| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Pili Gemini |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... |
ORPHA:79492 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Tented Eyebrows |
|
Abnormal hair morphology |
OMIM:611426 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
| Striate Palmoplantar Keratoderma |
|
Abnormal hair morphology, Abnormality of the nail |
ORPHA:50942 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... |
OMIM:605389 |
| Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
| Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
| Witkop Syndrome |
|
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits |
OMIM:189500 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Hypotrichosis 7 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:604379 |
| Hypotrichosis 14 |
|
Sparse hair, Sparse body hair |
OMIM:618275 |
| Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
| Hypotrichosis 10 |
|
Sparse eyelashes, Sparse eyebrow, Sparse body hair |
OMIM:614238 |
| Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
| Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
| Hypotrichosis 3 |
|
Sparse scalp hair |
OMIM:613981 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
| Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Pili torti, Reduced terminal:vellus ratio, Sparse hair |
OMIM:601553 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Alopecia, Sparse hair |
OMIM:212835 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... |
ORPHA:2722 |
| Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
| Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
| Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
| Syringocystadenoma Papilliferum |
|
Sparse scalp hair |
ORPHA:840 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair |
OMIM:614931 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D... |
ORPHA:3361 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyelashes, Abnormality of hair te... |
ORPHA:2891 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Tooth Agenesis, Selective, 8 |
|
Dry skin, Sparse hair, Sparse eyebrow |
OMIM:617073 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
| Angioma Serpiginosum, X-Linked |
|
Fine hair, Nail dystrophy, Sparse hair |
OMIM:300652 |
| Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia, Facial erythema, Hyperkeratosis, Dry skin, Palm... |
OMIM:212360 |
| Oculotrichodysplasia |
|
Sparse eyelashes, Dry skin, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... |
OMIM:257960 |
| Uncombable Hair Syndrome 3 |
|
Curly hair, Pili canaliculi, Uncombable hair |
OMIM:617252 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... |
ORPHA:1808 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair |
OMIM:617294 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
| Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Dry skin, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Spa... |
OMIM:190360 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234030 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Alopecia, Woolly scalp hair, Woolly hair |
OMIM:601217 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
| Hypertrichosis Lanuginosa Congenita |
|
Double eyebrow, Congenital, generalized hypertrichosis |
OMIM:145700 |
| Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
| Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... |
OMIM:616099 |
| Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
| Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
| Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
| Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Sparse hair |
OMIM:272980 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair |
OMIM:194300 |
| Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... |
ORPHA:573 |
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
Absent toenail, Sparse scalp hair, Dystrophic fingernails |
OMIM:614927 |
| 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 |
| Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
| Dermoodontodysplasia |
|
Dry skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
| Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate |
|
Sparse hair |
OMIM:129810 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
| Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:202 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Generalized hyperkeratosis,... |
ORPHA:2269 |
| Trichodental Dysplasia |
|
Fine hair, Brittle hair, Sparse hair, Slow-growing hair |
OMIM:601453 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, Nail pits |
ORPHA:169095 |
| Hypotrichosis 6 |
|
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:607903 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Dry skin, Abnormal fi... |
ORPHA:248 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... |
ORPHA:1818 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair |
ORPHA:1008 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Hairy Elbows |
|
Elbow hypertrichosis |
OMIM:139600 |
| Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair |
OMIM:164680 |
| Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
| Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Weight loss, Alopecia, Erythema, Ge... |
ORPHA:317 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Fine hair, Sparse eyelashes, Dry skin, Nail dysplasia, Slow-growing hair, Sparse and thin eyebrow... |
OMIM:129490 |
| Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
| Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Parc Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes |
OMIM:600331 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Sparse hair |
ORPHA:1174 |
| Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Gilbert Syndrome |
|
Dehydration |
OMIM:143500 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Nail dystrophy, Alopecia, Sparse hair |
OMIM:616353 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fine hair, Fragile nails |
ORPHA:500166 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Fine hair, Ungual fibroma, Abnormal toenail morphology, Sparse or absent eyelashes, Abnormal fing... |
ORPHA:1433 |
| Pili Torti-Onychodysplasia Syndrome |
|
Brittle hair, Palmoplantar keratoderma, Absent eyebrow, Absent eyelashes, Alopecia, Nail dystroph... |
ORPHA:2890 |
| Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
| Schopf-Schulz-Passarge Syndrome |
|
Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Narrow nail, Sparse hair,... |
OMIM:224750 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Widow's peak, Sparse hair, Thick eyebrow |
OMIM:606242 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Epidermal hyperkeratosis, Brittle hair, Palmoplantar keratoderma, Alopecia, Sparse eyebrow, Palmo... |
OMIM:104100 |
| Dwarfism, Familial, With Muscle Spasms |
|
Fine hair, Sparse scalp hair, Brittle scalp hair |
OMIM:600771 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
| Moynahan Syndrome |
|
Cachexia, Alopecia, Sparse hair, Hyperkeratosis |
ORPHA:2574 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... |
ORPHA:113 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
| Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia |
|
Hirsutism, Hypertrichosis, Congenital, generalized hypertrichosis |
OMIM:135400 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Slow-growing hair, Dry skin, Sparse eyelashes, Sparse body hair |
OMIM:618535 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Dermoodontodysplasia |
|
Fingernail dysplasia, Dry skin, Sparse scalp hair, Trichodysplasia, Sparse body hair, Toenail dys... |
ORPHA:1660 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... |
OMIM:613573 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Absent lower eyelashes, Distichiasis, Low anterior hairline, Sparse hair |
OMIM:227260 |
| Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Pili Torti, Early-Onset |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:261900 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Fine hair, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic fingernail, Hypoplas... |
ORPHA:2228 |
| Hawkinsinuria |
|
Fine hair, Sparse hair |
ORPHA:2118 |
| Focal Facial Dermal Dysplasia Type I |
|
Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair |
ORPHA:79133 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 42 |
|
Developmental cataract |
OMIM:115900 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Lumbar hypertrichosis, Sacral hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Follicular hyperkeratosis, Leukonychia, Spar... |
OMIM:613102 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Dry skin, Palmoplantar scaling skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperk... |
ORPHA:530838 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Loose Anagen Syndrome |
|
Abnormal hair morphology, Abnormal hair whorl |
ORPHA:168 |
| Classic Mycosis Fungoides |
|
Erythema, Alopecia, Abnormality of the nail, Hyperkeratosis, Dry skin, Skin ulcer |
ORPHA:2584 |
| Insulin-Resistance Syndrome Type A |
|
Generalized hirsutism, Hyperkeratosis |
ORPHA:2297 |
| Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Nail dystrophy, Nail dysplasia, Sparse hair, Supernumerary nipple |
OMIM:275450 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Dystrophic fingernails, Palmoplantar keratoderma, Scarring alopecia of scalp, F... |
OMIM:308800 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
| Huriez Syndrome |
|
Small nail, Palmoplantar keratoderma, Lack of skin elasticity, Abnormality of the nail, Dry skin |
ORPHA:384 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair |
ORPHA:2251 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Thin nail, Nail dystrophy, Absent eyebrow, Absent eyelashes, Sparse hair |
OMIM:618625 |
| Cardiofaciocutaneous Syndrome 2 |
|
Fine hair, Curly hair, Sparse hair, Absent eyebrow |
OMIM:615278 |
| Oliver-Mcfarlane Syndrome |
|
Long eyebrows, Sparse hair, Long eyelashes, Alopecia |
OMIM:275400 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Onycholysis, Abnormality of hair texture |
OMIM:270300 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, Nail pits |
