |
|
Epidermal hyperkeratosis, Growth delay, Short stature, Webbed neck, Curly hair, Multiple lentigin... |
OMIM:613707 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Short stature, Dystrophic toenail, Sparse and thin eyebrow, Al... |
ORPHA:1882 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Alopecia totalis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratos... |
OMIM:300918 |
| Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Short stature, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity |
OMIM:264010 |
| Christianson Syndrome |
|
Cachexia, Arthrogryposis multiplex congenita, Stereotypy, Thick eyebrow, Truncal ataxia, Gait ata... |
ORPHA:85278 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Nail dystrophy, Gastrointestinal carcinoma, Alopecia, Anemia, Nail dysplasia, Hamartoma... |
OMIM:175500 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract |
OMIM:618220 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Joint hypermobility, Fragile nails, Fine hair |
ORPHA:500166 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... |
ORPHA:248 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Osteoporosis, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis |
OMIM:618234 |
| Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Cachexia, Neoplasm of the lung, Neoplasm of the central nervous system, Weight ... |
ORPHA:83469 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Fine hair, Microphthalmia, Sclerocornea, Corneal dystrophy, Cataract,... |
ORPHA:1806 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Osteoporosis, Delayed puberty, Osteopenia |
OMIM:615270 |
| Warburg Micro Syndrome 3 |
|
Developmental cataract, Shallow anterior chamber, Microphthalmia, Hypertrichosis, Low anterior ha... |
OMIM:614222 |
| Osteogenesis Imperfecta, Type Xiii |
|
Short stature, Kyphoscoliosis, Osteoporosis, Long eyelashes, Platyspondyly, Joint hypermobility, ... |
OMIM:614856 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Astrocytosis |
ORPHA:204 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Short stature, Hirsutism, Small for gestational age, Kyphosis |
ORPHA:85288 |
| Keratolytic Winter Erythema |
|
Erythema, Pustule |
ORPHA:50943 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Hypertrichosis, Cutis laxa, Microcytic anemia, Ichthyosis, Hyperkeratosis |
OMIM:612379 |
| Xeroderma Pigmentosum |
|
Short stature, Pterygium, Hyperkeratosis, Papilloma, Opacification of the corneal stroma, Neoplas... |
ORPHA:910 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation, Failure to thrive, Abnormal dental enamel morphology, Genera... |
ORPHA:3019 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Severe postnatal growth retardation, Alopecia, Generalized hypoplasia of... |
OMIM:203550 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Erythema, Abnormality of female external genitalia, Parakeratosis |
ORPHA:83453 |