OMIM:601705 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Sparse eyelashes, Alopecia, Parakeratosis, Orthokeratosis, Thick hair, Dry skin, Sparse hair |
OMIM:607626 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Anonychia With Flexural Pigmentation |
|
Alopecia of scalp, Abnormal hair morphology, Follicular hyperkeratosis, Hyperkeratosis, Anonychia |
ORPHA:69125 |
| Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Brittle hair, Coarse hair |
OMIM:616390 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Sparse ... |
ORPHA:1882 |
| Anonychia With Flexural Pigmentation |
|
Dry skin, Anonychia |
OMIM:106750 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Hypertrichosis |
OMIM:617524 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Sparse eyelashes, Sparse hair, Sparse eyebrow, Hypoplastic toenails |
OMIM:616901 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Dehydration |
OMIM:143860 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse axillary hair, Sparse pubic hair |
OMIM:146110 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:602400 |
| Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Edema, Pustule, Dehydration |
OMIM:616069 |
| Odontoonychodermal Dysplasia |
|
Fine hair, Anonychia, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Ery... |
OMIM:257980 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Abnormal fingernail morphology, Absent eyebrow, Absent eyelashes, Abnormal toenail morphology, Na... |
ORPHA:1809 |
| Alopecia Antibody Deficiency |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormal eyelash morphology |
ORPHA:1006 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Hypertrichosis |
OMIM:618244 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Diarrhea 2, With Microvillus Atrophy |
|
Dehydration |
OMIM:251850 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Sparse lateral eyebrow, Follicular hyperkeratosis, Facial erythema, Dry skin |
ORPHA:3406 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
| Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow |
OMIM:607655 |
| Pilodental Dysplasia With Refractive Errors |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Abnormality of the nail |
OMIM:262020 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Sparse hair, Uncombable hair |
ORPHA:1264 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Fine hair, Sparse scalp hair, Brittle hair, Pili torti |
ORPHA:1573 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anonychia, Nail dystrophy, Scarring alopecia of scalp, Sparse body hair |
ORPHA:79402 |
| Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
| Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
| Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... |
OMIM:129500 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp... |
OMIM:225060 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Dry skin, Small for gestational age, Brittle hair, Slow-growing hair |
OMIM:616943 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis |
ORPHA:735 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
| Acquired Ichthyosis |
|
Dry skin, Palmoplantar keratoderma, Erythema, Hyperkeratosis |
ORPHA:454 |
| Schöpf-Schulz-Passarge Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia |
ORPHA:50944 |
| Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
| Proliferating Trichilemmal Cyst |
|
Sparse scalp hair |
ORPHA:492 |
| Pseudoprogeria Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair |
ORPHA:2985 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Sparse hair, Sparse body hair |
ORPHA:1810 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Sparse hair, Pili canaliculi |
OMIM:614602 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin, Sparse scalp hair, Fragile nails |
OMIM:617364 |
| Pseudopelade Of Brocq |
|
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... |
ORPHA:129 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Sparse hair, Dystrophic fingernails |
OMIM:604536 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
| Bazex Syndrome |
|
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma |
OMIM:301845 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Alopecia universalis, Sparse hair |
OMIM:614594 |
| Amaurosis-Hypertrichosis Syndrome |
|
Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Synophrys |
ORPHA:1021 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Fine hair, Dry skin, Onycholysis, Hypoplastic toenails, Hyperkeratosis, Abnormal fingernail morph... |
ORPHA:1028 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Absent nipple, Sparse hair |
OMIM:129510 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
| Olmsted Syndrome 2 |
|
Palmoplantar keratoderma, Parakeratosis, Woolly hair, Perioral hyperkeratosis, Hyperkeratosis, Al... |
OMIM:619208 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Familial Melanoma |
|
Dry skin, Abnormal hair morphology |
ORPHA:618 |
| Pachyonychia Congenita 4 |
|
Nail dystrophy, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615728 |
| Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair |
ORPHA:181 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| Lamellar Ichthyosis |
|
Lack of skin elasticity, Abnormality of the nail, Hyperkeratosis, Dry skin, Aplasia/Hypoplasia of... |
ORPHA:313 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Dry skin, Absent nipple, Sparse hair, Absent hair |
OMIM:614940 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Pachyonychia Congenita 2 |
|
Dry hair, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail dysplasia, Spar... |
OMIM:167210 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Coarse hair, Sparse hair |
ORPHA:1883 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin |
OMIM:617920 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:616395 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
| Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
| Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Alopecia of scalp, Premature graying of hair, Dry skin, Low posterior hairline, Abnormal hair qua... |
ORPHA:2617 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Sparse eyelashes, Absent hair, Ridged nail, Nail dystrophy, Palmoplantar keratoderma, Sparse eyeb... |
ORPHA:1010 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair |
OMIM:613576 |
| Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Coffin-Siris Syndrome 3 |
|
Hypertrichosis, Hirsutism, Long eyelashes, Thick eyebrow, Sparse scalp hair, Sparse hair |
OMIM:614608 |
| Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
| Rosselli-Gulienetti Syndrome |
|
Progressive hypotrichosis, Sparse and thin eyebrow, Sparse eyelashes, Nail dysplasia |
OMIM:225000 |
| Hypotrichosis Simplex Of The Scalp |
|
Fine hair, Sparse scalp hair, Alopecia of scalp, Slow-growing scalp hair |
ORPHA:90368 |
| Complex Regional Pain Syndrome |
|
Dry skin, Abnormality of hair growth, Slow-growing nails, Erythema |
ORPHA:83452 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplasia |
OMIM:607823 |
| Tooth Agenesis, Selective, 4 |
|
Dry skin, Sparse hair, Sparse eyebrow, Short eyelashes |
OMIM:150400 |
| Rhizomelic Chondrodysplasia Punctata |
|
Dry skin, Alopecia, Sparse body hair |
ORPHA:177 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Low posterior hairline, Absent facial hair, Sparse facial hair |
ORPHA:2183 |
| Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair |
OMIM:610756 |
| Filippi Syndrome |
|
Frontal hirsutism, Sparse hair, Hypertrichosis |
OMIM:272440 |
| Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Alopecia |
OMIM:617763 |
| Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Coarse hair |
OMIM:248010 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair |
ORPHA:2850 |
| Recessive X-Linked Ichthyosis |
|
Dry skin, Hyperkeratosis |
ORPHA:461 |
| Cataract 21, Multiple Types |
|
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma |
OMIM:610202 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
| White Sponge Nevus 2 |
|
Edema, Hyperparakeratosis |
OMIM:615785 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Hirsutism, Low anterior hairline, Long eyelashes, Thick eyebrow, Sparse hair |
OMIM:616819 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Sparse scalp hair |
ORPHA:1003 |
| Ichthyosis Vulgaris |
|
Dry skin |
OMIM:146700 |
| Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
| Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Sparse eyelashes, Small nail, Brittle hair, Trichorrhexis nodosa, Abnormality of hair texture, Na... |
OMIM:234050 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Nail dystrophy, Alopecia, Sparse hair |
OMIM:242300 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Leopard Syndrome 3 |
|
Epidermal hyperkeratosis, Curly hair, Hyperkeratosis, Dry skin, Low posterior hairline |
OMIM:613707 |
| Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands |
|
Dry skin, Palmoplantar hyperkeratosis, Aplasia of the sweat glands |
OMIM:206600 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Hirsutism, Synophrys, Nail dystrophy, Dry skin, Low posterior hairline, Increased body weight, Ab... |
OMIM:300860 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse eyelashes, Sparse and thin eyebrow, Scarring alopecia of scalp, Sparse scalp hair, Sparse ... |
ORPHA:59303 |
| Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
| Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
| Phenylketonuria |
|
Dry skin, Fair hair |
OMIM:261600 |
| Blepharocheilodontic Syndrome 1 |
|
High anterior hairline, Small nail, Distichiasis, Sparse hair |
OMIM:119580 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyelashes, Hypoplastic nipples, Sparse lateral eyebrow, Sparse scalp hair, Periorbital wri... |
OMIM:614941 |
| Cerebellofaciodental Syndrome |
|
Fine hair, Sparse and thin eyebrow, Sparse hair |
OMIM:616202 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Highly arched eyebrow, Sparse lateral eyebrow, Abnormal hair pattern, Sparse lower eyelashes, Dis... |
ORPHA:1807 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Nail dystrophy, Alopecia |
OMIM:618373 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse axillary hair, Sparse body hair, Short eyelashes |
OMIM:608615 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Woolly hair |
OMIM:605676 |
| Trichothiodystrophy 1, Photosensitive |
|
Fine hair, Tiger tail banding, Small nail, Small for gestational age, Brittle hair, Nail dystroph... |
OMIM:601675 |
| Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
| Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Dry skin, Hypertrichosis, Small for gestational age, Onychauxis |
OMIM:262190 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
| Hypohidrotic Ectodermal Dysplasia |
|
Dry skin, Failure to thrive, Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis ... |
ORPHA:238468 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
| Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
| Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... |
OMIM:613736 |
| Rodrigues Blindness |
|
Fine hair, Sparse hair |
OMIM:268320 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
| Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Sparse hair |
ORPHA:1839 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis |
OMIM:617571 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Fine hair, Sparse scalp hair |
ORPHA:2324 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis |
OMIM:618531 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
| Onychotrichodysplasia And Neutropenia |
|
Curly eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Curly hair, Hypoplastic fingernail, Con... |
OMIM:258360 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
| Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Pili canaliculi, Uncombable hair |
OMIM:191482 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... |
OMIM:601375 |
| Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Scaling skin, Failure to thrive, Hyperkeratosis |
OMIM:609180 |
| Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Palmoplantar keratoderma, Parakeratosis, Orthokeratosis, Hyperkeratosis, Scaling skin |
OMIM:612281 |
| Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
| Prolidase Deficiency |
|
Hirsutism, Low anterior hairline, Palmoplantar keratoderma, Erythema, White forelock, Generalized... |
ORPHA:742 |
| Harlequin Ichthyosis |
|
Dehydration, Erythroderma, Hyperkeratosis |
ORPHA:457 |
| Copper Deficiency, Familial Benign |
|
Early balding, Curly hair |
OMIM:121270 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology |
ORPHA:2221 |
| Growth Hormone Insensitivity Syndrome |
|
Fine hair, Abnormality of the nail |
ORPHA:181393 |
| Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
| Sjögren-Larsson Syndrome |
|
Dry skin, Erythema, Hyperkeratosis |
ORPHA:816 |
| Progeroid Syndrome, Petty Type |
|
Long eyelashes in irregular rows, Abnormal hair morphology, Brittle hair, Thick eyebrow, Generali... |
ORPHA:2963 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Nail dystrophy, Palmoplantar keratoderma, Alopecia, Parakeratosis, Orthokeratosis, Honeycomb palm... |
ORPHA:79395 |
| 19Q13.11 Microdeletion Syndrome |
|
Fine hair, Cachexia, Failure to thrive, Sparse lateral eyebrow, Nail dysplasia, Sparse or absent ... |
ORPHA:217346 |
| Adult Syndrome |
|
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Abnormality of... |
ORPHA:978 |
| Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
| Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Dry skin, Decreased body weight |
OMIM:612947 |
| Sézary Syndrome |
|
Dry skin, Nail dystrophy, Palmoplantar keratoderma, Alopecia |
ORPHA:3162 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Fine hair, Sparse eyelashes, Hypoplastic nipples, Distichiasis, Absent pubic hair, Sparse hair, A... |
OMIM:211370 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Alopecia |
ORPHA:50812 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
| Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... |
ORPHA:251393 |
| Acrodermatitis Enteropathica |
|
Dry skin, Ridged nail, Failure to thrive, Weight loss, Alopecia, Erythema, Abnormal eyebrow morph... |
ORPHA:37 |
| Leopard Syndrome 2 |
|
Dry skin, Curly hair |
OMIM:611554 |
| Anauxetic Dysplasia 2 |
|
Nail dysplasia, Small nail, Sparse hair |
OMIM:617396 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
| Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
| Ifap Syndrome 2 |
|
Nail dystrophy, Sparse hair, Atrichia |
OMIM:619016 |
| Congenital Lethal Erythroderma |
|
Dry skin, Failure to thrive |
ORPHA:1954 |
| Adiposis Dolorosa |
|
Dry skin, Sparse axillary hair, Obesity, Sparse pubic hair |
ORPHA:36397 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Dystrophic toenail, Onycholysis, Nail dystrophy, Decreased number of sw... |
ORPHA:69087 |
| Familial Cold Urticaria |
|
Pruritus, Dehydration |
ORPHA:47045 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Slow-growing hair, Brittle hair, Sparse hair, Tiger tail banding |
OMIM:300953 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
| Bathing Suit Ichthyosis |
|
Nail dystrophy, Alopecia, Parakeratosis, Scaling skin, Sparse hair, Palmoplantar hyperkeratosis |
ORPHA:100976 |
| Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
| Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
